Incidental Mutation 'R9721:4931428F04Rik'
ID 730799
Institutional Source Beutler Lab
Gene Symbol 4931428F04Rik
Ensembl Gene ENSMUSG00000014837
Gene Name RIKEN cDNA 4931428F04 gene
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R9721 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 105280409-105289864 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105283188 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 376 (D376E)
Ref Sequence ENSEMBL: ENSMUSP00000014981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014920] [ENSMUST00000014981] [ENSMUST00000171788] [ENSMUST00000212219] [ENSMUST00000212922]
AlphaFold Q810A5
Predicted Effect probably benign
Transcript: ENSMUST00000014920
SMART Domains Protein: ENSMUSP00000014920
Gene: ENSMUSG00000014776

DomainStartEndE-ValueType
CARD 4 92 2.1e-27 SMART
low complexity region 149 161 N/A INTRINSIC
low complexity region 173 209 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000014981
AA Change: D376E

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000014981
Gene: ENSMUSG00000014837
AA Change: D376E

DomainStartEndE-ValueType
DUF1704 148 457 1.07e-139 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171788
AA Change: D376E

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000128530
Gene: ENSMUSG00000014837
AA Change: D376E

DomainStartEndE-ValueType
DUF1704 148 457 1.07e-139 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000212219
AA Change: D376E

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000212922
AA Change: D376E

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,419,283 Y120N probably benign Het
2410089E03Rik A G 15: 8,225,409 T27A unknown Het
AI314180 A T 4: 58,850,938 S412T probably benign Het
Alox8 T A 11: 69,197,085 H131L probably benign Het
Atp13a1 A G 8: 69,799,437 E588G probably damaging Het
AU040320 G A 4: 126,839,648 V654M probably damaging Het
Bicra A G 7: 15,979,176 L982P probably damaging Het
Cdh11 A T 8: 102,679,625 V72E probably damaging Het
Cfap65 T C 1: 74,919,342 T869A probably benign Het
Ddx19a A G 8: 110,978,475 F338S probably damaging Het
Dhrs7c T A 11: 67,815,078 V219E probably damaging Het
Dhx33 A G 11: 71,001,598 V115A probably damaging Het
Dst A G 1: 34,192,785 D3153G probably benign Het
Eif5b T C 1: 38,037,659 probably null Het
Ep300 A G 15: 81,608,315 N284S unknown Het
Fam83a A G 15: 57,986,117 N19S probably benign Het
Fgd5 A T 6: 91,988,297 T504S probably benign Het
Flt4 G A 11: 49,644,433 probably null Het
Ggta1 G T 2: 35,413,406 D91E probably benign Het
Gls A G 1: 52,212,268 V310A probably damaging Het
Gm13178 A T 4: 144,703,372 V349D possibly damaging Het
Gm5414 A T 15: 101,628,147 C14* probably null Het
Gm906 T C 13: 50,246,652 Y546C possibly damaging Het
Gm9887 C G 12: 69,371,855 A202P unknown Het
Ifi214 T C 1: 173,527,913 T110A possibly damaging Het
Il4i1 A G 7: 44,839,689 R293G probably benign Het
Itpr1 A T 6: 108,406,102 T1464S probably damaging Het
Kif18a T C 2: 109,293,055 S225P probably damaging Het
Kif21a A T 15: 90,971,127 I678N probably damaging Het
Klf11 T A 12: 24,660,241 D429E probably damaging Het
Kntc1 A G 5: 123,801,885 T1581A probably benign Het
Lama2 T C 10: 27,467,342 N45D possibly damaging Het
Lrrk1 T C 7: 66,274,875 I1319V probably damaging Het
Ltbr G A 6: 125,307,385 R365W probably damaging Het
Malrd1 C T 2: 15,696,827 T751I unknown Het
Mgat5b T C 11: 116,966,769 L363P probably damaging Het
Mphosph9 A T 5: 124,298,675 S535R possibly damaging Het
Nckap5 C T 1: 126,027,280 D512N probably damaging Het
Ngef T A 1: 87,479,135 D637V probably damaging Het
Nup93 T C 8: 94,303,685 Y391H probably damaging Het
Olfr1215 T C 2: 89,001,716 T191A Het
Olfr1406 C A 1: 173,184,348 V29F probably benign Het
Olfr1469 A T 19: 13,410,970 T134S probably benign Het
Pcdhb4 C A 18: 37,309,852 D738E possibly damaging Het
Pfpl G C 19: 12,428,933 E183Q probably damaging Het
Phactr3 G A 2: 178,256,250 E86K probably damaging Het
Psd C T 19: 46,323,189 D351N probably benign Het
Pzp A G 6: 128,495,191 probably null Het
Rerg T A 6: 137,056,417 K106* probably null Het
Samd9l T C 6: 3,375,854 E469G possibly damaging Het
Smok2b C A 17: 13,234,978 Y8* probably null Het
Spn A G 7: 127,136,265 S357P probably benign Het
Tek T G 4: 94,804,302 W216G possibly damaging Het
Trpm3 A T 19: 22,889,398 H531L probably benign Het
Trpm6 A G 19: 18,829,972 M1027V probably benign Het
Tsc2 G A 17: 24,599,642 R1408* probably null Het
Unc13b A G 4: 43,101,869 N155D probably benign Het
Vmn1r52 G A 6: 90,179,026 C104Y probably damaging Het
Xylt1 A T 7: 117,549,020 E273V probably damaging Het
Zc3h4 C A 7: 16,434,845 Q1035K unknown Het
Zcchc11 T A 4: 108,555,581 M1493K probably benign Het
Zfp14 A T 7: 30,039,184 S125R probably benign Het
Other mutations in 4931428F04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01812:4931428F04Rik APN 8 105284657 splice site probably benign
IGL02544:4931428F04Rik APN 8 105283460 missense probably benign 0.44
IGL02822:4931428F04Rik APN 8 105284698 missense probably damaging 1.00
PIT4403001:4931428F04Rik UTSW 8 105284744 missense probably benign 0.36
R0357:4931428F04Rik UTSW 8 105285067 missense probably damaging 1.00
R0507:4931428F04Rik UTSW 8 105284719 missense probably damaging 1.00
R1759:4931428F04Rik UTSW 8 105285550 missense probably damaging 0.96
R2874:4931428F04Rik UTSW 8 105282032 missense possibly damaging 0.95
R3896:4931428F04Rik UTSW 8 105283288 missense probably benign 0.00
R4960:4931428F04Rik UTSW 8 105283211 missense probably damaging 1.00
R5341:4931428F04Rik UTSW 8 105285055 missense probably damaging 1.00
R5834:4931428F04Rik UTSW 8 105282123 nonsense probably null
R6863:4931428F04Rik UTSW 8 105285803 missense probably damaging 1.00
R7247:4931428F04Rik UTSW 8 105284699 missense probably benign 0.05
R8130:4931428F04Rik UTSW 8 105285513 missense probably benign 0.00
R9258:4931428F04Rik UTSW 8 105282143 missense probably damaging 0.98
R9579:4931428F04Rik UTSW 8 105285747 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AATCAATGGTGTGCCGGTG -3'
(R):5'- GATTGCAGTACGGCCTTCAG -3'

Sequencing Primer
(F):5'- GTGTGCCGGTGCCGTAG -3'
(R):5'- CTGGCTAGCCTGCATAGTG -3'
Posted On 2022-10-06