Incidental Mutation 'R1563:Otof'
ID 170741
Institutional Source Beutler Lab
Gene Symbol Otof
Ensembl Gene ENSMUSG00000062372
Gene Name otoferlin
Synonyms
MMRRC Submission 039602-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R1563 (G1)
Quality Score 168
Status Validated
Chromosome 5
Chromosomal Location 30524406-30619276 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30528349 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1870 (T1870A)
Ref Sequence ENSEMBL: ENSMUSP00000073803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074171] [ENSMUST00000101448] [ENSMUST00000114747]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000074171
AA Change: T1870A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000073803
Gene: ENSMUSG00000062372
AA Change: T1870A

DomainStartEndE-ValueType
C2 2 97 6.83e-1 SMART
C2 254 352 3.76e-11 SMART
FerI 338 409 7.91e-38 SMART
C2 417 528 1.75e-11 SMART
low complexity region 607 618 N/A INTRINSIC
FerB 841 917 5.13e-46 SMART
C2 960 1067 1.77e-7 SMART
low complexity region 1191 1202 N/A INTRINSIC
low complexity region 1265 1276 N/A INTRINSIC
low complexity region 1293 1323 N/A INTRINSIC
low complexity region 1370 1385 N/A INTRINSIC
low complexity region 1436 1447 N/A INTRINSIC
C2 1493 1592 6.54e-11 SMART
C2 1733 1863 4.02e0 SMART
Pfam:Ferlin_C 1895 1994 7.2e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101448
SMART Domains Protein: ENSMUSP00000098992
Gene: ENSMUSG00000073102

DomainStartEndE-ValueType
low complexity region 33 55 N/A INTRINSIC
low complexity region 62 79 N/A INTRINSIC
Pfam:NYD-SP28 100 200 1.7e-33 PFAM
coiled coil region 280 318 N/A INTRINSIC
low complexity region 455 473 N/A INTRINSIC
low complexity region 559 569 N/A INTRINSIC
low complexity region 599 612 N/A INTRINSIC
Pfam:NYD-SP28_assoc 673 732 2.2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114747
AA Change: T1865A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110395
Gene: ENSMUSG00000062372
AA Change: T1865A

DomainStartEndE-ValueType
C2 2 97 6.83e-1 SMART
C2 269 367 3.76e-11 SMART
FerI 353 424 7.91e-38 SMART
C2 432 543 1.75e-11 SMART
low complexity region 622 633 N/A INTRINSIC
FerB 856 932 5.13e-46 SMART
C2 975 1082 1.77e-7 SMART
Pfam:C2 1153 1236 1.8e-1 PFAM
low complexity region 1260 1271 N/A INTRINSIC
low complexity region 1288 1318 N/A INTRINSIC
low complexity region 1365 1380 N/A INTRINSIC
low complexity region 1431 1442 N/A INTRINSIC
C2 1488 1587 6.54e-11 SMART
C2 1728 1858 4.02e0 SMART
low complexity region 1903 1915 N/A INTRINSIC
transmembrane domain 1959 1981 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144125
SMART Domains Protein: ENSMUSP00000120679
Gene: ENSMUSG00000062372

DomainStartEndE-ValueType
C2 2 97 6.83e-1 SMART
C2 254 352 3.76e-11 SMART
FerI 338 409 7.91e-38 SMART
C2 417 528 1.75e-11 SMART
low complexity region 607 618 N/A INTRINSIC
FerB 841 917 5.13e-46 SMART
C2 960 1067 1.77e-7 SMART
low complexity region 1191 1202 N/A INTRINSIC
