Incidental Mutation 'R0445:C87436'
ID 39312
Institutional Source Beutler Lab
Gene Symbol C87436
Ensembl Gene ENSMUSG00000046679
Gene Name expressed sequence C87436
Synonyms
MMRRC Submission 038646-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.319) question?
Stock # R0445 (G1)
Quality Score 215
Status Validated
Chromosome 6
Chromosomal Location 86415356-86450482 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86426832 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 332 (S332T)
Ref Sequence ENSEMBL: ENSMUSP00000109328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050497] [ENSMUST00000113698] [ENSMUST00000113700] [ENSMUST00000133753] [ENSMUST00000141972] [ENSMUST00000203568] [ENSMUST00000204137]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000050497
AA Change: S342T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000057461
Gene: ENSMUSG00000046679
AA Change: S342T

DomainStartEndE-ValueType
Pfam:zf-tcix 15 58 1.1e-22 PFAM
low complexity region 288 300 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000113698
AA Change: S332T

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000109328
Gene: ENSMUSG00000046679
AA Change: S332T

DomainStartEndE-ValueType
Pfam:zf-tcix 15 58 1e-22 PFAM
low complexity region 278 290 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113700
AA Change: S342T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109330
Gene: ENSMUSG00000046679
AA Change: S342T

DomainStartEndE-ValueType
Pfam:zf-tcix 16 57 1.3e-22 PFAM
low complexity region 288 300 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133753
AA Change: S342T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121520
Gene: ENSMUSG00000046679
AA Change: S342T

DomainStartEndE-ValueType
Pfam:zf-tcix 15 58 6.2e-23 PFAM
low complexity region 288 300 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141972
AA Change: S342T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115916
Gene: ENSMUSG00000046679
AA Change: S342T

DomainStartEndE-ValueType
Pfam:zf-tcix 15 58 6.2e-23 PFAM
low complexity region 288 300 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203568
SMART Domains Protein: ENSMUSP00000144724
Gene: ENSMUSG00000046679

