Incidental Mutation 'PIT1430001:Erbin'
ID 499912
Institutional Source Beutler Lab
Gene Symbol Erbin
Ensembl Gene ENSMUSG00000021709
Gene Name Erbb2 interacting protein
Synonyms 1700028E05Rik, Erbb2ip, Erbin
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT1430001 (G1)
Quality Score 100
Status Validated
Chromosome 13
Chromosomal Location 103955295-104057022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103996017 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 228 (S228R)
Ref Sequence ENSEMBL: ENSMUSP00000140536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022222] [ENSMUST00000053927] [ENSMUST00000091269] [ENSMUST00000169083] [ENSMUST00000188997] [ENSMUST00000191275]
AlphaFold Q80TH2
Predicted Effect probably benign
Transcript: ENSMUST00000022222
AA Change: S228R

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000022222
Gene: ENSMUSG00000021709
AA Change: S228R

DomainStartEndE-ValueType
LRR 48 68 3.65e0 SMART
LRR 91 114 4.97e0 SMART
LRR 137 159 4.21e1 SMART
LRR 160 182 8.97e0 SMART
LRR 183 205 1.41e0 SMART
LRR 206 228 3.87e1 SMART
LRR 229 252 1.31e0 SMART
LRR 253 274 3.56e2 SMART
LRR 275 298 1.19e1 SMART
LRR 321 344 2.76e1 SMART
LRR 345 366 3.27e2 SMART
LRR 367 389 1.06e1 SMART
low complexity region 534 544 N/A INTRINSIC
low complexity region 593 603 N/A INTRINSIC
low complexity region 625 642 N/A INTRINSIC
low complexity region 647 659 N/A INTRINSIC
PDZ 1294 1374 3.6e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000053927
AA Change: S228R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057956
Gene: ENSMUSG00000021709
AA Change: S228R

DomainStartEndE-ValueType
LRR 48 68 3.65e0 SMART
LRR 91 114 4.97e0 SMART
LRR 137 159 4.21e1 SMART
LRR 160 182 8.97e0 SMART
LRR 183 205 1.41e0 SMART
LRR 206 228 3.87e1 SMART
LRR 229 252 1.31e0 SMART
LRR 253 274 3.56e2 SMART
LRR 275 298 1.19e1 SMART
LRR 321 344 2.76e1 SMART
LRR 345 366 3.27e2 SMART
LRR 367 389 1.06e1 SMART
low complexity region 534 544 N/A INTRINSIC
low complexity region 593 603 N/A INTRINSIC
low complexity region 625 642 N/A INTRINSIC
low complexity region 647 659 N/A INTRINSIC
PDZ 1368 1448 3.6e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000091269
AA Change: S228R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000088813
Gene: ENSMUSG00000021709
AA Change: S228R

DomainStartEndE-ValueType
LRR 48 68 3.65e0 SMART
LRR 91 114 4.97e0 SMART
LRR 137 159 4.21e1 SMART
LRR 160 182 8.97e0 SMART
LRR 183 205 1.41e0 SMART
LRR 206 228 3.87e1 SMART
LRR 229 252 1.31e0 SMART
LRR 253 274 3.56e2 SMART
LRR 275 298 1.19e1 SMART
LRR 321 344 2.76e1 SMART
LRR 345 366 3.27e2 SMART
LRR 367 389 1.06e1 SMART
low complexity region 534 544 N/A INTRINSIC
low complexity region 593 603 N/A INTRINSIC
low complexity region 625 642 N/A INTRINSIC
low complexity region 647 659 N/A INTRINSIC
PDZ 1320 1400 3.6e-16 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000169083
AA Change: S228R

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000127607
Gene: ENSMUSG00000021709
AA Change: S228R

DomainStartEndE-ValueType
LRR 48 68 3.65e0 SMART
LRR 91 114 4.97e0 SMART
LRR 137 159 4.21e1 SMART
LRR 160 182 8.97e0 SMART
LRR 183 205 1.41e0 SMART
LRR 206 228 3.87e1 SMART
LRR 229 252 1.31e0 SMART