low complexity region 1265 1276 N/A INTRINSIC
low complexity region 1293 1323 N/A INTRINSIC
low complexity region 1370 1385 N/A INTRINSIC
low complexity region 1436 1447 N/A INTRINSIC
C2 1493 1592 6.54e-11 SMART
C2 1733 1863 4.02e0 SMART
Pfam:Ferlin_C 1895 1994 7.2e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150734
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200001
Meta Mutation Damage Score 0.0925 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.4%
Validation Efficiency 98% (82/84)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants have no detectable auditory brainstem response at any frequency tested. Otoacoustic transmission distortion products are detected. Direct electrical stimulation of cochlear ganglia elicits brainstem responses. On depolarization, inner hair cells release almost no neurotransmitter. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik T C 5: 115,001,569 (GRCm39) M22T probably benign Het
A930018M24Rik A G 14: 51,134,576 (GRCm39) L22P probably damaging Het
Aipl1 A T 11: 71,927,538 (GRCm39) M59K probably damaging Het
Atg2b T C 12: 105,589,747 (GRCm39) I1835V probably damaging Het
Cacna1i A T 15: 80,274,056 (GRCm39) probably benign Het
Cacna1i T C 15: 80,205,389 (GRCm39) V115A probably damaging Het
Catsperb T A 12: 101,554,361 (GRCm39) M685K probably damaging Het
Cdh10 T A 15: 18,986,853 (GRCm39) Y361* probably null Het
Clcn4 C T 7: 7,296,981 (GRCm39) C219Y probably damaging Het
Cpeb2 G A 5: 43,443,080 (GRCm39) V924M probably damaging Het
Cpxm2 T C 7: 131,745,411 (GRCm39) E138G probably benign Het
Dennd1a T C 2: 37,748,441 (GRCm39) Y346C probably damaging Het
Dnah8 T A 17: 30,854,638 (GRCm39) L100Q probably benign Het
Dnajc6 A C 4: 101,456,334 (GRCm39) N76T probably damaging Het
Ehbp1 A G 11: 22,009,231 (GRCm39) L954P probably damaging Het
Eral1 A T 11: 77,966,232 (GRCm39) D315E probably benign Het
Fbln2 G T 6: 91,240,365 (GRCm39) E724* probably null Het
Fyco1 A G 9: 123,656,247 (GRCm39) probably benign Het
Fzd3 T A 14: 65,473,173 (GRCm39) E198D probably damaging Het
Fzd9 T C 5: 135,279,408 (GRCm39) N159S probably damaging Het
Galnt6 T A 15: 100,601,259 (GRCm39) Q340L probably benign Het
Gm20939 C T 17: 95,184,522 (GRCm39) A390V probably damaging Het
Gm5435 T G 12: 82,542,464 (GRCm39) noncoding transcript Het
Gm9949 A C 18: 62,317,089 (GRCm39) probably benign Het
Gprc5b G A 7: 118,582,984 (GRCm39) T295I probably benign Het
Gria2 G T 3: 80,598,704 (GRCm39) Q777K probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Haao T C 17: 84,142,318 (GRCm39) T174A probably benign Het
Hes6 A T 1: 91,340,858 (GRCm39) M1K probably null Het
Hook3 G T 8: 26,600,780 (GRCm39) Q43K probably benign Het
Klhl35 T C 7: 99,120,902 (GRCm39) V390A probably damaging Het
Myh9 G T 15: 77,656,057 (GRCm39) T1151K probably damaging Het
Nbn A T 4: 15,981,668 (GRCm39) I587F possibly damaging Het
Nek4 A G 14: 30,704,408 (GRCm39) D696G probably damaging Het
