Incidental Mutation 'IGL02445:4930432K21Rik'
ID293557
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930432K21Rik
Ensembl Gene ENSMUSG00000008129
Gene NameRIKEN cDNA 4930432K21 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL02445
Quality Score
Status
Chromosome8
Chromosomal Location84148025-84172590 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 84159508 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 31 (M31K)
Ref Sequence ENSEMBL: ENSMUSP00000113651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093375] [ENSMUST00000118856] [ENSMUST00000143833]
Predicted Effect probably benign
Transcript: ENSMUST00000093375
AA Change: M31K

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000091067
Gene: ENSMUSG00000008129
AA Change: M31K

DomainStartEndE-ValueType
low complexity region 226 241 N/A INTRINSIC
low complexity region 291 306 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116684
Predicted Effect probably benign
Transcript: ENSMUST00000118856
AA Change: M31K

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000113651
Gene: ENSMUSG00000008129
AA Change: M31K

DomainStartEndE-ValueType
Pfam:DUF4671 1 193 2.1e-62 PFAM
Pfam:DUF4671 181 600 7.3e-131 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143833
AA Change: M31K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C T 5: 114,245,137 T2127M probably damaging Het
Acp2 A G 2: 91,206,261 D175G possibly damaging Het
Adamts12 T C 15: 11,286,712 L801P probably damaging Het
Adcy10 T G 1: 165,570,744 V1470G possibly damaging Het
Ankar T G 1: 72,666,365 K829Q probably benign Het
Arhgef10l T C 4: 140,547,007 Y531C probably benign Het
Atm T C 9: 53,454,330 I2590V probably benign Het
Cblb T C 16: 52,166,305 L485P probably damaging Het
Col4a1 T C 8: 11,233,911 probably benign Het
Coprs T C 8: 13,885,797 K74R possibly damaging Het
Cul3 A T 1: 80,304,169 L31M possibly damaging Het
Cyp3a59 C A 5: 146,096,653 Q200K probably benign Het
Ddx19b C A 8: 111,008,824 V402L probably damaging Het
Disc1 T A 8: 125,148,403 probably benign Het
Dsg4 C T 18: 20,446,250 probably benign Het
Dspp A C 5: 104,177,097 Y442S probably damaging Het
Dtl C T 1: 191,558,060 probably null Het
Ezh1 A C 11: 101,210,687 V175G possibly damaging Het
Hepacam2 C T 6: 3,483,481 G100D probably damaging Het
Herc1 T A 9: 66,433,482 H1704Q possibly damaging Het
Kif26a T C 12: 112,173,743 S469P probably damaging Het
Lefty1 T C 1: 180,937,677 M270T probably benign Het
Nap1l3 A T X: 122,396,055 V322D probably damaging Het
Ndufv2 A G 17: 66,080,894 probably benign Het
Olfr1179 G A 2: 88,402,112 T274I possibly damaging Het
Olfr126 A T 17: 37,851,117 H175L probably damaging Het
Olfr922 T C 9: 38,815,605 I34T possibly damaging Het
Otol1 A T 3: 70,028,034 D453V probably damaging Het
Papolb G A 5: 142,528,725 H388Y probably benign Het
Ppp1r10 A G 17: 35,926,202 E128G probably damaging Het
Prss12 T A 3: 123,487,020 D451E probably damaging Het
Psmc1 T C 12: 100,114,828 probably benign Het
Pygo1 T A 9: 72,925,940 I10N probably benign Het
Rab31 C T 17: 65,722,003 probably null Het
Ret G A 6: 118,181,899 T184I probably damaging Het
Rhd A T 4: 134,884,170 M214L possibly damaging Het
Ripor3 C A 2: 167,992,762 probably benign Het
Sec16a A G 2: 26,422,040 L2036P probably benign Het
Slc26a3 C A 12: 31,457,052 D335E possibly damaging Het
Ssfa2 G A 2: 79,657,498 E642K probably damaging Het
Taf6 A G 5: 138,184,494 probably benign Het
Tnk2 T C 16: 32,675,590 V442A probably benign Het
Virma A G 4: 11,527,029 M1143V probably damaging Het
Vmn2r77 A T 7: 86,803,640 R522* probably null Het
Vmn2r-ps129 A G 17: 23,008,419 noncoding transcript Het
Zfp473 A G 7: 44,733,683 C408R probably damaging Het
Other mutations in 4930432K21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00901:4930432K21Rik APN 8 84166771 missense probably damaging 0.99
IGL00964:4930432K21Rik APN 8 84166714 missense probably benign 0.07
IGL01826:4930432K21Rik APN 8 84166672 missense probably benign 0.03
R0113:4930432K21Rik UTSW 8 84167242 missense probably damaging 1.00
R1479:4930432K21Rik UTSW 8 84162397 missense possibly damaging 0.59
R1590:4930432K21Rik UTSW 8 84167086 missense probably benign 0.28
R3011:4930432K21Rik UTSW 8 84166910 nonsense probably null
R4357:4930432K21Rik UTSW 8 84159592 missense probably benign 0.25
R5642:4930432K21Rik UTSW 8 84167485 missense probably damaging 0.99
R5664:4930432K21Rik UTSW 8 84166659 missense probably benign 0.25
R5722:4930432K21Rik UTSW 8 84171844 missense probably damaging 0.96
R7031:4930432K21Rik UTSW 8 84166684 missense possibly damaging 0.83
R7224:4930432K21Rik UTSW 8 84172213 missense probably benign
R7303:4930432K21Rik UTSW 8 84161233 missense probably benign 0.38
R7459:4930432K21Rik UTSW 8 84167352 missense probably benign 0.03
R7618:4930432K21Rik UTSW 8 84166870 missense possibly damaging 0.85
RF040:4930432K21Rik UTSW 8 84167575 small insertion probably benign
Posted On2015-04-16