LRR 253 274 3.56e2 SMART
LRR 275 298 1.19e1 SMART
LRR 321 344 2.76e1 SMART
LRR 345 366 3.27e2 SMART
LRR 367 389 1.06e1 SMART
low complexity region 534 544 N/A INTRINSIC
low complexity region 593 603 N/A INTRINSIC
low complexity region 625 642 N/A INTRINSIC
low complexity region 647 659 N/A INTRINSIC
PDZ 1329 1409 3.6e-16 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000188997
AA Change: S228R

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140931
Gene: ENSMUSG00000021709
AA Change: S228R

DomainStartEndE-ValueType
LRR 48 68 3.65e0 SMART
LRR 91 114 4.97e0 SMART
LRR 137 159 4.21e1 SMART
LRR 160 182 8.97e0 SMART
LRR 183 205 1.41e0 SMART
LRR 206 228 3.87e1 SMART
LRR 229 252 1.31e0 SMART
LRR 253 274 3.56e2 SMART
LRR 275 298 1.19e1 SMART
LRR 321 344 2.76e1 SMART
LRR 345 366 3.27e2 SMART
LRR 367 389 1.06e1 SMART
low complexity region 534 544 N/A INTRINSIC
low complexity region 593 603 N/A INTRINSIC
low complexity region 625 642 N/A INTRINSIC
low complexity region 647 659 N/A INTRINSIC
PDZ 1212 1292 3.6e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189323
Predicted Effect probably damaging
Transcript: ENSMUST00000191275
AA Change: S228R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140536
Gene: ENSMUSG00000021709
AA Change: S228R

DomainStartEndE-ValueType
LRR 48 68 3.65e0 SMART
LRR 91 114 4.97e0 SMART
LRR 137 159 4.21e1 SMART
LRR 160 182 8.97e0 SMART
LRR 183 205 1.41e0 SMART
LRR 206 228 3.87e1 SMART
LRR 229 252 1.31e0 SMART
LRR 253 274 3.56e2 SMART
LRR 275 298 1.19e1 SMART
LRR 321 344 2.76e1 SMART
LRR 345 366 3.27e2 SMART
LRR 367 389 1.06e1 SMART
low complexity region 534 544 N/A INTRINSIC
low complexity region 593 603 N/A INTRINSIC
low complexity region 625 642 N/A INTRINSIC
low complexity region 647 659 N/A INTRINSIC
PDZ 1368 1448 3.6e-16 SMART
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (136/137)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the leucine-rich repeat and PDZ domain (LAP) family. The encoded protein contains 17 leucine-rich repeats and one PDZ domain. It binds to the unphosphorylated form of the ERBB2 protein and regulates ERBB2 function and localization. It has also been shown to affect the Ras signaling pathway by disrupting Ras-Raf interaction. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a null or gene trapped allele exhibit impaired myelination, reduced nerve conduction, and hyporesponsiveness to tactile stimuli. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 139 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A T 12: 71,207,160 (GRCm39) I524F possibly damaging Het
4930511M06Rik T C 18: 57,517,241 (GRCm39) probably benign Het
9330159F19Rik T A 10: 29,100,711 (GRCm39) N361K probably damaging Het
Adgra2 A G 8: 27,604,216 (GRCm39) M469V possibly damaging Het
Akap9 A G 5: 4,079,849 (GRCm39) D1867G probably damaging Het
Ankrd17 T C 5: 90,400,832 (GRCm39) T1687A possibly damaging Het
Ap1m2 G A 9: 21,209,548 (GRCm39) P376L probably damaging Het
Bicc1 A G 10: 70,793,511 (GRCm39) S196P possibly damaging Het
Cacnb2 C T 2: 14,976,412 (GRCm39) R228* probably null Het
Ccdc43 A G 11: 102,582,976 (GRCm39) S83P probably damaging Het
Cdc42bpg T A 19: 6,372,582 (GRCm39) probably null Het
