Incidental Mutation 'R0667:Gm5901'
ID62061
Institutional Source Beutler Lab
Gene Symbol Gm5901
Ensembl Gene ENSMUSG00000078611
Gene Namepredicted gene 5901
Synonyms
MMRRC Submission 038852-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.098) question?
Stock #R0667 (G1)
Quality Score81
Status Validated
Chromosome7
Chromosomal Location105375038-105378377 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 105377490 bp
ZygosityHeterozygous
Amino Acid Change Serine to Asparagine at position 155 (S155N)
Ref Sequence ENSEMBL: ENSMUSP00000102417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048079] [ENSMUST00000074686] [ENSMUST00000106805] [ENSMUST00000118726] [ENSMUST00000122327] [ENSMUST00000137158] [ENSMUST00000179474] [ENSMUST00000209233] [ENSMUST00000210448] [ENSMUST00000211549]
Predicted Effect probably benign
Transcript: ENSMUST00000048079
SMART Domains Protein: ENSMUSP00000045084
Gene: ENSMUSG00000044465

DomainStartEndE-ValueType
Pfam:RAI16-like 96 426 2.8e-99 PFAM
low complexity region 482 501 N/A INTRINSIC
low complexity region 527 544 N/A INTRINSIC
low complexity region 697 710 N/A INTRINSIC
low complexity region 718 730 N/A INTRINSIC
low complexity region 891 906 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000074686
SMART Domains Protein: ENSMUSP00000074252
Gene: ENSMUSG00000044465

DomainStartEndE-ValueType
Pfam:RAI16-like 96 426 4.4e-100 PFAM
low complexity region 482 501 N/A INTRINSIC
low complexity region 527 544 N/A INTRINSIC
low complexity region 697 710 N/A INTRINSIC
low complexity region 718 730 N/A INTRINSIC
low complexity region 825 840 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000106805
AA Change: S155N

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102417
Gene: ENSMUSG00000078611
AA Change: S155N

DomainStartEndE-ValueType
Pfam:DUF4663 1 332 1.8e-145 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118726
SMART Domains Protein: ENSMUSP00000112605
Gene: ENSMUSG00000044465

DomainStartEndE-ValueType
Pfam:RAI16-like 96 426 1.8e-99 PFAM
low complexity region 496 515 N/A INTRINSIC
low complexity region 541 558 N/A INTRINSIC
low complexity region 707 722 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122327
SMART Domains Protein: ENSMUSP00000112711
Gene: ENSMUSG00000044465

DomainStartEndE-ValueType
Pfam:RAI16-like 96 426 5.6e-98 PFAM
low complexity region 482 501 N/A INTRINSIC
low complexity region 527 544 N/A INTRINSIC
low complexity region 697 710 N/A INTRINSIC
low complexity region 718 730 N/A INTRINSIC
low complexity region 891 906 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137158
SMART Domains Protein: ENSMUSP00000119184
Gene: ENSMUSG00000044465

DomainStartEndE-ValueType
Pfam:RAI16-like 96 259 7.2e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142559
Predicted Effect probably benign
Transcript: ENSMUST00000179474
SMART Domains Protein: ENSMUSP00000137163
Gene: ENSMUSG00000044465

