Incidental Mutation 'R2030:Spata31g1'
ID 221110
Institutional Source Beutler Lab
Gene Symbol Spata31g1
Ensembl Gene ENSMUSG00000028451
Gene Name SPATA31 subfamily G member 1
Synonyms 1700022I11Rik
MMRRC Submission 040037-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R2030 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 42969946-42974325 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 42974131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 1155 (Q1155*)
Ref Sequence ENSEMBL: ENSMUSP00000030163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030163] [ENSMUST00000139127] [ENSMUST00000185904] [ENSMUST00000190902]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000030163
AA Change: Q1155*
SMART Domains Protein: ENSMUSP00000030163
Gene: ENSMUSG00000028451
AA Change: Q1155*

DomainStartEndE-ValueType
low complexity region 38 55 N/A INTRINSIC
low complexity region 85 93 N/A INTRINSIC
low complexity region 253 269 N/A INTRINSIC
internal_repeat_1 322 432 6.53e-5 PROSPERO
low complexity region 434 449 N/A INTRINSIC
low complexity region 507 521 N/A INTRINSIC
low complexity region 599 610 N/A INTRINSIC
internal_repeat_1 622 738 6.53e-5 PROSPERO
low complexity region 847 861 N/A INTRINSIC
low complexity region 897 908 N/A INTRINSIC
low complexity region 914 925 N/A INTRINSIC
low complexity region 944 958 N/A INTRINSIC
low complexity region 990 1001 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139127
SMART Domains Protein: ENSMUSP00000116415
Gene: ENSMUSG00000028451

DomainStartEndE-ValueType
low complexity region 38 55 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185904
SMART Domains Protein: ENSMUSP00000140492
Gene: ENSMUSG00000028451

DomainStartEndE-ValueType
low complexity region 25 33 N/A INTRINSIC
Pfam:FAM75 99 149 2e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189414
Predicted Effect probably benign
Transcript: ENSMUST00000190902
SMART Domains Protein: ENSMUSP00000140363
Gene: ENSMUSG00000028451

DomainStartEndE-ValueType
low complexity region 49 57 N/A INTRINSIC
low complexity region 217 233 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (54/54)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adtrp C T 13: 41,981,735 (GRCm39) V13I probably damaging Het
Ak2 A G 4: 128,902,013 (GRCm39) K229E probably benign Het
Atp13a4 A T 16: 29,241,502 (GRCm39) V741D probably damaging Het
Bdp1 A T 13: 100,197,697 (GRCm39) M896K probably benign Het
Ccser1 C T 6: 61,288,547 (GRCm39) R237C probably benign Het
Cdk7 A G 13: 100,859,182 (GRCm39) probably benign Het
CK137956 A G 4: 127,845,180 (GRCm39) S188P probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dbndd2 A G 2: 164,330,563 (GRCm39) D72G probably damaging Het
Disp3 A T 4: 148,344,423 (GRCm39) I493N probably damaging Het
Dnaaf10 A T 11: 17,179,832 (GRCm39) T278S probably benign Het
Epx T C 11: 87,755,650 (GRCm39) D678G probably damaging Het
Fbxw5 G T 2: 25,394,810 (GRCm39) V235L probably damaging Het
Fmo4 T A 1: 162,621,741 (GRCm39) D490V probably damaging Het