Cdh16 C A 8: 105,344,271 (GRCm39) M89I probably benign Het
Cecr2 A C 6: 120,735,440 (GRCm39) H892P probably benign Het
Chd5 T A 4: 152,455,094 (GRCm39) S859T probably damaging Het
Chrd G A 16: 20,557,748 (GRCm39) probably null Het
Chrna2 T A 14: 66,387,186 (GRCm39) L444Q probably benign Het
Ckap4 A G 10: 84,363,630 (GRCm39) S478P probably damaging Het
Cldn4 A T 5: 134,975,514 (GRCm39) M29K possibly damaging Het
Clpb T C 7: 101,435,926 (GRCm39) V615A possibly damaging Het
Cyb5r4 G A 9: 86,920,791 (GRCm39) G142E probably benign Het
Cyp1a1 A G 9: 57,608,194 (GRCm39) Y274C probably benign Het
D2hgdh T C 1: 93,754,001 (GRCm39) probably benign Het
Dgkh T A 14: 78,818,953 (GRCm39) E919V probably damaging Het
Dnah1 A G 14: 30,984,537 (GRCm39) Y3916H probably damaging Het
Dpp10 A G 1: 123,268,911 (GRCm39) probably benign Het
Dync2i2 T C 2: 29,922,147 (GRCm39) Y438C probably damaging Het
Egfr A G 11: 16,860,214 (GRCm39) T1043A probably benign Het
Elp5 T G 11: 69,857,935 (GRCm39) probably null Het
Emilin3 A T 2: 160,750,402 (GRCm39) M449K possibly damaging Het
Epb41l4a T G 18: 33,930,400 (GRCm39) T686P probably damaging Het
Eppk1 A G 15: 76,105,236 (GRCm38) C2482R probably benign Het
Eps8l3 T C 3: 107,792,183 (GRCm39) L370P probably damaging Het
Fam149a C T 8: 45,804,743 (GRCm39) E280K probably benign Het
Fam78b T C 1: 166,829,313 (GRCm39) I60T probably benign Het
Fank1 A T 7: 133,478,529 (GRCm39) R197* probably null Het
Fbxo21 C T 5: 118,115,931 (GRCm39) S83F possibly damaging Het
Fbxo4 G C 15: 4,008,782 (GRCm39) T42R probably benign Het
Fhad1 C G 4: 141,637,060 (GRCm39) E1135D probably damaging Het
Fmo1 T A 1: 162,657,622 (GRCm39) E506D probably benign Het
Glipr1l2 A T 10: 111,942,745 (GRCm39) T231S probably benign Het
Gm11651 C G 11: 105,863,917 (GRCm39) probably benign Het
Gm16043 A G 6: 8,426,969 (GRCm39) probably null Het
Gm572 T G 4: 148,755,850 (GRCm39) W389G unknown Het
Gpc6 G A 14: 118,188,594 (GRCm39) W409* probably null Het
Gpr155 T C 2: 73,200,482 (GRCm39) T342A probably benign Het
Hcn4 A C 9: 58,766,833 (GRCm39) H798P unknown Het
Herc2 T C 7: 55,876,702 (GRCm39) S4513P probably damaging Het
Hmcn1 G A 1: 150,684,488 (GRCm39) R361C probably benign Het
Hoxa4 G T 6: 52,168,199 (GRCm39) P157Q possibly damaging Het
Ift122 A C 6: 115,902,705 (GRCm39) probably benign Het
Igfbpl1 G A 4: 45,826,756 (GRCm39) S13L unknown Het
Igsf10 T C 3: 59,235,579 (GRCm39) D1534G probably benign Het
Il1rap T G 16: 26,529,343 (GRCm39) L339V possibly damaging Het
Irf2bpl C T 12: 86,930,229 (GRCm39) R148H possibly damaging Het
Ivns1abp A T 1: 151,237,356 (GRCm39) R58W probably damaging Het
Kcnq5 C T 1: 21,605,405 (GRCm39) V167M probably damaging Het
Lrrcc1 G A 3: 14,610,656 (GRCm39) C337Y probably damaging Het
Lrriq3 A G 3: 154,804,507 (GRCm39) I56V probably benign Het
Masp1 C A 16: 23,332,694 (GRCm39) S47I probably damaging Het
Mcm7 A T 5: 138,165,708 (GRCm39) probably benign Het
Mdm2 G T 10: 117,530,840 (GRCm39) S210R probably damaging Het
Mical1 A G 10: 41,359,492 (GRCm39) R500G possibly damaging Het
Mtarc1 T G 1: 184,539,246 (GRCm39) T37P probably benign Het
Myc A C 15: 61,859,542 (GRCm39) T73P probably damaging Het
Myh15 G A 16: 49,017,254 (GRCm39) probably null Het
