Incidental Mutation 'R9200:Unc13b'
ID 698151
Institutional Source Beutler Lab
Gene Symbol Unc13b
Ensembl Gene ENSMUSG00000028456
Gene Name unc-13 homolog B
Synonyms Munc13-2, Unc13h2
MMRRC Submission 068957-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R9200 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 43058953-43264871 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43257352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1206 (E1206G)
Ref Sequence ENSEMBL: ENSMUSP00000103586 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079978] [ENSMUST00000107952] [ENSMUST00000107953] [ENSMUST00000145899] [ENSMUST00000163653] [ENSMUST00000207569] [ENSMUST00000207708]
AlphaFold Q9Z1N9
Predicted Effect possibly damaging
Transcript: ENSMUST00000079978
AA Change: E1194G

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000078894
Gene: ENSMUSG00000028456
AA Change: E1194G

DomainStartEndE-ValueType
C2 3 94 1.2e-9 SMART
low complexity region 179 193 N/A INTRINSIC
low complexity region 292 303 N/A INTRINSIC
low complexity region 322 333 N/A INTRINSIC
C1 478 527 4.21e-18 SMART
C2 601 708 2.07e-22 SMART
DUF1041 917 1021 2.02e-53 SMART
Pfam:Membr_traf_MHD 1262 1404 4.8e-60 PFAM
C2 1438 1544 7.56e-16 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107952
AA Change: E1206G

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103586
Gene: ENSMUSG00000028456
AA Change: E1206G

DomainStartEndE-ValueType
C2 3 94 1.2e-9 SMART
low complexity region 191 205 N/A INTRINSIC
low complexity region 304 315 N/A INTRINSIC
low complexity region 334 345 N/A INTRINSIC
C1 490 539 4.21e-18 SMART
C2 613 720 2.07e-22 SMART
DUF1041 929 1033 2.02e-53 SMART
Pfam:Membr_traf_MHD 1274 1416 4.8e-60 PFAM
C2 1450 1556 7.56e-16 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107953
AA Change: E1194G

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103587
Gene: ENSMUSG00000028456
AA Change: E1194G

DomainStartEndE-ValueType
C2 3 94 1.2e-9 SMART
low complexity region 179 193 N/A INTRINSIC
low complexity region 292 303 N/A INTRINSIC
low complexity region 322 333 N/A INTRINSIC
C1 478 527 4.21e-18 SMART
C2 601 708 2.07e-22 SMART
DUF1041 917 1021 2.02e-53 SMART
Pfam:Membr_traf_MHD 1263 1403 2.3e-56 PFAM
C2 1457 1563 7.56e-16 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000145899
AA Change: E106G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128638
Gene: ENSMUSG00000028456
AA Change: E106G

DomainStartEndE-ValueType
PDB:3SWH|B 16 190 1e-84 PDB
Blast:DUF1041 55 129 2e-6 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000163653
AA Change: E1205G

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000128608
Gene: ENSMUSG00000028456
AA Change: E1205G

DomainStartEndE-ValueType
C2 3 94 1.2e-9 SMART
low complexity region 191 205 N/A INTRINSIC
low complexity region 304 315 N/A INTRINSIC
low complexity region 334 345 N/A INTRINSIC
C1 490 539 4.21e-18 SMART
C2 613 720 2.07e-22 SMART
DUF1041 929 1032 4.64e-53 SMART
Pfam:Membr_traf_MHD 1273 1415 4.8e-60 PFAM
C2 1449 1555 7.56e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000207569
AA Change: E3994G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect possibly damaging
Transcript: ENSMUST00000207708
AA Change: E1567G

