Incidental Mutation 'R7506:4931406C07Rik'
ID 581794
Institutional Source Beutler Lab
Gene Symbol 4931406C07Rik
Ensembl Gene ENSMUSG00000031938
Gene Name RIKEN cDNA 4931406C07 gene
Synonyms
MMRRC Submission 045579-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7506 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 15194633-15217744 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 15209202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 31 (V31I)
Ref Sequence ENSEMBL: ENSMUSP00000034414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034414] [ENSMUST00000178977] [ENSMUST00000180339] [ENSMUST00000216955] [ENSMUST00000217042]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034414
AA Change: V31I

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000034414
Gene: ENSMUSG00000031938
AA Change: V31I

DomainStartEndE-ValueType
DUF1907 19 303 3.83e-200 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000178977
AA Change: V31I

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000136335
Gene: ENSMUSG00000031938
AA Change: V31I

DomainStartEndE-ValueType
DUF1907 19 303 3.83e-200 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000180339
AA Change: V31I

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000136717
Gene: ENSMUSG00000031938
AA Change: V31I

DomainStartEndE-ValueType
DUF1907 19 303 3.83e-200 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000216955
Predicted Effect probably damaging
Transcript: ENSMUST00000217042
AA Change: V31I

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
Meta Mutation Damage Score 0.2211 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T C 4: 62,450,498 (GRCm39) V24A possibly damaging Het
Adamtsl3 A T 7: 82,164,186 (GRCm39) R334W probably damaging Het
Aox1 G A 1: 58,088,562 (GRCm39) C116Y probably damaging Het
B3gntl1 A T 11: 121,561,740 (GRCm39) I74N probably damaging Het
Bicra C T 7: 15,722,138 (GRCm39) V460M possibly damaging Het
Ccdc18 G A 5: 108,311,605 (GRCm39) C437Y possibly damaging Het
Cdh6 A G 15: 13,034,396 (GRCm39) S755P probably damaging Het
Crtc2 G T 3: 90,166,519 (GRCm39) A165S probably damaging Het
Cwf19l2 C T 9: 3,456,775 (GRCm39) H703Y probably damaging Het
Cyc1 C A 15: 76,227,885 (GRCm39) T41K probably benign Het
Defb28 A T 2: 152,360,221 (GRCm39) H12L possibly damaging Het
Dsg3 T A 18: 20,666,521 (GRCm39) C577S probably benign Het
Ggt6 G T 11: 72,328,724 (GRCm39) C408F possibly damaging Het
Gm3278 T A 14: 16,080,479 (GRCm39) Y97N probably damaging Het
Gpr155 A G 2: 73,198,683 (GRCm39) L412P probably damaging Het
Gucd1 T C 10: 75,347,019 (GRCm39) H77R probably benign Het
H2bc8 G A 13: 23,755,658 (GRCm39) A18T unknown Het
Hat1 T A 2: 71,250,691 (GRCm39) I158N probably damaging Het
Hhla1 C T 15: 65,808,231 (GRCm39) W271* probably null Het
Igsf10 T A 3: 59,226,775 (GRCm39) L2299F probably damaging Het
Iqsec1 A G 6: 90,644,891 (GRCm39) S914P probably damaging Het
Iqsec1 G T 6: 90,639,788 (GRCm39) H983Q possibly damaging Het
Irx2 G T 13: 72,777,328 (GRCm39) G50C probably damaging Het
Kif26b T C 1: 178,357,064 (GRCm39) probably benign Het
Lmo7 A G 14: 102,157,045 (GRCm39) E1405G unknown Het
Mdm2 T C 10: 117,526,596 (GRCm39) D330G possibly damaging Het
