Incidental Mutation 'R2124:Wfdc6b'
ID 229639
Institutional Source Beutler Lab
Gene Symbol Wfdc6b
Ensembl Gene ENSMUSG00000070531
Gene Name WAP four-disulfide core domain 6B
Synonyms Wfdc6
MMRRC Submission 040127-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R2124 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 164455442-164460132 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 164459363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 142 (R142C)
Ref Sequence ENSEMBL: ENSMUSP00000091906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094346] [ENSMUST00000094351] [ENSMUST00000109338] [ENSMUST00000109339]
AlphaFold F6ULY1
Predicted Effect probably benign
Transcript: ENSMUST00000094346
AA Change: R142C

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000091906
Gene: ENSMUSG00000070531
AA Change: R142C

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
WAP 42 84 2.99e-1 SMART
KU 86 139 7.78e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000094351
SMART Domains Protein: ENSMUSP00000091911
Gene: ENSMUSG00000070533

DomainStartEndE-ValueType
low complexity region 54 65 N/A INTRINSIC
WAP 79 123 1.88e-2 SMART
KU 125 178 8.81e-25 SMART
WAP 182 226 8.82e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104483
Predicted Effect probably benign
Transcript: ENSMUST00000109338
SMART Domains Protein: ENSMUSP00000104962
Gene: ENSMUSG00000070533

DomainStartEndE-ValueType
low complexity region 54 65 N/A INTRINSIC
WAP 79 123 1.88e-2 SMART
KU 125 178 8.81e-25 SMART
WAP 182 226 8.82e-6 SMART
WAP 229 272 1.84e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109339
SMART Domains Protein: ENSMUSP00000104963
Gene: ENSMUSG00000070533