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
Meta Mutation Damage Score 0.2236 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (71/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is expressed in the kidney cortical epithelial cells and is upregulated by hyperglycemia. The encoded protein shares a high level of similarity to the rat homolog, and contains 3 C2 domains and a diacylglycerol-binding C1 domain. Hyperglycemia increases the levels of diacylglycerol, which has been shown to induce apoptosis in cells transfected with this gene and thus contribute to the renal cell complications of hyperglycemia. Studies in other species also indicate a role for this protein in the priming step of synaptic vesicle exocytosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are grossly phenotypically normal. Mice older than 12 months will exhibit sporadic seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 C A 7: 119,179,839 (GRCm39) Y352* probably null Het
Adh7 C T 3: 137,927,567 (GRCm39) R38C probably benign Het
Ankrd2 A T 19: 42,028,871 (GRCm39) T145S Het
Anpep T C 7: 79,490,870 (GRCm39) N241D probably benign Het
Apaf1 G A 10: 90,845,102 (GRCm39) L990F probably benign Het
Arsi A G 18: 61,049,836 (GRCm39) T240A possibly damaging Het
Ascc3 A G 10: 50,521,787 (GRCm39) E434G possibly damaging Het
Atp2c2 A T 8: 120,474,999 (GRCm39) K535* probably null Het
B3galt4 A G 17: 34,170,384 (GRCm39) probably benign Het
Brwd1 C G 16: 95,839,154 (GRCm39) C839S probably benign Het
Cars1 C T 7: 143,129,654 (GRCm39) probably null Het
Catsperd T A 17: 56,935,229 (GRCm39) V14D unknown Het
Ccdc150 A C 1: 54,299,197 (GRCm39) T58P probably damaging Het
Cdhr17 T C 5: 17,006,659 (GRCm39) probably null Het
Cdon A G 9: 35,414,617 (GRCm39) D1164G probably benign Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cic A C 7: 24,971,940 (GRCm39) D557A probably damaging Het
Clip4 G A 17: 72,117,884 (GRCm39) G310R probably damaging Het
Dach1 G T 14: 98,065,743 (GRCm39) R695S probably damaging Het
Ddc T C 11: 11,765,388 (GRCm39) N428S possibly damaging Het
Dnah6 G A 6: 73,004,497 (GRCm39) T3822I probably benign Het
Dnmt1 T A 9: 20,819,896 (GRCm39) M1535L probably benign Het
Edc4 T C 8: 106,617,051 (GRCm39) probably null Het
Emilin2 A G 17: 71,581,229 (GRCm39) I499T possibly damaging Het
Etl4 A G 2: 20,786,702 (GRCm39) D766G probably damaging Het
Fes T C 7: 80,032,140 (GRCm39) Q414R probably benign Het
Fhod1 A G 8: 106,058,072 (GRCm39) V844A probably benign Het
Fshr A T 17: 89,354,103 (GRCm39) V85E probably benign Het
Gc T C 5: 89,593,236 (GRCm39) N61S probably benign Het
Hapstr1 T C 16: 8,673,898 (GRCm39) L275P possibly damaging Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Itga1 A T 13: 115,104,997 (GRCm39) I1059N possibly damaging Het
Itpr3 T A 17: 27,326,636 (GRCm39) V1426E probably damaging Het
Jag1 T A 2: 136,929,044 (GRCm39) Y804F probably benign Het
Lama3 A G 18: 12,605,297 (GRCm39) T1084A probably benign Het
Mdn1 A G 4: 32,760,791 (GRCm39) D4952G probably benign Het
Mmrn1 A G 6: 60,953,860 (GRCm39) T714A probably damaging Het