Niban1 A T 1: 151,591,424 (GRCm39) Y522F possibly damaging Het
Nlrp2 T C 7: 5,311,724 (GRCm39) D52G probably damaging Het
Oit3 G T 10: 59,263,896 (GRCm39) R413S probably damaging Het
Or4k48 T A 2: 111,476,027 (GRCm39) H105L probably damaging Het
Or6c1b A G 10: 129,273,580 (GRCm39) M300V probably benign Het
Pdgfd T C 9: 6,293,939 (GRCm39) probably null Het
Pitrm1 T C 13: 6,613,506 (GRCm39) V526A possibly damaging Het
Pknox1 T C 17: 31,814,256 (GRCm39) S194P probably damaging Het
Plekhg5 T C 4: 152,181,266 (GRCm39) S8P probably benign Het
Ppp1r13b T C 12: 111,807,416 (GRCm39) E157G probably damaging Het
Psmd3 C T 11: 98,585,051 (GRCm39) R466W probably damaging Het
Ptgfrn A G 3: 100,967,967 (GRCm39) F542S possibly damaging Het
Ptgs1 A T 2: 36,135,214 (GRCm39) M393L possibly damaging Het
Qpct T A 17: 79,371,492 (GRCm39) S87T probably benign Het
Qtrt1 T A 9: 21,330,607 (GRCm39) V269D probably benign Het
Rassf9 C G 10: 102,380,821 (GRCm39) R68G probably damaging Het
Relch A G 1: 105,647,259 (GRCm39) Y707C probably damaging Het
Rif1 A G 2: 51,963,235 (GRCm39) E25G probably damaging Het
Rnf213 T C 11: 119,305,352 (GRCm39) F528L probably benign Het
Sgip1 T C 4: 102,823,457 (GRCm39) S693P probably benign Het
She A G 3: 89,761,921 (GRCm39) D460G probably benign Het
Sipa1l1 G T 12: 82,387,935 (GRCm39) V54L probably benign Het
Slc8a3 T A 12: 81,251,781 (GRCm39) D640V possibly damaging Het
Smurf1 T A 5: 144,819,323 (GRCm39) E601D probably damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Synpo2l A G 14: 20,711,346 (GRCm39) S425P probably damaging Het
Tbck T C 3: 132,421,454 (GRCm39) V187A possibly damaging Het
Tcf23 A T 5: 31,126,175 (GRCm39) H18L probably benign Het
Tcp11l2 A G 10: 84,420,808 (GRCm39) S16G probably damaging Het
Tekt2 T A 4: 126,217,200 (GRCm39) M233L probably benign Het
Tex14 T C 11: 87,427,634 (GRCm39) S29P probably damaging Het
Tjp2 T A 19: 24,110,067 (GRCm39) N59I probably damaging Het
Tlr5 G A 1: 182,802,575 (GRCm39) M626I probably benign Het
Tnn A T 1: 159,952,985 (GRCm39) V685D probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trhr G A 15: 44,060,497 (GRCm39) V6I probably benign Het
Trim30c C T 7: 104,032,158 (GRCm39) R301Q probably benign Het
Usp51 T C X: 151,790,988 (GRCm39) I194T probably benign Het
Vmn2r63 A G 7: 42,553,550 (GRCm39) S569P probably benign Het
Vps26a T G 10: 62,300,459 (GRCm39) I236L probably benign Het
Zc3h7b C T 15: 81,661,289 (GRCm39) P376L probably benign Het
Zcchc14 T C 8: 122,330,718 (GRCm39) M882V probably benign Het
Zfhx2 A G 14: 55,302,545 (GRCm39) V1813A probably benign Het
Zswim2 C T 2: 83,745,626 (GRCm39) G604D possibly damaging Het
Zzef1 C T 11: 72,739,559 (GRCm39) Q669* probably null Het
Other mutations in Otof
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Otof APN 5 30,533,248 (GRCm39) missense probably damaging 1.00
IGL00391:Otof APN 5 30,532,967 (GRCm39) missense probably damaging 1.00
IGL00579:Otof APN 5 30,556,666 (GRCm39) missense possibly damaging 0.88