DomainStartEndE-ValueType
low complexity region 54 65 N/A INTRINSIC
WAP 79 123 1.88e-2 SMART
KU 125 178 8.81e-25 SMART
WAP 182 226 8.82e-6 SMART
low complexity region 300 313 N/A INTRINSIC
low complexity region 384 393 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (80/82)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T A 4: 62,457,109 (GRCm39) L143M possibly damaging Het
Abca13 T C 11: 9,259,013 (GRCm39) probably benign Het
Abcg5 T A 17: 84,978,575 (GRCm39) E294D probably benign Het
Adgrg6 T C 10: 14,342,930 (GRCm39) D339G probably damaging Het
Ahctf1 C A 1: 179,597,017 (GRCm39) R43L probably damaging Het
Ambn T A 5: 88,608,617 (GRCm39) probably benign Het
Arap3 A C 18: 38,106,403 (GRCm39) L1480R probably damaging Het
Arhgef10 A G 8: 14,984,820 (GRCm39) D200G probably damaging Het
Aspg G A 12: 112,087,608 (GRCm39) V8I probably benign Het
Aven T A 2: 112,455,541 (GRCm39) W26R probably damaging Het
Car4 T A 11: 84,854,911 (GRCm39) probably benign Het
Cd163 C T 6: 124,295,815 (GRCm39) R720C probably damaging Het
Cdh1 A G 8: 107,390,842 (GRCm39) I653V probably benign Het
Cdh3 A T 8: 107,279,520 (GRCm39) H712L probably damaging Het
Cdr2 T C 7: 120,581,250 (GRCm39) E9G probably damaging Het
Cfap47 T C X: 78,553,927 (GRCm39) I267V probably benign Het
Chrnb2 T C 3: 89,676,648 (GRCm39) probably benign Het
Col4a2 C A 8: 11,466,070 (GRCm39) P443Q probably damaging Het
Cyp2a12 A G 7: 26,736,071 (GRCm39) *493W probably null Het
Ddias T C 7: 92,507,464 (GRCm39) Q817R probably benign Het
Ddx6 C T 9: 44,535,816 (GRCm39) Q182* probably null Het
Dhrs7 A G 12: 72,699,951 (GRCm39) I227T probably damaging Het
Dhx8 A T 11: 101,653,071 (GRCm39) M970L probably damaging Het
Dnah7a A T 1: 53,536,101 (GRCm39) D2647E possibly damaging Het
Dstyk G A 1: 132,380,857 (GRCm39) G451R possibly damaging Het
Ednrb T A 14: 104,059,204 (GRCm39) D274V probably benign Het
Efl1 C T 7: 82,342,121 (GRCm39) R510C probably damaging Het
Eif4g3 A G 4: 137,912,053 (GRCm39) E1409G probably damaging Het
Fam78b G A 1: 166,906,278 (GRCm39) V146M probably damaging Het
Fcgbp T C 7: 27,791,444 (GRCm39) Y902H probably benign Het
Fgf18 A C 11: 33,068,003 (GRCm39) F129C probably damaging Het
Gbp9 T A 5: 105,242,409 (GRCm39) D110V probably damaging Het
Gm10477 A G X: 55,570,192 (GRCm39) K31E probably damaging Het
Gm10542 T A 18: 44,334,355 (GRCm39) W9R probably null Het
Gpaa1 A G 15: 76,217,552 (GRCm39) Y330C probably damaging Het
Hectd4 T C 5: 121,456,702 (GRCm39) L689P probably damaging Het
Hoxd3 C A 2: 74,574,578 (GRCm39) P75T possibly damaging Het
Ikbkb A G 8: 23,156,036 (GRCm39) L570P probably damaging Het
Ikbkb T C 8: 23,157,233 (GRCm39) probably benign Het
Il1rap A T 16: 26,529,315 (GRCm39) H379L probably damaging Het
Ints6l T A X: 55,550,228 (GRCm39) S718T probably benign Het
Jaml T A 9: 45,012,362 (GRCm39) I283N probably damaging Het
Kidins220 G A 12: 25,091,302 (GRCm39) probably null Het
Kif1b T C 4: 149,306,753 (GRCm39) D869G probably benign Het
Loxl2 T C 14: 69,929,859 (GRCm39) Y746H probably benign Het
Ltbr A G 6: 125,286,440 (GRCm39) S249P probably benign Het
Mageb5 A G X: 90,823,701 (GRCm39) I226T probably damaging Het
Msantd2 C T 9: 37,434,227 (GRCm39) R357W probably damaging Het
Mtcl2 T C 2: 156,875,245 (GRCm39) E835G probably damaging Het
Neb A G 2: 52,154,076 (GRCm39) F2345S probably damaging Het
Or7e173 T G 9: 19,938,797 (GRCm39) I146L probably benign Het
Pabpc4l T C 3: 46,401,276 (GRCm39) T123A probably benign Het
Plekhg4 TAGTCGATGCCCGAGTC TAGTC 8: 106,103,084 (GRCm39) probably benign Het
Prkdc T C 16: 15,537,297 (GRCm39) V1716A probably benign Het
Prss37 G A 6: 40,492,294 (GRCm39) R186* probably null Het
Psg20 T A 7: 18,414,947 (GRCm39) Y316F probably benign Het
Rasgrp2 T A 19: 6,454,425 (GRCm39) M156K probably benign Het
Rims1 T A 1: 22,474,732 (GRCm39) R200* probably null Het
Rnf168 T G 16: 32,097,036 (GRCm39) L37R probably damaging Het
Sall3 C T 18: 81,015,012 (GRCm39) G972D probably benign Het
Sap18 T A 14: 58,036,011 (GRCm39) S66T probably damaging Het
Scamp5 C A 9: 57,354,508 (GRCm39) V49F possibly damaging Het
Sdk1 C A 5: 142,170,943 (GRCm39) D1935E possibly damaging Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Syt16 T A 12: 74,285,009 (GRCm39) S401T probably damaging Het
Tas2r106 A T 6: 131,655,317 (GRCm39) L178H probably damaging Het
Tbcd A G 11: 121,494,146 (GRCm39) Y983C probably damaging Het
Tenm3 A G 8: 48,870,041 (GRCm39) probably null Het
Tll1 T C 8: 64,538,591 (GRCm39) E351G probably benign Het
Tmem44 T A 16: 30,366,262 (GRCm39) K55* probably null Het
Top2a T C 11: 98,895,054 (GRCm39) I849V probably benign Het
Ttn A G 2: 76,624,792 (GRCm39) V13516A probably damaging Het
Uxs1 A G 1: 43,814,006 (GRCm39) L77P probably damaging Het
Vmn2r121 A T X: 123,043,439 (GRCm39) probably null Het
Vmn2r84 A C 10: 130,227,100 (GRCm39) M246R probably damaging Het
Vps13b T A 15: 35,646,226 (GRCm39) N1443K probably benign Het
Zfp616 A G 11: 73,973,869 (GRCm39) probably null Het
Zmym1 T C 4: 126,943,363 (GRCm39) T244A probably benign Het
Other mutations in Wfdc6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02874:Wfdc6b APN 2 164,459,368 (GRCm39) critical splice donor site probably null
R0031:Wfdc6b UTSW 2 164,455,779 (GRCm39) missense probably damaging 1.00
R0975:Wfdc6b UTSW 2 164,455,705 (GRCm39) missense probably damaging 1.00
R2118:Wfdc6b UTSW 2 164,459,363 (GRCm39) missense probably benign 0.18
R3619:Wfdc6b UTSW 2 164,456,826 (GRCm39) missense probably benign 0.00
R4746:Wfdc6b UTSW 2 164,459,353 (GRCm39) nonsense probably null
R4846:Wfdc6b UTSW 2 164,459,214 (GRCm39) missense possibly damaging 0.53
R7749:Wfdc6b UTSW 2 164,459,339 (GRCm39) missense probably damaging 1.00
R7792:Wfdc6b UTSW 2 164,459,822 (GRCm39) missense probably damaging 0.98
R9200:Wfdc6b UTSW 2 164,455,708 (GRCm39) missense possibly damaging 0.72
Z1191:Wfdc6b UTSW 2 164,455,591 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GATATATGCAGTCTGCCCCAGG -3'
(R):5'- CTTCAGTGTGGTGACCATGG -3'

Sequencing Primer
(F):5'- AGTCTGCCCCAGGATGCTG -3'
(R):5'- GAGTTGCTCTGAGTGCTCCC -3'
Posted On 2014-09-17