Nab1 T A 1: 52,529,525 (GRCm39) H124L possibly damaging Het
Nacc2 A G 2: 25,980,118 (GRCm39) F106S probably damaging Het
Nbeal1 T C 1: 60,320,425 (GRCm39) I2006T probably damaging Het
Nkpd1 C A 7: 19,257,683 (GRCm39) H487Q probably benign Het
Nop2 G A 6: 125,117,843 (GRCm39) probably null Het
Or10ag54 T A 2: 87,100,055 (GRCm39) M310K probably benign Het
Or5b124 A G 19: 13,610,595 (GRCm39) N40S probably damaging Het
Otud6b A T 4: 14,811,712 (GRCm39) Y310* probably null Het
Phyh A T 2: 4,932,247 (GRCm39) Y111F probably benign Het
Pon3 A G 6: 5,240,863 (GRCm39) L106P probably benign Het
Ppp6r3 T C 19: 3,519,748 (GRCm39) D615G probably damaging Het
Pramel23 G A 4: 143,423,856 (GRCm39) P311L possibly damaging Het
Prdm10 G A 9: 31,268,438 (GRCm39) V796I probably damaging Het
Prkdc G T 16: 15,523,153 (GRCm39) V1192F probably damaging Het
R3hdm2 T G 10: 127,293,521 (GRCm39) S142A probably damaging Het
Rab39 T C 9: 53,597,665 (GRCm39) N200S probably benign Het
Rcc2 A G 4: 140,445,664 (GRCm39) I441V probably benign Het
Rxra G A 2: 27,627,496 (GRCm39) V72I possibly damaging Het
Ryr1 T G 7: 28,794,524 (GRCm39) Q1252P probably benign Het
Sectm1a T C 11: 120,960,473 (GRCm39) Y114C probably damaging Het
Smim1 T C 4: 154,108,276 (GRCm39) probably null Het
Smpd2 C T 10: 41,363,561 (GRCm39) D301N probably benign Het
Smyd3 T C 1: 179,232,963 (GRCm39) D139G probably benign Het
Sox13 C T 1: 133,313,743 (GRCm39) C399Y probably damaging Het
Tars3 A G 7: 65,302,013 (GRCm39) E179G probably benign Het
Tas2r138 A G 6: 40,589,494 (GRCm39) F251L probably damaging Het
Tesk1 A G 4: 43,447,307 (GRCm39) E565G probably damaging Het
Tm2d1 A T 4: 98,246,200 (GRCm39) F201I possibly damaging Het
Tom1l2 C A 11: 60,120,942 (GRCm39) D501Y probably benign Het
Trim39 G T 17: 36,579,667 (GRCm39) T96K probably benign Het
Ubash3a A G 17: 31,436,971 (GRCm39) H196R probably damaging Het
Usp17lc A T 7: 103,068,105 (GRCm39) T467S probably benign Het
Vmn1r128 T C 7: 21,083,316 (GRCm39) S7P possibly damaging Het
Vmn1r185 T A 7: 26,311,073 (GRCm39) H144L possibly damaging Het
Wfdc6b A T 2: 164,455,708 (GRCm39) R12S possibly damaging Het
Zmynd8 A T 2: 165,682,005 (GRCm39) D175E probably benign Het
Other mutations in Unc13b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Unc13b APN 4 43,240,285 (GRCm39) missense probably damaging 1.00
IGL00832:Unc13b APN 4 43,258,921 (GRCm39) missense probably damaging 1.00
IGL01111:Unc13b APN 4 43,096,927 (GRCm39) missense possibly damaging 0.76
IGL01115:Unc13b APN 4 43,258,492 (GRCm39) missense probably damaging 1.00
IGL01137:Unc13b APN 4 43,091,291 (GRCm39) missense probably damaging 1.00
IGL01637:Unc13b APN 4 43,241,066 (GRCm39) missense probably damaging 1.00
IGL01789:Unc13b APN 4 43,239,462 (GRCm39) missense probably damaging 1.00
IGL01792:Unc13b APN 4 43,250,218 (GRCm39) missense probably damaging 0.99
IGL01877:Unc13b APN 4 43,249,583 (GRCm39) critical splice donor site probably null
IGL01924:Unc13b APN 4 43,239,385 (GRCm39) nonsense probably null
IGL02087:Unc13b APN 4 43,091,270 (GRCm39) missense probably null 1.00