IGL00671:Otof APN 5 30,543,097 (GRCm39) critical splice donor site probably null
IGL01019:Otof APN 5 30,562,560 (GRCm39) missense probably benign 0.01
IGL01025:Otof APN 5 30,541,597 (GRCm39) missense possibly damaging 0.82
IGL01086:Otof APN 5 30,533,617 (GRCm39) critical splice donor site probably null
IGL01110:Otof APN 5 30,619,069 (GRCm39) missense probably damaging 1.00
IGL01160:Otof APN 5 30,538,879 (GRCm39) missense probably benign 0.00
IGL01285:Otof APN 5 30,562,527 (GRCm39) missense probably damaging 1.00
IGL01329:Otof APN 5 30,598,723 (GRCm39) missense probably benign 0.00
IGL01337:Otof APN 5 30,576,856 (GRCm39) missense probably benign 0.17
IGL01337:Otof APN 5 30,563,121 (GRCm39) missense possibly damaging 0.93
IGL01834:Otof APN 5 30,556,564 (GRCm39) missense probably damaging 1.00
IGL01872:Otof APN 5 30,536,598 (GRCm39) splice site probably benign
IGL01969:Otof APN 5 30,539,827 (GRCm39) splice site probably benign
IGL02075:Otof APN 5 30,528,070 (GRCm39) missense probably benign 0.23
IGL02077:Otof APN 5 30,556,579 (GRCm39) missense probably damaging 1.00
IGL02136:Otof APN 5 30,531,336 (GRCm39) missense possibly damaging 0.90
IGL02227:Otof APN 5 30,528,128 (GRCm39) missense probably damaging 1.00
IGL02475:Otof APN 5 30,534,026 (GRCm39) missense probably damaging 1.00
IGL02812:Otof APN 5 30,531,426 (GRCm39) missense probably benign 0.08
IGL02864:Otof APN 5 30,543,685 (GRCm39) missense probably damaging 0.99
IGL03176:Otof APN 5 30,562,520 (GRCm39) splice site probably null
R0285:Otof UTSW 5 30,536,877 (GRCm39) critical splice donor site probably null
R0421:Otof UTSW 5 30,528,912 (GRCm39) missense possibly damaging 0.94
R0570:Otof UTSW 5 30,529,225 (GRCm39) splice site probably benign
R0599:Otof UTSW 5 30,528,049 (GRCm39) missense probably damaging 1.00
R0675:Otof UTSW 5 30,539,705 (GRCm39) missense probably benign 0.01
R0715:Otof UTSW 5 30,552,041 (GRCm39) missense probably damaging 0.99
R1019:Otof UTSW 5 30,528,087 (GRCm39) missense probably damaging 0.96
R1183:Otof UTSW 5 30,529,256 (GRCm39) missense probably damaging 1.00
R1435:Otof UTSW 5 30,536,039 (GRCm39) missense probably benign 0.00
R1469:Otof UTSW 5 30,537,571 (GRCm39) missense probably benign 0.00
R1469:Otof UTSW 5 30,537,571 (GRCm39) missense probably benign 0.00
R1474:Otof UTSW 5 30,536,876 (GRCm39) critical splice donor site probably null
R1524:Otof UTSW 5 30,536,900 (GRCm39) missense probably benign 0.03
R1732:Otof UTSW 5 30,543,815 (GRCm39) missense probably damaging 1.00
R1822:Otof UTSW 5 30,536,054 (GRCm39) missense probably benign 0.00
R1845:Otof UTSW 5 30,529,067 (GRCm39) nonsense probably null
R1925:Otof UTSW 5 30,551,532 (GRCm39) missense probably benign 0.37
R1938:Otof UTSW 5 30,533,713 (GRCm39) missense probably benign 0.00
R1968:Otof UTSW 5 30,545,998 (GRCm39) missense probably damaging 1.00
R1996:Otof UTSW 5 30,578,381 (GRCm39) missense probably benign 0.01
R1999:Otof UTSW 5 30,546,116 (GRCm39) missense probably benign 0.19