DomainStartEndE-ValueType
Pfam:zf-tcix 16 57 3.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204137
Meta Mutation Damage Score 0.0806 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.3%
Validation Efficiency 100% (77/77)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik A C 17: 48,400,542 (GRCm39) probably null Het
A2m C T 6: 121,634,914 (GRCm39) T687I probably damaging Het
Acsbg1 A G 9: 54,523,179 (GRCm39) S483P probably damaging Het
Adam22 T A 5: 8,230,591 (GRCm39) probably benign Het
Aggf1 A G 13: 95,490,509 (GRCm39) V595A possibly damaging Het
Aplf A T 6: 87,640,734 (GRCm39) L71I probably damaging Het
Arid3c G T 4: 41,725,172 (GRCm39) P292T probably benign Het
Bltp1 T C 3: 37,054,214 (GRCm39) V3111A probably damaging Het
Brms1l T A 12: 55,908,191 (GRCm39) Y213* probably null Het
Cad G A 5: 31,230,053 (GRCm39) A1454T probably benign Het
Cdkn3 T C 14: 47,004,857 (GRCm39) probably null Het
Cnot1 A G 8: 96,486,836 (GRCm39) C624R probably damaging Het
Cntnap5c A T 17: 58,411,738 (GRCm39) I541F probably benign Het
Dennd1b A G 1: 139,095,503 (GRCm39) probably benign Het
Dscam A T 16: 96,573,703 (GRCm39) I753N probably damaging Het
Eef2 C CN 10: 81,014,604 (GRCm39) probably null Het
Epg5 T A 18: 78,057,399 (GRCm39) V1826D possibly damaging Het
Epha8 T C 4: 136,659,711 (GRCm39) Y755C probably damaging Het
Esco1 A T 18: 10,574,989 (GRCm39) N694K probably damaging Het
Fermt3 T C 19: 6,980,667 (GRCm39) H300R probably benign Het
Galnt5 C A 2: 57,888,962 (GRCm39) F187L probably benign Het
Gm17067 A G 7: 42,358,046 (GRCm39) I152T probably benign Het
Gnb3 T C 6: 124,814,218 (GRCm39) D154G possibly damaging Het
Gpr155 G A 2: 73,200,488 (GRCm39) probably benign Het
Hdac3 A G 18: 38,076,777 (GRCm39) I240T probably damaging Het
Ifitm1 A T 7: 140,548,354 (GRCm39) probably null Het
Kif1b A T 4: 149,272,466 (GRCm39) L1455Q probably benign Het
Krt1 A C 15: 101,756,056 (GRCm39) L388R probably damaging Het
Lrp1 T A 10: 127,426,505 (GRCm39) K635* probably null Het
Map3k2 A G 18: 32,350,263 (GRCm39) Y371C probably damaging Het
Mcu T C 10: 59,292,467 (GRCm39) probably benign Het
Mkrn1 C T 6: 39,381,788 (GRCm39) V167I probably benign Het
Mrpl9 T A 3: 94,352,198 (GRCm39) probably benign Het
Naip2 T C 13: 100,298,395 (GRCm39) Y547C possibly damaging Het
Nup88 G A 11: 70,838,555 (GRCm39) T487I probably benign Het
Oas3 G A 5: 120,894,210 (GRCm39) R39C probably damaging Het
Obscn C T 11: 58,890,161 (GRCm39) R7457H unknown Het
Or13c25 G A 4: 52,910,849 (GRCm39) T315M probably benign Het
Or2y13 T A 11: 49,414,784 (GRCm39) V78E probably damaging Het
Paf1 T C 7: 28,095,113 (GRCm39) S118P probably damaging Het
Parp4 T A 14: 56,840,205 (GRCm39) probably null Het
Pcdh15 A T 10: 74,178,381 (GRCm39) Y157F probably damaging Het
Pex10 G A 4: 155,153,531 (GRCm39) probably null Het
Phrf1 C T 7: 140,827,244 (GRCm39) probably benign Het
Polr3a G T 14: 24,504,989 (GRCm39) D1090E probably benign Het
Ppfia4 A C 1: 134,255,027 (GRCm39) L276R probably benign Het
Rdh16f1 T C 10: 127,626,736 (GRCm39) L263S probably benign Het
Ryr3 T C 2: 112,696,399 (GRCm39) D967G probably benign Het
Shc1 G T 3: 89,333,844 (GRCm39) A226S probably damaging Het
Slc4a1 A G 11: 102,245,192 (GRCm39) V585A probably benign Het
Stk38l T A 6: 146,677,184 (GRCm39) S461T probably benign Het
Tbkbp1 A T 11: 97,040,295 (GRCm39) S40T probably damaging Het
Tet1 A G 10: 62,715,720 (GRCm39) M25T probably benign Het
Themis A G 10: 28,658,007 (GRCm39) R192G probably damaging Het
Tmem144 T C 3: 79,732,661 (GRCm39) T206A probably benign Het
Tmem74b G A 2: 151,548,879 (GRCm39) R202H probably damaging Het
Trpm1 T C 7: 63,894,590 (GRCm39) probably benign Het
Vars1 A G 17: 35,230,785 (GRCm39) H557R probably benign Het
Zbtb12 C A 17: 35,115,277 (GRCm39) A354E possibly damaging Het
Zfp143 A T 7: 109,660,324 (GRCm39) probably benign Het
Zftraf1 T C 15: 76,532,457 (GRCm39) H217R probably damaging Het
Other mutations in C87436
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01314:C87436 APN 6 86,434,837 (GRCm39) missense probably damaging 1.00
IGL01596:C87436 APN 6 86,423,201 (GRCm39) missense probably damaging 1.00
IGL02039:C87436 APN 6 86,430,677 (GRCm39) missense probably benign 0.40
IGL02798:C87436 APN 6 86,423,184 (GRCm39) missense probably benign 0.01
R0008:C87436 UTSW 6 86,423,265 (GRCm39) unclassified probably benign
R0128:C87436 UTSW 6 86,446,809 (GRCm39) missense probably damaging 1.00
R0970:C87436 UTSW 6 86,424,310 (GRCm39) missense probably damaging 0.99
R1125:C87436 UTSW 6 86,424,344 (GRCm39) missense probably benign 0.00
R1310:C87436 UTSW 6 86,422,432 (GRCm39) missense possibly damaging 0.78
R1640:C87436 UTSW 6 86,423,233 (GRCm39) missense probably damaging 0.99
R1764:C87436 UTSW 6 86,430,594 (GRCm39) missense possibly damaging 0.92
R2213:C87436 UTSW 6 86,422,455 (GRCm39) missense probably benign 0.04
R2275:C87436 UTSW 6 86,422,582 (GRCm39) missense probably damaging 1.00
R3947:C87436 UTSW 6 86,423,168 (GRCm39) missense probably damaging 1.00
R5416:C87436 UTSW 6 86,442,832 (GRCm39) missense probably damaging 1.00
R5604:C87436 UTSW 6 86,424,337 (GRCm39) missense probably benign 0.01
R5982:C87436 UTSW 6 86,422,957 (GRCm39) missense possibly damaging 0.87
R6171:C87436 UTSW 6 86,422,449 (GRCm39) missense probably benign 0.04
R6744:C87436 UTSW 6 86,423,046 (GRCm39) missense probably damaging 1.00
R7215:C87436 UTSW 6 86,439,662 (GRCm39) missense possibly damaging 0.80
R7253:C87436 UTSW 6 86,442,790 (GRCm39) missense probably damaging 1.00
R7876:C87436 UTSW 6 86,423,411 (GRCm39) splice site probably null
R8035:C87436 UTSW 6 86,424,337 (GRCm39) missense probably benign 0.01
R8312:C87436 UTSW 6 86,434,813 (GRCm39) missense probably damaging 1.00
R8919:C87436 UTSW 6 86,422,774 (GRCm39) missense probably damaging 1.00
R9091:C87436 UTSW 6 86,442,813 (GRCm39) missense probably benign 0.00
R9099:C87436 UTSW 6 86,439,567 (GRCm39) missense probably damaging 1.00
R9208:C87436 UTSW 6 86,423,227 (GRCm39) missense probably benign 0.16
R9270:C87436 UTSW 6 86,442,813 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TACCTCCCATCTGCTAGATCACAGGC -3'
(R):5'- AGCATAACTCTGAGCAGGATTTGAACC -3'

Sequencing Primer
(F):5'- gtattccacctccactgcc -3'
(R):5'- CTAGGGGAACAGGAGAGACC -3'
Posted On 2013-05-23