IGL02197:Unc13b APN 4 43,165,828 (GRCm39) missense probably damaging 0.99
IGL02504:Unc13b APN 4 43,263,031 (GRCm39) missense probably damaging 1.00
IGL02659:Unc13b APN 4 43,235,332 (GRCm39) missense probably damaging 1.00
IGL03031:Unc13b APN 4 43,235,368 (GRCm39) missense probably damaging 1.00
IGL03036:Unc13b APN 4 43,235,249 (GRCm39) missense probably damaging 1.00
IGL03209:Unc13b APN 4 43,239,351 (GRCm39) missense probably damaging 0.99
IGL03352:Unc13b APN 4 43,237,110 (GRCm39) missense possibly damaging 0.90
BB006:Unc13b UTSW 4 43,174,399 (GRCm39) missense unknown
BB016:Unc13b UTSW 4 43,174,399 (GRCm39) missense unknown
G1Funyon:Unc13b UTSW 4 43,263,568 (GRCm39) missense probably benign
P0028:Unc13b UTSW 4 43,256,225 (GRCm39) missense probably damaging 1.00
PIT4585001:Unc13b UTSW 4 43,091,298 (GRCm39) missense probably benign 0.03
R0019:Unc13b UTSW 4 43,096,990 (GRCm39) missense possibly damaging 0.58
R0019:Unc13b UTSW 4 43,096,990 (GRCm39) missense possibly damaging 0.58
R0335:Unc13b UTSW 4 43,236,983 (GRCm39) missense possibly damaging 0.95
R0504:Unc13b UTSW 4 43,263,559 (GRCm39) missense probably damaging 0.99
R0631:Unc13b UTSW 4 43,182,849 (GRCm39) missense possibly damaging 0.47
R0748:Unc13b UTSW 4 43,241,164 (GRCm39) splice site probably benign
R1275:Unc13b UTSW 4 43,235,366 (GRCm39) missense probably damaging 1.00
R1293:Unc13b UTSW 4 43,235,190 (GRCm39) missense probably damaging 1.00
R1434:Unc13b UTSW 4 43,239,385 (GRCm39) nonsense probably null
R1552:Unc13b UTSW 4 43,237,144 (GRCm39) missense probably damaging 0.99
R1591:Unc13b UTSW 4 43,244,747 (GRCm39) missense probably damaging 1.00
R1628:Unc13b UTSW 4 43,263,371 (GRCm39) missense probably damaging 1.00
R1740:Unc13b UTSW 4 43,240,285 (GRCm39) missense probably damaging 1.00
R1839:Unc13b UTSW 4 43,258,308 (GRCm39) splice site probably benign
R2045:Unc13b UTSW 4 43,091,266 (GRCm39) missense probably damaging 1.00
R2191:Unc13b UTSW 4 43,245,566 (GRCm39) nonsense probably null
R2259:Unc13b UTSW 4 43,182,780 (GRCm39) missense possibly damaging 0.87
R2307:Unc13b UTSW 4 43,239,854 (GRCm39) missense probably damaging 0.98
R2317:Unc13b UTSW 4 43,245,514 (GRCm39) missense probably damaging 1.00
R2402:Unc13b UTSW 4 43,095,843 (GRCm39) missense probably benign
R2847:Unc13b UTSW 4 43,180,404 (GRCm39) missense probably benign 0.04
R3414:Unc13b UTSW 4 43,234,658 (GRCm39) splice site probably benign
R3436:Unc13b UTSW 4 43,097,028 (GRCm39) splice site probably benign
R3955:Unc13b UTSW 4 43,256,834 (GRCm39) missense probably damaging 1.00
R3957:Unc13b UTSW 4 43,256,834 (GRCm39) missense probably damaging 1.00
R4015:Unc13b UTSW 4 43,237,801 (GRCm39) missense probably damaging 1.00
R4650:Unc13b UTSW 4 43,261,035 (GRCm39) missense probably damaging 0.97
R4836:Unc13b UTSW 4 43,237,137 (GRCm39) missense probably damaging 1.00
R5041:Unc13b UTSW 4 43,237,836 (GRCm39) missense probably benign 0.41
R5413:Unc13b UTSW 4 43,257,936 (GRCm39) critical splice donor site probably null
R5994:Unc13b UTSW 4 43,172,596 (GRCm39) intron probably benign
R6015:Unc13b UTSW 4 43,177,995 (GRCm39) nonsense probably null