Fuca2 A G 10: 13,382,518 (GRCm39) Y268C probably damaging Het
Gm4787 C T 12: 81,425,544 (GRCm39) V205I probably damaging Het
Gpat3 G A 5: 101,045,687 (GRCm39) R437K probably benign Het
Herc2 A G 7: 55,834,121 (GRCm39) S3109G probably damaging Het
Hr G A 14: 70,808,888 (GRCm39) R1117H probably damaging Het
Htra4 T A 8: 25,523,593 (GRCm39) D324V probably damaging Het
Kcnd3 A G 3: 105,366,853 (GRCm39) Y241C probably damaging Het
Kcp G A 6: 29,489,071 (GRCm39) L1072F probably damaging Het
Lrrc52 T C 1: 167,294,028 (GRCm39) N86D probably benign Het
Mindy4 A G 6: 55,188,247 (GRCm39) T26A probably damaging Het
Mre11a A T 9: 14,707,101 (GRCm39) N117Y probably damaging Het
Mrgprb1 A T 7: 48,097,076 (GRCm39) S279T possibly damaging Het
Myh13 T G 11: 67,241,064 (GRCm39) S814A probably benign Het
Ncapd2 A G 6: 125,153,678 (GRCm39) V679A possibly damaging Het
Nipbl A T 15: 8,379,771 (GRCm39) V1007D probably damaging Het
Nlrp12 T A 7: 3,277,049 (GRCm39) H960L probably damaging Het
Or3a1c T A 11: 74,046,769 (GRCm39) M263K possibly damaging Het
Or4a72 C T 2: 89,405,558 (GRCm39) V171I probably benign Het
Or7e169 A G 9: 19,757,709 (GRCm39) S69P probably benign Het
Pklr A G 3: 89,050,545 (GRCm39) Y402C probably damaging Het
Prdm2 T C 4: 142,859,334 (GRCm39) T1319A possibly damaging Het
Rif1 T A 2: 51,982,358 (GRCm39) V541E probably damaging Het
Ryk T A 9: 102,758,855 (GRCm39) I248N possibly damaging Het
Shisa2 A T 14: 59,867,134 (GRCm39) I129F probably damaging Het
Snap25 T G 2: 136,611,973 (GRCm39) probably benign Het
Snx31 G A 15: 36,525,848 (GRCm39) P284S probably benign Het
Tas2r140 A G 6: 40,469,154 (GRCm39) K328R possibly damaging Het
Tas2r140 T C 6: 133,032,213 (GRCm39) T182A probably benign Het
Thumpd2 G A 17: 81,372,387 (GRCm39) R35C probably damaging Het
Tnxb A T 17: 34,937,443 (GRCm39) N3811Y probably damaging Het
Tpte A C 8: 22,835,901 (GRCm39) N428T probably damaging Het
Trpm6 A G 19: 18,831,629 (GRCm39) D1498G probably benign Het
Tsc2 C T 17: 24,842,444 (GRCm39) probably benign Het
Ttn C T 2: 76,703,277 (GRCm39) probably benign Het
Wdr24 A G 17: 26,045,017 (GRCm39) I251V probably benign Het
Zc3h6 T C 2: 128,848,006 (GRCm39) Y278H probably damaging Het
Zfat A G 15: 67,990,783 (GRCm39) probably null Het
Zfp442 A T 2: 150,250,042 (GRCm39) V620E possibly damaging Het
Zfp788 A G 7: 41,298,984 (GRCm39) H540R probably damaging Het
Other mutations in Spata31g1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00161:Spata31g1 APN 4 42,973,982 (GRCm39) missense probably benign 0.40
IGL01340:Spata31g1 APN 4 42,971,984 (GRCm39) missense possibly damaging 0.94
IGL02078:Spata31g1 APN 4 42,972,685 (GRCm39) missense possibly damaging 0.71
IGL02082:Spata31g1 APN 4 42,970,198 (GRCm39) missense probably benign 0.00
IGL02993:Spata31g1 APN 4 42,971,719 (GRCm39) missense probably damaging 0.99
IGL03174:Spata31g1 APN 4 42,970,975 (GRCm39) missense probably benign 0.00
IGL03188:Spata31g1 APN 4 42,971,225 (GRCm39) missense possibly damaging 0.56
R0031:Spata31g1 UTSW 4 42,973,712 (GRCm39) missense probably damaging 0.99