Myh4 A G 11: 67,149,658 (GRCm39) M1768V probably benign Het
Nap1l1 T C 10: 111,322,597 (GRCm39) Y66H probably damaging Het
Ncoa1 C T 12: 4,373,005 (GRCm39) R132K probably benign Het
Nfatc3 C T 8: 106,786,605 (GRCm39) S28F possibly damaging Het
Nhlrc3 T A 3: 53,361,050 (GRCm39) K235M probably damaging Het
Nrk G A X: 137,879,463 (GRCm39) E757K probably damaging Het
Obsl1 G A 1: 75,482,811 (GRCm39) P20S probably damaging Het
P2rx7 C T 5: 122,819,279 (GRCm39) A567V probably damaging Het
Pate9 A T 9: 36,446,295 (GRCm39) L39* probably null Het
Pcdhb15 G A 18: 37,608,724 (GRCm39) R652H probably benign Het
Pcdhga4 T C 18: 37,819,267 (GRCm39) V272A probably benign Het
Pcdhgb1 T G 18: 37,814,472 (GRCm39) V321G probably damaging Het
Pde2a C G 7: 101,100,684 (GRCm39) probably benign Het
Pdhb C T 14: 8,170,425 (GRCm38) E109K probably damaging Het
Pkd1 C A 17: 24,788,485 (GRCm39) L748M probably damaging Het
Pkd2 A T 5: 104,607,654 (GRCm39) E51V probably damaging Het
Pkdrej A G 15: 85,705,493 (GRCm39) Y148H probably damaging Het
Polr3gl C G 3: 96,488,228 (GRCm39) probably benign Het
Ppfia1 A T 7: 144,052,073 (GRCm39) L882Q probably damaging Het
Ppp4r3b G T 11: 29,159,434 (GRCm39) R596L probably benign Het
Ppp6r3 G A 19: 3,521,059 (GRCm39) Q85* probably null Het
Prss8 A G 7: 127,521,424 (GRCm39) probably benign Het
Qng1 T A 13: 58,532,827 (GRCm39) K48* probably null Het
Rab22a A G 2: 173,536,963 (GRCm39) I87V probably benign Het
Rev1 A C 1: 38,095,337 (GRCm39) probably benign Het
Rnase13 A G 14: 52,159,987 (GRCm39) Y51H probably damaging Het
Rnf26 T C 9: 44,023,942 (GRCm39) H102R probably damaging Het
Rnf5 T C 17: 34,822,341 (GRCm39) E36G probably damaging Het
Rplp1 T G 9: 61,821,658 (GRCm39) D18A probably benign Het
Rrs1 C A 1: 9,616,150 (GRCm39) D134E probably damaging Het
Sec14l1 A G 11: 117,034,629 (GRCm39) Y166C probably damaging Het
Sec14l2 A T 11: 4,059,209 (GRCm39) Y153* probably null Het
Senp1 A G 15: 97,982,870 (GRCm39) L39P probably damaging Het
Senp2 T A 16: 21,832,864 (GRCm39) probably benign Het
Sh3bp1 G A 15: 78,798,224 (GRCm39) A19T probably benign Het
Sis G A 3: 72,830,162 (GRCm39) P1130S probably damaging Het
Slc16a12 C T 19: 34,654,759 (GRCm39) A95T possibly damaging Het
Slc22a4 A G 11: 53,918,783 (GRCm39) V7A probably benign Het
Slc35c2 C T 2: 165,119,452 (GRCm39) S296N probably benign Het
Slf1 A G 13: 77,198,169 (GRCm39) probably benign Het
Slitrk6 A T 14: 110,987,859 (GRCm39) V616E possibly damaging Het
Smarca2 T A 19: 26,626,493 (GRCm39) M439K probably benign Het
Snx29 G A 16: 11,221,488 (GRCm39) A305T probably benign Het
Socs5 C T 17: 87,441,044 (GRCm39) probably benign Het
Spata31d1a G T 13: 59,849,010 (GRCm39) H1039Q probably benign Het
Srgap1 G A 10: 121,732,658 (GRCm39) probably benign Het
Synj1 A T 16: 90,761,396 (GRCm39) I650N probably damaging Het
Tac4 A C 11: 95,158,190 (GRCm39) probably benign Het
Tbck A C 3: 132,428,487 (GRCm39) T281P probably benign Het
Tbx22 T C X: 106,720,611 (GRCm39) L62P probably damaging Het
Terf2 G C 8: 107,822,934 (GRCm39) R70G probably damaging Het
Tfdp1 C T 8: 13,422,526 (GRCm39) P138S probably benign Het
Tigd2 T C 6: 59,188,233 (GRCm39) Y367H probably damaging Het
Tmprss15 A T 16: 78,821,640 (GRCm39) probably null Het
