Incidental Mutation 'R5601:Gm5134'
ID 439029
Institutional Source Beutler Lab
Gene Symbol Gm5134
Ensembl Gene ENSMUSG00000033255
Gene Name predicted gene 5134
Synonyms
MMRRC Submission 043153-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R5601 (G1)
Quality Score 214
Status Not validated
Chromosome 10
Chromosomal Location 75790348-75845425 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 75821786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 207 (V207M)
Ref Sequence ENSEMBL: ENSMUSP00000097172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099577]
AlphaFold E9QAB5
Predicted Effect probably damaging
Transcript: ENSMUST00000099577
AA Change: V207M

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097172
Gene: ENSMUSG00000033255
AA Change: V207M

DomainStartEndE-ValueType
Pfam:SSF 32 466 2.9e-119 PFAM
transmembrane domain 500 522 N/A INTRINSIC
transmembrane domain 651 670 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134234
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 G A 13: 91,931,029 (GRCm39) V426I probably benign Het
Asmt T C X: 169,110,127 (GRCm39) V212A probably damaging Het
Atn1 A G 6: 124,720,191 (GRCm39) probably null Het
Auts2 G T 5: 131,505,662 (GRCm39) probably benign Het
AW551984 C T 9: 39,502,563 (GRCm39) V672M possibly damaging Het
Bltp3a C A 17: 28,103,468 (GRCm39) A392D probably damaging Het
Ccdc13 G A 9: 121,629,638 (GRCm39) Q114* probably null Het
Ces2e A T 8: 105,656,126 (GRCm39) I146F probably benign Het
Cfap44 A G 16: 44,280,549 (GRCm39) K1443E probably damaging Het
Cma2 T A 14: 56,211,246 (GRCm39) H179Q possibly damaging Het
Cpsf2 G T 12: 101,951,614 (GRCm39) probably null Het
Cwh43 A G 5: 73,575,283 (GRCm39) probably null Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Dram1 A G 10: 88,160,629 (GRCm39) S231P probably damaging Het
Fbxw7 A G 3: 84,883,515 (GRCm39) D482G probably damaging Het
Fstl1 T C 16: 37,647,161 (GRCm39) I177T probably benign Het
Fut9 T C 4: 25,620,299 (GRCm39) T172A probably benign Het
Hccs G A X: 168,096,597 (GRCm39) R203C probably damaging Het
Hmgxb3 A T 18: 61,270,694 (GRCm39) F877I probably damaging Het
Ide A G 19: 37,292,379 (GRCm39) V272A unknown Het
Impact C T 18: 13,109,064 (GRCm39) T65I probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Muc17 A G 5: 137,166,863 (GRCm39) S309P probably damaging Het
Myf6 A C 10: 107,330,475 (GRCm39) S31A probably damaging Het
Or4n4b C A 14: 50,536,318 (GRCm39) W149C probably damaging Het
Or8b35 C G 9: 37,904,010 (GRCm39) T74R possibly damaging Het
P4hb T A 11: 120,462,441 (GRCm39) E88D possibly damaging Het
Pcdhb9 T C 18: 37,535,259 (GRCm39) C418R probably damaging Het
Pramel51 T C 12: 88,142,817 (GRCm39) D267G probably damaging Het
Prdm4 TCTCCTCCT TCTCCT 10: 85,728,987 (GRCm39) probably null Het
Prss58 A T 6: 40,874,783 (GRCm39) N19K possibly damaging Het
Ptprq C T 10: 107,444,291 (GRCm39) A1438T probably benign Het
Rfx4 A T 10: 84,634,442 (GRCm39) T61S probably damaging Het
Sclt1 T A 3: 41,685,354 (GRCm39) N35Y probably benign Het
Sec24b CTG CTGGTG 3: 129,834,483 (GRCm39) probably benign Het
Serpinb12 T C 1: 106,881,427 (GRCm39) I188T probably damaging Het
Slc27a4 A T 2: 29,695,672 (GRCm39) Y69F probably benign Het
Slc3a1 T C 17: 85,340,319 (GRCm39) V247A probably benign Het
Slc4a2 C T 5: 24,643,772 (GRCm39) T854I probably benign Het
Stat5b G A 11: 100,674,001 (GRCm39) T761M probably damaging Het
Stkld1 T C 2: 26,842,717 (GRCm39) L563P probably damaging Het
Tbc1d23 C A 16: 57,018,672 (GRCm39) C283F probably benign Het
Tcaf3 T C 6: 42,564,462 (GRCm39) N900S possibly damaging Het