R6090:Unc13b UTSW 4 43,239,306 (GRCm39) missense probably damaging 1.00
R6242:Unc13b UTSW 4 43,165,800 (GRCm39) missense possibly damaging 0.92
R6246:Unc13b UTSW 4 43,216,246 (GRCm39) missense probably benign 0.18
R6427:Unc13b UTSW 4 43,176,966 (GRCm39) unclassified probably benign
R6660:Unc13b UTSW 4 43,177,412 (GRCm39) unclassified probably benign
R6670:Unc13b UTSW 4 43,255,562 (GRCm39) missense probably damaging 0.99
R6753:Unc13b UTSW 4 43,239,331 (GRCm39) missense probably damaging 1.00
R6858:Unc13b UTSW 4 43,165,828 (GRCm39) missense possibly damaging 0.85
R6886:Unc13b UTSW 4 43,170,156 (GRCm39) intron probably benign
R6969:Unc13b UTSW 4 43,263,538 (GRCm39) missense possibly damaging 0.94
R6994:Unc13b UTSW 4 43,173,203 (GRCm39) intron probably benign
R6994:Unc13b UTSW 4 43,171,403 (GRCm39) intron probably benign
R7080:Unc13b UTSW 4 43,171,926 (GRCm39) missense unknown
R7117:Unc13b UTSW 4 43,216,544 (GRCm39) missense probably benign 0.33
R7132:Unc13b UTSW 4 43,215,757 (GRCm39) missense probably benign 0.17
R7181:Unc13b UTSW 4 43,258,893 (GRCm39) missense probably damaging 0.99
R7192:Unc13b UTSW 4 43,258,519 (GRCm39) missense probably damaging 1.00
R7246:Unc13b UTSW 4 43,172,910 (GRCm39) missense unknown
R7342:Unc13b UTSW 4 43,258,703 (GRCm39) missense probably damaging 0.99
R7345:Unc13b UTSW 4 43,173,966 (GRCm39) missense unknown
R7355:Unc13b UTSW 4 43,237,754 (GRCm39) missense probably damaging 1.00
R7391:Unc13b UTSW 4 43,216,459 (GRCm39) missense probably benign 0.03
R7419:Unc13b UTSW 4 43,174,023 (GRCm39) missense unknown
R7424:Unc13b UTSW 4 43,172,235 (GRCm39) missense unknown
R7517:Unc13b UTSW 4 43,215,765 (GRCm39) missense probably benign
R7532:Unc13b UTSW 4 43,249,565 (GRCm39) missense probably benign 0.44
R7564:Unc13b UTSW 4 43,091,258 (GRCm39) missense probably damaging 1.00
R7598:Unc13b UTSW 4 43,263,569 (GRCm39) missense probably benign 0.20
R7604:Unc13b UTSW 4 43,256,776 (GRCm39) missense possibly damaging 0.95
R7604:Unc13b UTSW 4 43,170,102 (GRCm39) missense unknown
R7643:Unc13b UTSW 4 43,216,333 (GRCm39) missense probably benign
R7718:Unc13b UTSW 4 43,173,854 (GRCm39) missense unknown
R7735:Unc13b UTSW 4 43,165,791 (GRCm39) missense probably damaging 1.00
R7756:Unc13b UTSW 4 43,177,312 (GRCm39) small deletion probably benign
R7757:Unc13b UTSW 4 43,177,341 (GRCm39) small insertion probably benign
R7757:Unc13b UTSW 4 43,177,330 (GRCm39) small insertion probably benign
R7757:Unc13b UTSW 4 43,177,312 (GRCm39) small deletion probably benign
R7758:Unc13b UTSW 4 43,177,344 (GRCm39) small insertion probably benign
R7758:Unc13b UTSW 4 43,177,312 (GRCm39) small insertion probably benign
R7781:Unc13b UTSW 4 43,259,546 (GRCm39) missense possibly damaging 0.87
R7793:Unc13b UTSW 4 43,172,737 (GRCm39) missense unknown
R7858:Unc13b UTSW 4 43,176,285 (GRCm39) missense unknown
R7867:Unc13b UTSW 4 43,232,573 (GRCm39) nonsense probably null
R7897:Unc13b UTSW 4 43,171,860 (GRCm39) missense unknown
R7904:Unc13b UTSW 4 43,217,075 (GRCm39) missense probably benign
R7929:Unc13b UTSW 4 43,174,399 (GRCm39) missense unknown