DomainStartEndE-ValueType
Pfam:RAI16-like 96 426 4.2e-98 PFAM
low complexity region 496 515 N/A INTRINSIC
low complexity region 541 558 N/A INTRINSIC
low complexity region 711 724 N/A INTRINSIC
low complexity region 732 744 N/A INTRINSIC
low complexity region 905 920 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209233
Predicted Effect probably benign
Transcript: ENSMUST00000210448
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210972
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211523
Predicted Effect probably benign
Transcript: ENSMUST00000211549
Meta Mutation Damage Score 0.0725 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 98% (64/65)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik C G 7: 140,261,537 S251R possibly damaging Het
Abca5 G T 11: 110,327,811 N76K probably benign Het
Adamts12 C T 15: 11,215,624 R244C probably damaging Het
Atad2 A G 15: 58,098,719 S1143P probably benign Het
Avl9 G T 6: 56,736,483 R242L probably benign Het
Cand1 A G 10: 119,216,520 S234P probably benign Het
Cd200 T A 16: 45,394,857 I144L probably benign Het
Cep76 A T 18: 67,634,778 L228Q possibly damaging Het
Col12a1 A G 9: 79,628,462 L2584S probably damaging Het
Col6a3 A C 1: 90,828,101 D155E probably damaging Het
Col6a4 G A 9: 106,029,959 probably benign Het
Dsg2 A C 18: 20,573,499 D24A possibly damaging Het
Hkdc1 T C 10: 62,411,865 probably benign Het
Kansl1 A G 11: 104,343,538 V714A probably benign Het
Kcnh1 T A 1: 192,506,038 S936T probably benign Het
Klhdc3 A T 17: 46,677,225 F205I probably benign Het
Krt31 T A 11: 100,048,125 H290L probably benign Het
Lama2 T A 10: 27,344,410 probably null Het
Mep1a T G 17: 43,478,190 D565A probably benign Het
Mgme1 T A 2: 144,278,987 probably benign Het
Mtf2 C T 5: 108,104,503 T409I probably damaging Het
Mylk3 A G 8: 85,355,165 probably null Het
Myo1c A G 11: 75,668,512 E650G probably damaging Het
Nipbl A C 15: 8,361,004 D260E possibly damaging Het
Nufip2 T A 11: 77,692,013 V251D possibly damaging Het
Olfr1239 T C 2: 89,417,688 I242V probably benign Het
Olfr138 C A 17: 38,275,157 P129T probably damaging Het
Olfr855 T A 9: 19,585,447 N303K probably benign Het
Osm G T 11: 4,239,918 R234L possibly damaging Het
Pabpc1 G A 15: 36,598,031 A515V probably benign Het
Piwil1 T A 5: 128,741,478 probably null Het
Pld1 A G 3: 28,079,178 probably null Het
Plekhg3 C T 12: 76,576,598 R871C probably damaging Het
Ppfia2 A T 10: 106,913,694 Y1147F probably damaging Het
Prmt3 A G 7: 49,791,995 Y240C probably damaging Het
Prr36 G T 8: 4,216,311 probably benign Het
Ptprd A G 4: 75,957,346 I908T probably damaging Het
Sae1 A T 7: 16,368,532 N172K probably damaging Het
Satb1 T G 17: 51,782,861 Q319H probably damaging Het
Scn2a A T 2: 65,751,996 I1563F possibly damaging Het
Scn3a C A 2: 65,484,411 R1102L probably null Het
Serpinb9b T A 13: 33,032,926 L60* probably null Het
Setd1a A G 7: 127,786,593 D281G probably damaging Het
Slc8a1 C A 17: 81,648,881 V243F probably damaging Het
Tgfbr3 A T 5: 107,177,850 H115Q probably benign Het
Tiam1 C A 16: 89,897,984 S195I probably damaging Het
Tjp2 A G 19: 24,108,749 V803A probably benign Het
Ttc5 T A 14: 50,765,958 Q423L probably benign Het
Tyk2 A C 9: 21,108,871 V997G probably damaging Het
Uhrf1 T C 17: 56,310,677 V133A probably benign Het
Vmn2r107 A C 17: 20,355,654 Y82S possibly damaging Het
Vmn2r93 T C 17: 18,326,241 F792L probably damaging Het
Vps13c G A 9: 67,951,573 W2768* probably null Het
Zfp456 A T 13: 67,366,742 C282S probably benign Het
Zhx1 T C 15: 58,053,165 N562D possibly damaging Het
Zmynd15 G T 11: 70,465,118 G481C probably damaging Het
Other mutations in Gm5901
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01563:Gm5901 APN 7 105377515 nonsense probably null
IGL01668:Gm5901 APN 7 105377564 missense probably benign 0.00
P0033:Gm5901 UTSW 7 105377505 missense probably damaging 1.00
R0316:Gm5901 UTSW 7 105377315 missense probably damaging 1.00
R2393:Gm5901 UTSW 7 105377789 missense possibly damaging 0.72
R2987:Gm5901 UTSW 7 105377300 missense probably benign
R4665:Gm5901 UTSW 7 105377231 missense possibly damaging 0.50
R5103:Gm5901 UTSW 7 105377382 unclassified probably null
R5274:Gm5901 UTSW 7 105377448 missense probably damaging 0.99
R5613:Gm5901 UTSW 7 105377325 missense probably damaging 1.00
R6977:Gm5901 UTSW 7 105377160 missense probably benign
R7090:Gm5901 UTSW 7 105377348 missense probably benign
R7128:Gm5901 UTSW 7 105378201 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GCCGAGACAGCCTATGAAGAAATGC -3'
(R):5'- TCGACCCTTATGGGAGAATCTGGTG -3'

Sequencing Primer
(F):5'- CAGCCTATGAAGAAATGCGAATG -3'
(R):5'- GCAACTTCATGGGTATCAGC -3'
Posted On2013-07-30