Incidental Mutation 'R9242:D17H6S53E'
ID 701066
Institutional Source Beutler Lab
Gene Symbol D17H6S53E
Ensembl Gene ENSMUSG00000043311
Gene Name DNA segment, Chr 17, human D6S53E
Synonyms NG34
MMRRC Submission 068988-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R9242 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 35345378-35347831 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 35346536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 149 (R149L)
Ref Sequence ENSEMBL: ENSMUSP00000061264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025249] [ENSMUST00000052167] [ENSMUST00000061859] [ENSMUST00000165306] [ENSMUST00000173043] [ENSMUST00000173380]
AlphaFold Q9Z1R4
Predicted Effect probably benign
Transcript: ENSMUST00000025249
SMART Domains Protein: ENSMUSP00000025249
Gene: ENSMUSG00000024391

DomainStartEndE-ValueType
Pfam:ApoM 1 189 9.2e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000052167
SMART Domains Protein: ENSMUSP00000056646
Gene: ENSMUSG00000092417

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 82 99 N/A INTRINSIC
ANK 156 186 4.36e-1 SMART
G_patch 269 315 1.45e-14 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000061859
AA Change: R149L

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000061264
Gene: ENSMUSG00000043311
AA Change: R149L

DomainStartEndE-ValueType
Pfam:DUF4661 16 264 8.3e-141 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165306
SMART Domains Protein: ENSMUSP00000133240
Gene: ENSMUSG00000092417

DomainStartEndE-ValueType
low complexity region 59 76 N/A INTRINSIC
ANK 133 163 4.36e-1 SMART
G_patch 246 292 1.45e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173043
SMART Domains Protein: ENSMUSP00000135684
Gene: ENSMUSG00000092417

DomainStartEndE-ValueType
low complexity region 59 76 N/A INTRINSIC
ANK 133 163 2.7e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173380
SMART Domains Protein: ENSMUSP00000134694
Gene: ENSMUSG00000092417

DomainStartEndE-ValueType
low complexity region 59 76 N/A INTRINSIC
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (49/49)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 C A 5: 8,949,677 (GRCm39) T79K probably damaging Het
Ackr3 G T 1: 90,142,558 (GRCm39) G339V probably damaging Het
Agpat4 G T 17: 12,429,186 (GRCm39) R146L probably damaging Het
Ampd1 C T 3: 102,998,936 (GRCm39) R364C probably damaging Het
Atrnl1 A G 19: 57,645,660 (GRCm39) T507A probably benign Het
Cand2 C G 6: 115,768,923 (GRCm39) R578G probably benign Het
Capg C T 6: 72,532,869 (GRCm39) P111L probably damaging Het
Carm1 C T 9: 21,494,350 (GRCm39) T289I probably damaging Het
Ccr6 A G 17: 8,474,965 (GRCm39) I57V probably benign Het
Cdk5rap2 T C 4: 70,255,583 (GRCm39) I434V possibly damaging Het
Chrdl2 C T 7: 99,655,743 (GRCm39) probably benign Het
Cntnap5a A G 1: 116,220,109 (GRCm39) T640A probably benign Het
Ctsd T C 7: 141,937,280 (GRCm39) probably null Het
Dync1i1 A G 6: 5,769,706 (GRCm39) T77A probably benign Het
Emc2 T C 15: 43,358,639 (GRCm39) M100T probably benign Het
Esrra A G 19: 6,889,863 (GRCm39) V290A probably benign Het
Fbl T C 7: 27,876,620 (GRCm39) I207T probably benign Het
Fktn G A 4: 53,734,854 (GRCm39) G125D probably benign Het
Gcc1 T A 6: 28,420,375 (GRCm39) N314I possibly damaging Het
Gzmm A T 10: 79,530,354 (GRCm39) D175V probably damaging Het
Heatr1 G A 13: 12,448,806 (GRCm39) M1840I probably benign Het
Helz T C 11: 107,523,153 (GRCm39) L779P probably damaging Het
Impg1 T A 9: 80,289,064 (GRCm39) N331I probably damaging Het
Inmt C T 6: 55,150,270 (GRCm39) probably null Het
Inpp5a C T 7: 139,061,634 (GRCm39) T102M probably damaging Het
Lamc3 A G 2: 31,788,323 (GRCm39) Y161C probably benign Het
Lpin2 A G 17: 71,553,966 (GRCm39) *932W probably null Het
Lrp3 C T 7: 34,901,934 (GRCm39) R649H probably benign Het
Madd G A 2: 90,973,949 (GRCm39) T1464I probably damaging Het
Nceh1 C A 3: 27,293,777 (GRCm39) Y178* probably null Het
Or5ae2 A T 7: 84,506,086 (GRCm39) K172* probably null Het
Or5b96 T A 19: 12,867,989 (GRCm39) probably benign Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Ptchd4 A T 17: 42,627,604 (GRCm39) R22* probably null Het
Ptpru C T 4: 131,530,341 (GRCm39) G560S probably damaging Het
Ralgapb G T 2: 158,277,386 (GRCm39) R250L probably benign Het
Rcor1 T A 12: 111,076,228 (GRCm39) Y395* probably null Het
Slc35f6 G T 5: 30,805,410 (GRCm39) probably benign Het
Slc40a1 A G 1: 45,950,129 (GRCm39) V441A probably benign Het
Slc6a13 T A 6: 121,295,228 (GRCm39) F77Y probably damaging Het
Slc6a15 T A 10: 103,229,406 (GRCm39) C148* probably null Het
Sox10 T C 15: 79,040,640 (GRCm39) Y300C probably damaging Het
Tomm70a T A 16: 56,958,383 (GRCm39) probably benign Het
Tor4a A G 2: 25,085,537 (GRCm39) V122A probably benign Het
Tpi1 T C 6: 124,791,138 (GRCm39) Q33R probably benign Het
Unk T C 11: 115,940,184 (GRCm39) V179A probably benign Het
Ush2a G T 1: 188,365,787 (GRCm39) G2214C probably damaging Het
Vmn1r159 T A 7: 22,542,912 (GRCm39) Y40F probably benign Het
Wbp2nl T C 15: 82,192,748 (GRCm39) V144A probably benign Het
Wdpcp A G 11: 21,835,040 (GRCm39) E681G probably benign Het
Other mutations in D17H6S53E
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:D17H6S53E APN 17 35,346,259 (GRCm39) nonsense probably null 0.00
R0833:D17H6S53E UTSW 17 35,346,385 (GRCm39) splice site probably null
R0836:D17H6S53E UTSW 17 35,346,385 (GRCm39) splice site probably null
R1690:D17H6S53E UTSW 17 35,346,188 (GRCm39) missense possibly damaging 0.95
R3623:D17H6S53E UTSW 17 35,346,512 (GRCm39) missense probably benign 0.03
R3624:D17H6S53E UTSW 17 35,346,512 (GRCm39) missense probably benign 0.03
R4032:D17H6S53E UTSW 17 35,346,355 (GRCm39) missense probably benign 0.06
R6919:D17H6S53E UTSW 17 35,346,222 (GRCm39) missense probably damaging 1.00
R8467:D17H6S53E UTSW 17 35,346,246 (GRCm39) missense probably damaging 1.00
R9532:D17H6S53E UTSW 17 35,346,145 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- GGGACCTCAAAGTGGATCAAC -3'
(R):5'- CAAAGCATCCAAGATGGCTC -3'

Sequencing Primer
(F):5'- AATGGATTCCCTCAAGCGG -3'
(R):5'- CATCCAAGATGGCTCGGAGTG -3'
Posted On 2022-03-25