Incidental Mutation 'R7950:Gm5624'
ID649518
Institutional Source Beutler Lab
Gene Symbol Gm5624
Ensembl Gene ENSMUSG00000092165
Gene Namepredicted gene 5624
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.151) question?
Stock #R7950 (G1)
Quality Score225.009
Status Not validated
Chromosome14
Chromosomal Location44556795-44627938 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 44560733 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 139 (Y139H)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178184] [ENSMUST00000227882] [ENSMUST00000228629]
Predicted Effect
SMART Domains Protein: ENSMUSP00000126636
Gene: ENSMUSG00000092165
AA Change: Y139H

DomainStartEndE-ValueType
Pfam:Takusan 57 137 1.2e-27 PFAM
coiled coil region 152 185 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000178184
AA Change: Y96H

PolyPhen 2 Score 0.475 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000136815
Gene: ENSMUSG00000092165
AA Change: Y96H

DomainStartEndE-ValueType
Pfam:Takusan 13 93 2.2e-27 PFAM
coiled coil region 109 142 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000227882
AA Change: Y95H

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000228629
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (47/47)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810043G02Rik C T 10: 77,979,767 T31I probably damaging Het
Adgrf5 G A 17: 43,451,157 V1248M probably damaging Het
Alb T C 5: 90,472,464 S478P probably damaging Het
Arhgap17 A G 7: 123,286,816 S698P probably benign Het
Arhgef5 A G 6: 43,273,925 T537A possibly damaging Het
Arl6 A T 16: 59,618,731 probably null Het
Atp13a4 A T 16: 29,449,917 W540R Het
Birc6 A T 17: 74,593,100 D1091V probably damaging Het
Bnc1 A G 7: 81,973,502 V659A probably benign Het
C130074G19Rik T C 1: 184,874,374 probably null Het
C1ql4 T A 15: 99,084,812 H220L probably benign Het
Cacna1s A G 1: 136,100,625 N1147S probably benign Het
Cc2d2a T C 5: 43,695,296 probably null Het
Ccdc36 T C 9: 108,405,671 T273A probably benign Het
Ccl1 T A 11: 82,179,693 I18L probably benign Het
Ecel1 A T 1: 87,148,269 Y729N probably damaging Het
Epha4 T A 1: 77,507,196 I59F probably damaging Het
Filip1l A G 16: 57,569,711 K221E probably damaging Het
Flnc A G 6: 29,456,382 E2193G possibly damaging Het
Galnt10 C G 11: 57,783,723 P513A probably damaging Het
Golgb1 A C 16: 36,915,424 I1719L probably benign Het
Hsf1 T C 15: 76,498,193 S255P probably benign Het
Ighv2-2 T C 12: 113,588,294 D108G probably damaging Het
Kbtbd3 C T 9: 4,316,878 Q10* probably null Het
Kcnh2 C T 5: 24,333,036 V110M probably benign Het
Magi3 A C 3: 104,016,689 L1112W probably damaging Het
Malrd1 T A 2: 16,128,068 D1933E unknown Het
Mki67 G A 7: 135,699,724 R1194* probably null Het
Nap1l1 T C 10: 111,492,908 Y233H probably damaging Het
Napsa A G 7: 44,585,334 I298V probably benign Het
Nkx6-1 A T 5: 101,663,599 S212R probably damaging Het
Nlrc4 A T 17: 74,445,615 I591N probably damaging Het
Olfr1468-ps1 T C 19: 13,375,067 I35T possibly damaging Het
Orc2 T C 1: 58,467,668 D503G possibly damaging Het
Osbp T A 19: 11,978,248 S343T probably benign Het
Pcdha6 T G 18: 36,969,426 D557E probably damaging Het
Pdcd11 AGAGGAGGAGGAGGAGGAGGAGGAG AGAGGAGGAGGAGGAGGAGGAG 19: 47,113,437 probably benign Het
Ppdpf A G 2: 181,187,857 Y35C probably benign Het
Scrn2 T A 11: 97,030,929 L75Q probably damaging Het
Scube3 G A 17: 28,171,226 V955I probably benign Het
Slc1a1 T C 19: 28,911,761 V478A probably benign Het
Slc4a4 A G 5: 89,058,278 probably null Het
Srrm2 T C 17: 23,808,110 L96P unknown Het
Strn A T 17: 78,670,423 L175Q Het
Other mutations in Gm5624
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02502:Gm5624 APN 14 44559839 critical splice donor site probably null
IGL02682:Gm5624 APN 14 44560012 missense possibly damaging 0.86
IGL03145:Gm5624 APN 14 44560765 missense possibly damaging 0.50
IGL03212:Gm5624 APN 14 44560710 missense probably benign 0.01
R1800:Gm5624 UTSW 14 44561845 missense probably damaging 1.00
R6136:Gm5624 UTSW 14 44559876 missense probably benign 0.17
R6727:Gm5624 UTSW 14 44561875 missense possibly damaging 0.52
R7512:Gm5624 UTSW 14 44561855 missense
R7662:Gm5624 UTSW 14 44561933 missense possibly damaging 0.94
R8411:Gm5624 UTSW 14 44561890 missense
R8413:Gm5624 UTSW 14 44561890 missense
Predicted Primers PCR Primer
(F):5'- TCACACTTCGGTAACCTGAGTC -3'
(R):5'- GCAAGGATGTGGCATACAATTTTC -3'

Sequencing Primer
(F):5'- CACTTCGGTAACCTGAGTCTAAGAG -3'
(R):5'- GGGAATTCCAGATACAGCCTTTTTGC -3'
Posted On2020-09-15