Tmprss6 C T 15: 78,324,827 (GRCm39) G741D probably damaging Het
Tnrc6b A C 15: 80,813,387 (GRCm39) T1715P probably damaging Het
Tpcn1 T C 5: 120,686,388 (GRCm39) probably benign Het
Trappc2l T C 8: 123,339,874 (GRCm39) S35P probably damaging Het
Trim63 T C 4: 134,048,484 (GRCm39) probably benign Het
Trim66 G T 7: 109,074,454 (GRCm39) D602E probably damaging Het
Trp53bp1 G A 2: 121,101,756 (GRCm39) P2S probably damaging Het
Tspan14 A G 14: 40,637,488 (GRCm39) L100P probably damaging Het
Tspan15 C T 10: 62,023,899 (GRCm39) E260K probably damaging Het
Ubxn10 T C 4: 138,448,199 (GRCm39) D159G probably benign Het
Unc5a T G 13: 55,151,709 (GRCm39) V713G probably damaging Het
Usp16 C T 16: 87,270,020 (GRCm39) A324V probably damaging Het
Uvssa G A 5: 33,559,914 (GRCm39) R422Q possibly damaging Het
Wipf1 A C 2: 73,267,946 (GRCm39) F151V probably damaging Het
Xpo1 A T 11: 23,226,437 (GRCm39) K104N possibly damaging Het
Ybx3 T C 6: 131,356,422 (GRCm39) T150A probably damaging Het
Yju2 C T 17: 56,271,479 (GRCm39) probably benign Het
Zap70 T A 1: 36,818,250 (GRCm39) S312R possibly damaging Het
Zfp534 T G 4: 147,759,880 (GRCm39) K263T probably benign Het
Zfp534 T G 4: 147,759,917 (GRCm39) N251H probably benign Het
Other mutations in Erbin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01092:Erbin APN 13 103,970,520 (GRCm39) missense probably damaging 1.00
IGL01404:Erbin APN 13 103,975,972 (GRCm39) missense probably damaging 1.00
IGL01455:Erbin APN 13 103,995,895 (GRCm39) missense probably damaging 1.00
IGL01871:Erbin APN 13 103,971,274 (GRCm39) missense probably damaging 0.98
IGL01930:Erbin APN 13 103,977,680 (GRCm39) missense probably damaging 1.00
IGL02112:Erbin APN 13 103,998,844 (GRCm39) missense probably benign 0.12
IGL02736:Erbin APN 13 103,975,903 (GRCm39) missense probably damaging 1.00
IGL03149:Erbin APN 13 103,977,671 (GRCm39) missense possibly damaging 0.82
IGL03169:Erbin APN 13 103,977,740 (GRCm39) missense possibly damaging 0.93
regard UTSW 13 103,981,429 (GRCm39) nonsense probably null
wishes UTSW 13 103,979,959 (GRCm39) splice site probably benign
IGL02802:Erbin UTSW 13 104,004,638 (GRCm39) missense probably damaging 1.00
R0329:Erbin UTSW 13 104,005,373 (GRCm39) missense probably damaging 1.00
R0330:Erbin UTSW 13 104,005,373 (GRCm39) missense probably damaging 1.00
R0492:Erbin UTSW 13 103,970,866 (GRCm39) missense probably damaging 0.98
R0508:Erbin UTSW 13 103,970,535 (GRCm39) missense probably damaging 1.00
R0589:Erbin UTSW 13 104,022,795 (GRCm39) missense probably damaging 1.00
R1103:Erbin UTSW 13 104,022,710 (GRCm39) missense probably benign 0.00
R1139:Erbin UTSW 13 104,020,761 (GRCm39) missense probably damaging 1.00
R1316:Erbin UTSW 13 103,977,742 (GRCm39) missense possibly damaging 0.94
R1675:Erbin UTSW 13 103,977,686 (GRCm39) missense probably damaging 1.00
R1698:Erbin UTSW 13 103,970,239 (GRCm39) missense possibly damaging 0.91
R1727:Erbin UTSW 13 103,964,476 (GRCm39) missense probably benign 0.01
R1745:Erbin UTSW 13 103,975,957 (GRCm39) missense probably damaging 1.00
R1746:Erbin UTSW 13 103,987,339 (GRCm39) missense probably damaging 1.00
R1764:Erbin UTSW 13 103,979,959 (GRCm39) splice site probably benign
R1828:Erbin UTSW 13 103,996,577 (GRCm39) critical splice donor site probably null