R2027:Otof UTSW 5 30,578,358 (GRCm39) missense probably benign 0.08
R2138:Otof UTSW 5 30,619,114 (GRCm39) missense probably benign 0.01
R2173:Otof UTSW 5 30,543,718 (GRCm39) missense probably damaging 1.00
R2245:Otof UTSW 5 30,527,551 (GRCm39) missense probably damaging 1.00
R3011:Otof UTSW 5 30,540,184 (GRCm39) missense probably damaging 1.00
R3105:Otof UTSW 5 30,539,145 (GRCm39) missense probably benign 0.03
R3442:Otof UTSW 5 30,529,033 (GRCm39) missense probably damaging 1.00
R3710:Otof UTSW 5 30,542,610 (GRCm39) missense probably benign
R3715:Otof UTSW 5 30,534,215 (GRCm39) nonsense probably null
R3806:Otof UTSW 5 30,543,843 (GRCm39) critical splice acceptor site probably null
R3975:Otof UTSW 5 30,528,056 (GRCm39) missense probably damaging 1.00
R4067:Otof UTSW 5 30,556,635 (GRCm39) missense probably damaging 1.00
R4077:Otof UTSW 5 30,576,850 (GRCm39) missense possibly damaging 0.89
R4166:Otof UTSW 5 30,539,762 (GRCm39) missense probably damaging 1.00
R4451:Otof UTSW 5 30,542,508 (GRCm39) missense possibly damaging 0.77
R4485:Otof UTSW 5 30,532,344 (GRCm39) missense possibly damaging 0.77
R4600:Otof UTSW 5 30,529,244 (GRCm39) missense probably damaging 1.00
R4646:Otof UTSW 5 30,540,914 (GRCm39) missense possibly damaging 0.82
R4648:Otof UTSW 5 30,540,914 (GRCm39) missense possibly damaging 0.82
R4669:Otof UTSW 5 30,578,318 (GRCm39) critical splice donor site probably null
R4773:Otof UTSW 5 30,552,026 (GRCm39) missense probably benign 0.05
R4839:Otof UTSW 5 30,576,748 (GRCm39) missense probably damaging 0.99
R4907:Otof UTSW 5 30,536,005 (GRCm39) critical splice donor site probably null
R4961:Otof UTSW 5 30,540,837 (GRCm39) intron probably benign
R4991:Otof UTSW 5 30,551,525 (GRCm39) missense probably damaging 1.00
R5015:Otof UTSW 5 30,540,238 (GRCm39) missense probably damaging 1.00
R5036:Otof UTSW 5 30,541,783 (GRCm39) missense possibly damaging 0.54
R5038:Otof UTSW 5 30,541,783 (GRCm39) missense possibly damaging 0.54
R5253:Otof UTSW 5 30,527,483 (GRCm39) missense probably damaging 1.00
R5336:Otof UTSW 5 30,534,064 (GRCm39) missense probably benign 0.01
R5365:Otof UTSW 5 30,539,144 (GRCm39) missense probably damaging 0.99
R5901:Otof UTSW 5 30,532,323 (GRCm39) missense probably damaging 1.00
R6211:Otof UTSW 5 30,529,244 (GRCm39) missense probably damaging 0.99
R6318:Otof UTSW 5 30,571,888 (GRCm39) missense probably damaging 1.00
R6331:Otof UTSW 5 30,529,279 (GRCm39) missense possibly damaging 0.94
R6671:Otof UTSW 5 30,576,877 (GRCm39) missense probably benign
R6701:Otof UTSW 5 30,528,141 (GRCm39) nonsense probably null
R6792:Otof UTSW 5 30,532,978 (GRCm39) missense probably damaging 1.00
R6853:Otof UTSW 5 30,545,583 (GRCm39) missense probably damaging 1.00
R6940:Otof UTSW 5 30,528,987 (GRCm39) missense probably damaging 0.96
R7037:Otof UTSW 5 30,538,882 (GRCm39) missense probably benign 0.32
R7060:Otof UTSW 5 30,545,700 (GRCm39) missense possibly damaging 0.84