Tkfc T C 19: 10,571,927 (GRCm39) T370A probably benign Het
Tpr T C 1: 150,311,604 (GRCm39) V1868A possibly damaging Het
Triobp T A 15: 78,857,833 (GRCm39) W1145R probably damaging Het
Vmn2r82 T G 10: 79,232,025 (GRCm39) L675V probably damaging Het
Zfp423 T C 8: 88,508,637 (GRCm39) E444G probably damaging Het
Other mutations in Gm5134
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00941:Gm5134 APN 10 75,836,255 (GRCm39) missense possibly damaging 0.70
IGL01371:Gm5134 APN 10 75,840,581 (GRCm39) missense probably damaging 0.99
IGL02140:Gm5134 APN 10 75,821,945 (GRCm39) missense probably benign 0.03
IGL02197:Gm5134 APN 10 75,790,536 (GRCm39) critical splice donor site probably null
IGL02233:Gm5134 APN 10 75,844,334 (GRCm39) critical splice acceptor site probably null
IGL02612:Gm5134 APN 10 75,828,323 (GRCm39) missense probably damaging 1.00
IGL02896:Gm5134 APN 10 75,810,058 (GRCm39) missense possibly damaging 0.82
R0021:Gm5134 UTSW 10 75,829,718 (GRCm39) missense probably damaging 1.00
R0021:Gm5134 UTSW 10 75,829,718 (GRCm39) missense probably damaging 1.00
R0035:Gm5134 UTSW 10 75,829,698 (GRCm39) missense probably benign 0.01
R0035:Gm5134 UTSW 10 75,829,698 (GRCm39) missense probably benign 0.01
R0110:Gm5134 UTSW 10 75,810,079 (GRCm39) missense probably benign 0.03
R0499:Gm5134 UTSW 10 75,828,359 (GRCm39) missense probably benign 0.00
R0510:Gm5134 UTSW 10 75,810,079 (GRCm39) missense probably benign 0.03
R1429:Gm5134 UTSW 10 75,814,215 (GRCm39) missense probably damaging 1.00
R1726:Gm5134 UTSW 10 75,828,361 (GRCm39) missense possibly damaging 0.83
R1918:Gm5134 UTSW 10 75,812,180 (GRCm39) missense possibly damaging 0.70
R1956:Gm5134 UTSW 10 75,840,680 (GRCm39) missense possibly damaging 0.89
R1993:Gm5134 UTSW 10 75,802,227 (GRCm39) missense probably damaging 0.96
R2049:Gm5134 UTSW 10 75,840,718 (GRCm39) missense possibly damaging 0.92
R2188:Gm5134 UTSW 10 75,831,670 (GRCm39) missense probably damaging 1.00
R3551:Gm5134 UTSW 10 75,836,281 (GRCm39) missense probably benign 0.08
R4074:Gm5134 UTSW 10 75,844,365 (GRCm39) missense probably damaging 1.00
R4435:Gm5134 UTSW 10 75,831,658 (GRCm39) missense probably damaging 1.00
R4466:Gm5134 UTSW 10 75,844,409 (GRCm39) missense probably benign 0.00
R5180:Gm5134 UTSW 10 75,812,200 (GRCm39) missense probably damaging 1.00
R5446:Gm5134 UTSW 10 75,831,670 (GRCm39) missense probably damaging 1.00
R5627:Gm5134 UTSW 10 75,821,942 (GRCm39) missense possibly damaging 0.93
R5777:Gm5134 UTSW 10 75,840,594 (GRCm39) missense probably benign 0.00
R5867:Gm5134 UTSW 10 75,844,450 (GRCm39) missense probably benign 0.00
R6145:Gm5134 UTSW 10 75,831,673 (GRCm39) missense probably damaging 0.99
R6232:Gm5134 UTSW 10 75,821,859 (GRCm39) missense possibly damaging 0.95
R6271:Gm5134 UTSW 10 75,831,643 (GRCm39) missense probably benign 0.32
R6329:Gm5134 UTSW 10 75,790,494 (GRCm39) missense possibly damaging 0.68
R6723:Gm5134 UTSW 10 75,844,453 (GRCm39) missense probably benign
R7049:Gm5134 UTSW 10 75,828,292 (GRCm39) missense probably damaging 0.97
R7305:Gm5134 UTSW 10 75,836,233 (GRCm39) missense probably damaging 1.00
R7579:Gm5134 UTSW 10 75,800,271 (GRCm39) missense probably damaging 1.00
R9190:Gm5134 UTSW 10 75,844,645 (GRCm39) missense probably damaging 1.00
R9716:Gm5134 UTSW 10 75,821,943 (GRCm39) missense probably benign 0.27
R9718:Gm5134 UTSW 10 75,828,331 (GRCm39) missense possibly damaging 0.90
X0050:Gm5134 UTSW 10 75,828,344 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGTGGAAGAGCTAGTCTTTCC -3'
(R):5'- ATTACCTGATCGGCACACCC -3'

Sequencing Primer
(F):5'- CATGATGCCTTGATCATATGCTAC -3'
(R):5'- GGCACACCCGTAGAACAGAG -3'
Posted On 2016-10-26