R7984:Unc13b UTSW 4 43,173,973 (GRCm39) missense unknown
R8069:Unc13b UTSW 4 43,177,597 (GRCm39) missense unknown
R8101:Unc13b UTSW 4 43,239,918 (GRCm39) missense probably benign 0.08
R8246:Unc13b UTSW 4 43,175,954 (GRCm39) missense unknown
R8289:Unc13b UTSW 4 43,172,524 (GRCm39) nonsense probably null
R8301:Unc13b UTSW 4 43,263,568 (GRCm39) missense probably benign
R8397:Unc13b UTSW 4 43,217,290 (GRCm39) missense probably benign 0.12
R8421:Unc13b UTSW 4 43,178,304 (GRCm39) missense unknown
R8738:Unc13b UTSW 4 43,177,564 (GRCm39) missense unknown
R8746:Unc13b UTSW 4 43,176,120 (GRCm39) missense unknown
R8766:Unc13b UTSW 4 43,174,722 (GRCm39) missense unknown
R8825:Unc13b UTSW 4 43,237,683 (GRCm39) splice site probably benign
R8834:Unc13b UTSW 4 43,175,954 (GRCm39) missense unknown
R8862:Unc13b UTSW 4 43,235,207 (GRCm39) missense probably damaging 1.00
R8864:Unc13b UTSW 4 43,174,724 (GRCm39) missense unknown
R8889:Unc13b UTSW 4 43,176,484 (GRCm39) missense unknown
R8892:Unc13b UTSW 4 43,176,484 (GRCm39) missense unknown
R8904:Unc13b UTSW 4 43,178,531 (GRCm39) intron probably benign
R9089:Unc13b UTSW 4 43,095,847 (GRCm39) missense probably damaging 1.00
R9144:Unc13b UTSW 4 43,173,649 (GRCm39) missense unknown
R9149:Unc13b UTSW 4 43,176,186 (GRCm39) missense unknown
R9173:Unc13b UTSW 4 43,177,421 (GRCm39) missense unknown
R9232:Unc13b UTSW 4 43,240,321 (GRCm39) missense probably benign 0.03
R9269:Unc13b UTSW 4 43,171,955 (GRCm39) missense unknown
R9320:Unc13b UTSW 4 43,171,044 (GRCm39) missense unknown
R9335:Unc13b UTSW 4 43,255,551 (GRCm39) missense probably damaging 0.99
R9335:Unc13b UTSW 4 43,216,123 (GRCm39) missense possibly damaging 0.86
R9352:Unc13b UTSW 4 43,177,313 (GRCm39) nonsense probably null
R9352:Unc13b UTSW 4 43,177,312 (GRCm39) small insertion probably benign
R9378:Unc13b UTSW 4 43,173,282 (GRCm39) missense unknown
R9382:Unc13b UTSW 4 43,172,512 (GRCm39) missense unknown
R9569:Unc13b UTSW 4 43,177,312 (GRCm39) small deletion probably benign
R9622:Unc13b UTSW 4 43,172,513 (GRCm39) missense
R9687:Unc13b UTSW 4 43,174,920 (GRCm39) missense unknown
R9704:Unc13b UTSW 4 43,237,102 (GRCm39) missense probably benign 0.31
R9721:Unc13b UTSW 4 43,101,869 (GRCm39) missense probably benign
R9753:Unc13b UTSW 4 43,182,842 (GRCm39) nonsense probably null
RF016:Unc13b UTSW 4 43,177,350 (GRCm39) small insertion probably benign
RF016:Unc13b UTSW 4 43,177,347 (GRCm39) small insertion probably benign
RF041:Unc13b UTSW 4 43,177,338 (GRCm39) small insertion probably benign
RF056:Unc13b UTSW 4 43,177,359 (GRCm39) small insertion probably benign
Z1176:Unc13b UTSW 4 43,177,764 (GRCm39) missense unknown
Z1176:Unc13b UTSW 4 43,177,191 (GRCm39) missense unknown
Z1176:Unc13b UTSW 4 43,171,419 (GRCm39) missense unknown
Z1176:Unc13b UTSW 4 43,261,043 (GRCm39) missense probably benign 0.11
Z1177:Unc13b UTSW 4 43,173,669 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GAGACTTCTCTGAATTGGCTTTAG -3'
(R):5'- AACCCAGTGGCTACTTTTCC -3'

Sequencing Primer
(F):5'- AATGTGAAGTGCCTGTAGCC -3'
(R):5'- CTTTCCAGGATTTTACCACAGTG -3'
Posted On 2022-02-07