R1840:Erbin UTSW 13 103,971,455 (GRCm39) missense probably benign 0.01
R1987:Erbin UTSW 13 104,022,711 (GRCm39) missense probably benign 0.36
R1992:Erbin UTSW 13 103,970,221 (GRCm39) missense probably benign 0.33
R2013:Erbin UTSW 13 103,994,041 (GRCm39) missense probably damaging 1.00
R2025:Erbin UTSW 13 103,966,703 (GRCm39) missense probably benign 0.01
R2056:Erbin UTSW 13 103,966,824 (GRCm39) missense probably benign 0.27
R2171:Erbin UTSW 13 103,971,466 (GRCm39) missense probably benign 0.00
R2366:Erbin UTSW 13 103,981,417 (GRCm39) missense probably damaging 1.00
R2897:Erbin UTSW 13 104,022,705 (GRCm39) missense probably damaging 1.00
R3912:Erbin UTSW 13 104,022,846 (GRCm39) splice site probably benign
R3912:Erbin UTSW 13 103,998,795 (GRCm39) missense probably benign 0.35
R4073:Erbin UTSW 13 103,996,619 (GRCm39) missense probably damaging 1.00
R4458:Erbin UTSW 13 103,970,065 (GRCm39) missense probably damaging 1.00
R4465:Erbin UTSW 13 103,981,393 (GRCm39) missense probably benign 0.05
R4525:Erbin UTSW 13 103,993,600 (GRCm39) missense probably benign
R4780:Erbin UTSW 13 104,020,714 (GRCm39) missense probably damaging 1.00
R4877:Erbin UTSW 13 103,987,346 (GRCm39) missense probably damaging 0.99
R4879:Erbin UTSW 13 103,971,282 (GRCm39) missense probably benign 0.05
R5396:Erbin UTSW 13 103,993,917 (GRCm39) critical splice donor site probably null
R5898:Erbin UTSW 13 103,975,813 (GRCm39) critical splice donor site probably null
R5955:Erbin UTSW 13 103,966,700 (GRCm39) missense probably benign 0.40
R6073:Erbin UTSW 13 103,981,429 (GRCm39) nonsense probably null
R6107:Erbin UTSW 13 103,970,400 (GRCm39) missense probably benign 0.06
R6257:Erbin UTSW 13 103,998,796 (GRCm39) missense probably benign 0.35
R6294:Erbin UTSW 13 103,993,564 (GRCm39) missense probably benign 0.36
R6358:Erbin UTSW 13 103,982,073 (GRCm39) missense probably damaging 1.00
R6476:Erbin UTSW 13 103,977,755 (GRCm39) missense probably damaging 1.00
R6485:Erbin UTSW 13 104,004,621 (GRCm39) missense probably damaging 1.00
R6631:Erbin UTSW 13 103,961,400 (GRCm39) missense probably benign 0.02
R6735:Erbin UTSW 13 104,020,718 (GRCm39) missense probably damaging 1.00
R6736:Erbin UTSW 13 103,971,274 (GRCm39) missense possibly damaging 0.72
R6749:Erbin UTSW 13 103,970,885 (GRCm39) missense probably damaging 1.00
R7290:Erbin UTSW 13 103,998,834 (GRCm39) missense probably damaging 1.00
R7767:Erbin UTSW 13 103,995,907 (GRCm39) missense probably damaging 1.00
R8052:Erbin UTSW 13 103,970,864 (GRCm39) nonsense probably null
R8104:Erbin UTSW 13 103,971,485 (GRCm39) missense possibly damaging 0.89
R8140:Erbin UTSW 13 104,056,802 (GRCm39) splice site probably null
R8303:Erbin UTSW 13 103,966,694 (GRCm39) critical splice donor site probably null
R8392:Erbin UTSW 13 103,970,570 (GRCm39) missense probably damaging 1.00
R8811:Erbin UTSW 13 104,022,824 (GRCm39) missense probably damaging 1.00
R8924:Erbin UTSW 13 103,975,966 (GRCm39) nonsense probably null
R9267:Erbin UTSW 13 103,987,292 (GRCm39) missense probably damaging 1.00
R9794:Erbin UTSW 13 103,971,359 (GRCm39) missense probably benign
R9799:Erbin UTSW 13 103,971,384 (GRCm39) missense probably benign
Predicted Primers
Posted On 2017-11-21