Mgat5 A C 1: 127,294,192 (GRCm39) D178A probably benign Het
Mier2 C A 10: 79,386,176 (GRCm39) R25L probably benign Het
Mlip T C 9: 77,072,085 (GRCm39) K257E probably damaging Het
Mtfr2 T C 10: 20,229,131 (GRCm39) S80P probably benign Het
Ndst2 A G 14: 20,780,153 (GRCm39) V29A probably benign Het
Negr1 T G 3: 156,774,870 (GRCm39) Y195* probably null Het
Nptn T C 9: 58,526,156 (GRCm39) L101P probably damaging Het
Nrip1 G A 16: 76,091,347 (GRCm39) T70I probably damaging Het
Nrtn C T 17: 57,058,633 (GRCm39) V123M probably damaging Het
Onecut1 T A 9: 74,770,522 (GRCm39) F315Y possibly damaging Het
Or1p1 A T 11: 74,179,949 (GRCm39) H159L possibly damaging Het
P4htm A G 9: 108,460,878 (GRCm39) L198S probably damaging Het
Pappa A C 4: 65,149,419 (GRCm39) I920L probably benign Het
Pcdhgb5 A C 18: 37,865,525 (GRCm39) D440A probably damaging Het
Ppard A T 17: 28,517,735 (GRCm39) N268Y possibly damaging Het
Rapgef6 T A 11: 54,526,997 (GRCm39) S563T probably benign Het
Rtn3 T A 19: 7,407,118 (GRCm39) E949D probably benign Het
Sf3a1 T C 11: 4,127,561 (GRCm39) M629T probably benign Het
Slc39a8 T C 3: 135,590,067 (GRCm39) I319T probably benign Het
Sorcs1 C T 19: 50,171,112 (GRCm39) W925* probably null Het
Spag9 G A 11: 93,999,290 (GRCm39) D1069N probably damaging Het
Taar7a A G 10: 23,868,892 (GRCm39) V163A possibly damaging Het
Tmem150a G A 6: 72,333,753 (GRCm39) probably null Het
Tnxb G A 17: 34,934,665 (GRCm39) V2425I possibly damaging Het
Tppp2 A G 14: 52,158,058 (GRCm39) K168E possibly damaging Het
Ttn T A 2: 76,719,812 (GRCm39) D7099V unknown Het
Vmn1r41 A T 6: 89,724,159 (GRCm39) R50* probably null Het
Vmn1r60 T C 7: 5,547,861 (GRCm39) K80E Het
Vmn2r18 A G 5: 151,508,485 (GRCm39) F213S possibly damaging Het
Vmn2r26 G A 6: 124,016,700 (GRCm39) S388N probably benign Het
Vmn2r63 A T 7: 42,576,391 (GRCm39) F474Y probably damaging Het
Zc3hav1 G A 6: 38,309,875 (GRCm39) R316* probably null Het
Zfp654 A T 16: 64,612,211 (GRCm39) I225N probably damaging Het
Zfp97 A G 17: 17,365,542 (GRCm39) E347G probably damaging Het
Other mutations in 4931406C07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02937:4931406C07Rik APN 9 15,206,049 (GRCm39) missense probably damaging 1.00
R0116:4931406C07Rik UTSW 9 15,202,066 (GRCm39) missense probably damaging 1.00
R0826:4931406C07Rik UTSW 9 15,203,292 (GRCm39) splice site probably null
R1677:4931406C07Rik UTSW 9 15,212,660 (GRCm39) splice site probably null
R1706:4931406C07Rik UTSW 9 15,209,153 (GRCm39) missense probably damaging 1.00
R6333:4931406C07Rik UTSW 9 15,203,372 (GRCm39) missense probably benign 0.19
R6631:4931406C07Rik UTSW 9 15,203,326 (GRCm39) missense probably damaging 1.00
R6881:4931406C07Rik UTSW 9 15,202,061 (GRCm39) missense possibly damaging 0.82
R7643:4931406C07Rik UTSW 9 15,209,156 (GRCm39) missense probably damaging 1.00
R8438:4931406C07Rik UTSW 9 15,201,962 (GRCm39) critical splice donor site probably null
R8738:4931406C07Rik UTSW 9 15,196,214 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGAAGGGGTCTAAGCATTTAATAG -3'
(R):5'- ATGCTTTGCACTTAAGCCCG -3'

Sequencing Primer
(F):5'- GCCTAAAAAGAGGCTTACT -3'
(R):5'- ACTTAAGCCCGGGGTTGGTC -3'
Posted On 2019-10-17