Incidental Mutation 'R5777:Gm5134'
ID 446772
Institutional Source Beutler Lab
Gene Symbol Gm5134
Ensembl Gene ENSMUSG00000033255
Gene Name predicted gene 5134
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R5777 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 75790348-75845425 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 75840594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 479 (F479L)
Ref Sequence ENSEMBL: ENSMUSP00000097172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099577]
AlphaFold E9QAB5
Predicted Effect probably benign
Transcript: ENSMUST00000099577
AA Change: F479L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000097172
Gene: ENSMUSG00000033255
AA Change: F479L

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: ENSMUST00000184957
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrp T C 8: 106,294,000 (GRCm39) E41G probably benign Het
Amph A T 13: 19,230,186 (GRCm39) N45Y probably damaging Het
Atp11a T A 8: 12,882,522 (GRCm39) L470Q probably damaging Het
C130073F10Rik T A 4: 101,747,946 (GRCm39) Y76F possibly damaging Het
Casp12 A T 9: 5,354,548 (GRCm39) I306F probably benign Het
Cobll1 A T 2: 64,933,612 (GRCm39) M460K probably benign Het
Col6a4 A T 9: 105,890,895 (GRCm39) L1800I possibly damaging Het
Ctdsp1 T C 1: 74,433,227 (GRCm39) V131A probably damaging Het
Ctnna3 A G 10: 64,511,664 (GRCm39) H618R probably benign Het
Dhx38 C A 8: 110,283,534 (GRCm39) V538L possibly damaging Het
Dtwd1 A G 2: 126,001,733 (GRCm39) D151G probably damaging Het
Fbxw28 A G 9: 109,167,604 (GRCm39) L51P probably damaging Het
Gm4781 C T 10: 100,232,831 (GRCm39) noncoding transcript Het
H2bc27 A G 11: 58,839,835 (GRCm39) K24E probably benign Het
Hexa T G 9: 59,468,243 (GRCm39) V290G probably damaging Het
Ifi206 C T 1: 173,308,928 (GRCm39) R356K possibly damaging Het
Kcnj12 G A 11: 60,961,277 (GRCm39) R525Q possibly damaging Het
Lrp2 A T 2: 69,285,869 (GRCm39) I3774N probably damaging Het
Msh4 C A 3: 153,569,076 (GRCm39) M832I probably benign Het
Myh10 A G 11: 68,676,685 (GRCm39) E852G probably damaging Het
Ndufaf1 A T 2: 119,490,963 (GRCm39) C32* probably null Het
Nos2 A G 11: 78,830,978 (GRCm39) E387G probably null Het
Or4f58 C T 2: 111,851,876 (GRCm39) G108R probably damaging Het
Or55b10 A G 7: 102,143,178 (GRCm39) V268A probably benign Het
Or5h27 T A 16: 59,006,266 (GRCm39) L193F unknown Het
Or7a36 A C 10: 78,820,512 (GRCm39) D296A possibly damaging Het
Or7g29 A T 9: 19,287,014 (GRCm39) H54Q probably benign Het
Or8j3c A G 2: 86,253,669 (GRCm39) V117A probably benign Het
P3h3 T C 6: 124,832,921 (GRCm39) T211A probably benign Het
Pcdh7 A G 5: 57,876,856 (GRCm39) N137S probably damaging Het
Pgf T C 12: 85,216,148 (GRCm39) T157A possibly damaging Het
Prex1 T C 2: 166,428,579 (GRCm39) D714G probably damaging Het
Scn7a T C 2: 66,522,913 (GRCm39) I930M probably damaging Het
Siglecg T C 7: 43,058,837 (GRCm39) S197P possibly damaging Het
Skint7 T A 4: 111,845,289 (GRCm39) I367N probably benign Het
Slfn5 A T 11: 82,851,830 (GRCm39) D652V probably damaging Het
Stx1b G A 7: 127,410,090 (GRCm39) Q3* probably null Het
Tex35 T C 1: 156,934,777 (GRCm39) M46V probably benign Het
Tkt A C 14: 30,280,733 (GRCm39) T55P possibly damaging Het
Trim30c T C 7: 104,032,538 (GRCm39) R263G probably benign Het
U2af2 G A 7: 5,069,450 (GRCm39) R33Q probably benign Het
Washc4 T A 10: 83,391,469 (GRCm39) V182D probably damaging Het
Xirp2 T C 2: 67,340,348 (GRCm39) V863A possibly damaging Het
Zfp976 T G 7: 42,263,504 (GRCm39) H111P probably benign Het
Zfp982 A T 4: 147,595,321 (GRCm39) N48Y 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
R5601:Gm5134 UTSW 10 75,821,786 (GRCm39) missense probably damaging 0.98
R5627:Gm5134 UTSW 10 75,821,942 (GRCm39) missense possibly damaging 0.93
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'- TGTAAGGGACAGTACCACAGC -3'
(R):5'- CTCCTGACAGACTTACGTGG -3'

Sequencing Primer
(F):5'- GTCTGCAAGGTATCAATGTTCC -3'
(R):5'- CCTGACAGACTTACGTGGTGATC -3'
Posted On 2016-12-15