Incidental Mutation 'R3912:Erbin'
ID 359680
Institutional Source Beutler Lab
Gene Symbol Erbin
Ensembl Gene ENSMUSG00000021709
Gene Name Erbb2 interacting protein
Synonyms 1700028E05Rik, Erbb2ip, Erbin
MMRRC Submission 040910-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3912 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 103955295-104057022 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 104022846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000022222
Gene: ENSMUSG00000021709

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 benign
Transcript: ENSMUST00000053927
SMART Domains Protein: ENSMUSP00000057956
Gene: ENSMUSG00000021709

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 benign
Transcript: ENSMUST00000091269
SMART Domains Protein: ENSMUSP00000088813
Gene: ENSMUSG00000021709

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 probably benign
Transcript: ENSMUST00000169083
SMART Domains Protein: ENSMUSP00000127607
Gene: ENSMUSG00000021709

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 probably benign
Transcript: ENSMUST00000188997
SMART Domains Protein: ENSMUSP00000140931
Gene: ENSMUSG00000021709

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 benign
Transcript: ENSMUST00000191275
SMART Domains Protein: ENSMUSP00000140536
Gene: ENSMUSG00000021709

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (56/56)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot1 A G 12: 84,063,806 (GRCm39) S305G probably damaging Het
Acot12 A G 13: 91,918,208 (GRCm39) D167G probably benign Het
Adgra1 T C 7: 139,425,630 (GRCm39) probably null Het
Adh7 T A 3: 137,927,541 (GRCm39) V29E probably damaging Het
Aopep G T 13: 63,304,520 (GRCm39) E402* probably null Het
Atp2c2 A G 8: 120,448,015 (GRCm39) K103E probably damaging Het
Camkk1 A G 11: 72,924,642 (GRCm39) D285G probably benign Het
Ccdc158 G C 5: 92,796,794 (GRCm39) T514S possibly damaging Het
Cdhr5 T A 7: 140,853,770 (GRCm39) D210V probably damaging Het
Cndp1 C T 18: 84,650,124 (GRCm39) D190N probably benign Het
Eepd1 C T 9: 25,394,600 (GRCm39) T288M probably damaging Het
Fnip2 A T 3: 79,386,812 (GRCm39) D971E possibly damaging Het
Gab2 A G 7: 96,948,280 (GRCm39) Y290C probably damaging Het
Gbp3 C T 3: 142,272,099 (GRCm39) probably benign Het
Gm14326 T C 2: 177,587,658 (GRCm39) K446R probably damaging Het
Herc2 T C 7: 55,748,185 (GRCm39) Y518H probably damaging Het
Id2 T A 12: 25,145,871 (GRCm39) K47* probably null Het
Ilf2 A G 3: 90,394,367 (GRCm39) N295S probably benign Het
Ilf3 C T 9: 21,309,422 (GRCm39) A526V possibly damaging Het
Ints10 T A 8: 69,266,272 (GRCm39) S478T probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lrrc7 G A 3: 157,997,589 (GRCm39) L158F probably damaging Het
Mroh9 C T 1: 162,893,638 (GRCm39) C179Y probably damaging Het
Mrps18b C T 17: 36,221,831 (GRCm39) V165I probably benign Het
Myrip A G 9: 120,261,682 (GRCm39) S432G probably benign Het
Nutm2 C T 13: 50,626,976 (GRCm39) A377V possibly damaging Het
Or2ag18 A T 7: 106,405,072 (GRCm39) V199D probably damaging Het
Pate4 C A 9: 35,523,140 (GRCm39) M1I probably null Het
Pax7 C A 4: 139,508,209 (GRCm39) W272L probably benign Het
Ppp1r12b C T 1: 134,815,056 (GRCm39) E320K probably damaging Het
Prg4 T C 1: 150,327,619 (GRCm39) Y278C probably damaging Het
Pvr T C 7: 19,643,217 (GRCm39) N339D probably benign Het
Rev3l A G 10: 39,696,552 (GRCm39) I521M probably damaging Het
Ryr2 A G 13: 11,787,313 (GRCm39) I1020T probably damaging Het
Scn4a T A 11: 106,211,542 (GRCm39) I1492F probably damaging Het
Sec16a C T 2: 26,304,399 (GRCm39) G2304D probably damaging Het
Shisa7 T A 7: 4,833,239 (GRCm39) R341* probably null Het
Slc19a3 T A 1: 83,000,424 (GRCm39) M198L probably benign Het
Slc26a8 T A 17: 28,863,753 (GRCm39) N669Y possibly damaging Het
Slco1a7 A G 6: 141,673,362 (GRCm39) F392S probably damaging Het
Snap91 T C 9: 86,674,610 (GRCm39) T534A possibly damaging Het
Susd4 A T 1: 182,715,031 (GRCm39) Y284F probably damaging Het
Tas1r1 A T 4: 152,116,381 (GRCm39) Y418N probably damaging Het
Tdrd12 A G 7: 35,187,138 (GRCm39) I584T probably damaging Het
Tmtc3 A C 10: 100,284,888 (GRCm39) N582K probably damaging Het
Tnfrsf11b G A 15: 54,119,578 (GRCm39) probably benign Het
Trim30a A G 7: 104,060,348 (GRCm39) V476A probably damaging Het
Vmn1r39 C T 6: 66,782,125 (GRCm39) M27I probably benign Het
Vmn2r59 T C 7: 41,695,744 (GRCm39) T223A probably benign Het
Vps35l A G 7: 118,345,613 (GRCm39) T49A possibly damaging Het
Vwa5a T C 9: 38,646,039 (GRCm39) I469T probably damaging Het
Wnt3a A C 11: 59,140,828 (GRCm39) D229E possibly damaging 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
PIT1430001:Erbin UTSW 13 103,996,017 (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 13 103,998,795 (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 PCR Primer
(F):5'- CATACCTTTGGAAGCTCTTCAATCTG -3'
(R):5'- ACCAGAGAGCCTGAGTTTAATTTGAAG -3'

Sequencing Primer
(F):5'- GGAAGCTCTTCAATCTGATTAGC -3'
(R):5'- GTCCAGTAGACTGTCAACTGTTG -3'
Posted On 2015-11-17