R7089:Otof UTSW 5 30,528,912 (GRCm39) missense possibly damaging 0.94
R7165:Otof UTSW 5 30,532,964 (GRCm39) missense probably damaging 0.99
R7178:Otof UTSW 5 30,540,878 (GRCm39) missense possibly damaging 0.50
R7298:Otof UTSW 5 30,545,614 (GRCm39) missense probably damaging 1.00
R7393:Otof UTSW 5 30,527,614 (GRCm39) missense probably benign 0.45
R7397:Otof UTSW 5 30,533,051 (GRCm39) missense probably damaging 1.00
R7400:Otof UTSW 5 30,542,532 (GRCm39) missense probably benign 0.04
R7428:Otof UTSW 5 30,547,169 (GRCm39) missense probably damaging 1.00
R7456:Otof UTSW 5 30,552,005 (GRCm39) missense probably damaging 1.00
R7505:Otof UTSW 5 30,528,364 (GRCm39) missense probably benign 0.00
R7714:Otof UTSW 5 30,527,597 (GRCm39) missense probably damaging 0.99
R8002:Otof UTSW 5 30,537,954 (GRCm39) missense probably benign 0.10
R8032:Otof UTSW 5 30,619,142 (GRCm39) start codon destroyed probably benign 0.07
R8153:Otof UTSW 5 30,546,079 (GRCm39) missense probably damaging 1.00
R8158:Otof UTSW 5 30,537,538 (GRCm39) missense probably benign 0.37
R8159:Otof UTSW 5 30,537,538 (GRCm39) missense probably benign 0.37
R8441:Otof UTSW 5 30,538,200 (GRCm39) missense probably damaging 0.99
R8738:Otof UTSW 5 30,545,968 (GRCm39) nonsense probably null
R8813:Otof UTSW 5 30,540,242 (GRCm39) missense probably benign 0.02
R8835:Otof UTSW 5 30,528,264 (GRCm39) missense probably benign 0.44
R8852:Otof UTSW 5 30,529,044 (GRCm39) missense possibly damaging 0.94
R8869:Otof UTSW 5 30,578,325 (GRCm39) missense probably benign 0.08
R9029:Otof UTSW 5 30,527,419 (GRCm39) critical splice donor site probably null
R9031:Otof UTSW 5 30,537,532 (GRCm39) missense probably benign
R9061:Otof UTSW 5 30,546,001 (GRCm39) missense possibly damaging 0.50
R9100:Otof UTSW 5 30,539,696 (GRCm39) missense possibly damaging 0.80
R9121:Otof UTSW 5 30,536,462 (GRCm39) missense probably benign 0.04
R9188:Otof UTSW 5 30,534,095 (GRCm39) missense probably damaging 1.00
R9218:Otof UTSW 5 30,542,469 (GRCm39) missense probably benign
R9280:Otof UTSW 5 30,528,894 (GRCm39) missense probably damaging 0.98
R9395:Otof UTSW 5 30,532,976 (GRCm39) missense probably damaging 1.00
R9400:Otof UTSW 5 30,540,863 (GRCm39) critical splice donor site probably null
R9407:Otof UTSW 5 30,538,265 (GRCm39) missense probably damaging 1.00
R9616:Otof UTSW 5 30,539,708 (GRCm39) missense possibly damaging 0.95
R9665:Otof UTSW 5 30,584,895 (GRCm39) missense probably benign 0.22
R9748:Otof UTSW 5 30,540,998 (GRCm39) missense probably damaging 1.00
R9783:Otof UTSW 5 30,536,576 (GRCm39) missense probably benign
Z1176:Otof UTSW 5 30,528,930 (GRCm39) missense probably damaging 0.98
Z1177:Otof UTSW 5 30,541,002 (GRCm39) missense probably damaging 1.00
Z1177:Otof UTSW 5 30,533,641 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCACTTTGCCCTGAAGGAAAGAAC -3'
(R):5'- CCTGGGTCTCAGATTGCACCAAAC -3'

Sequencing Primer
(F):5'- CAGAAGAGTTCCAGTGTCTGACC -3'
(R):5'- TTCAGTGGATGCACTATAGCCAG -3'
Posted On 2014-04-13