R0179:Spata31g1 UTSW 4 42,972,214 (GRCm39) missense probably benign 0.00
R0409:Spata31g1 UTSW 4 42,972,203 (GRCm39) missense probably damaging 0.98
R0422:Spata31g1 UTSW 4 42,972,199 (GRCm39) missense possibly damaging 0.95
R0462:Spata31g1 UTSW 4 42,973,429 (GRCm39) missense probably benign
R0467:Spata31g1 UTSW 4 42,972,715 (GRCm39) missense probably benign
R0677:Spata31g1 UTSW 4 42,970,952 (GRCm39) nonsense probably null
R0723:Spata31g1 UTSW 4 42,971,691 (GRCm39) missense probably damaging 0.98
R1479:Spata31g1 UTSW 4 42,972,543 (GRCm39) missense possibly damaging 0.55
R1586:Spata31g1 UTSW 4 42,971,512 (GRCm39) missense probably benign 0.03
R1956:Spata31g1 UTSW 4 42,970,105 (GRCm39) splice site probably null
R2074:Spata31g1 UTSW 4 42,974,171 (GRCm39) missense probably benign 0.38
R2162:Spata31g1 UTSW 4 42,972,238 (GRCm39) missense possibly damaging 0.59
R2419:Spata31g1 UTSW 4 42,974,146 (GRCm39) missense possibly damaging 0.94
R2939:Spata31g1 UTSW 4 42,972,946 (GRCm39) missense probably benign 0.04
R3615:Spata31g1 UTSW 4 42,971,864 (GRCm39) missense probably benign 0.10
R3616:Spata31g1 UTSW 4 42,971,864 (GRCm39) missense probably benign 0.10
R3981:Spata31g1 UTSW 4 42,971,534 (GRCm39) missense probably damaging 0.99
R5037:Spata31g1 UTSW 4 42,972,195 (GRCm39) missense probably benign
R5252:Spata31g1 UTSW 4 42,971,706 (GRCm39) missense probably benign 0.00
R5526:Spata31g1 UTSW 4 42,972,125 (GRCm39) missense possibly damaging 0.90
R5642:Spata31g1 UTSW 4 42,971,831 (GRCm39) missense possibly damaging 0.61
R5935:Spata31g1 UTSW 4 42,971,465 (GRCm39) missense probably benign
R6082:Spata31g1 UTSW 4 42,972,511 (GRCm39) missense probably benign 0.27
R6136:Spata31g1 UTSW 4 42,972,853 (GRCm39) missense probably damaging 0.96
R6361:Spata31g1 UTSW 4 42,972,695 (GRCm39) missense probably benign 0.05
R6494:Spata31g1 UTSW 4 42,971,924 (GRCm39) missense possibly damaging 0.94
R6641:Spata31g1 UTSW 4 42,971,245 (GRCm39) missense possibly damaging 0.90
R7289:Spata31g1 UTSW 4 42,973,252 (GRCm39) missense possibly damaging 0.66
R7289:Spata31g1 UTSW 4 42,972,379 (GRCm39) missense probably benign 0.00
R7777:Spata31g1 UTSW 4 42,971,095 (GRCm39) missense probably benign
R7777:Spata31g1 UTSW 4 42,970,171 (GRCm39) nonsense probably null
R7893:Spata31g1 UTSW 4 42,971,539 (GRCm39) missense probably damaging 0.99
R8066:Spata31g1 UTSW 4 42,971,929 (GRCm39) missense possibly damaging 0.66
R8311:Spata31g1 UTSW 4 42,973,169 (GRCm39) missense probably benign 0.19
R8706:Spata31g1 UTSW 4 42,971,776 (GRCm39) missense probably benign 0.02
R8743:Spata31g1 UTSW 4 42,971,030 (GRCm39) missense probably benign 0.00
R8774:Spata31g1 UTSW 4 42,971,087 (GRCm39) missense probably damaging 1.00
R8774-TAIL:Spata31g1 UTSW 4 42,971,087 (GRCm39) missense probably damaging 1.00
R8806:Spata31g1 UTSW 4 42,971,261 (GRCm39) missense probably benign 0.37
R8916:Spata31g1 UTSW 4 42,973,034 (GRCm39) missense probably damaging 1.00
R8927:Spata31g1 UTSW 4 42,972,251 (GRCm39) missense probably benign 0.00
R8928:Spata31g1 UTSW 4 42,972,251 (GRCm39) missense probably benign 0.00
R8947:Spata31g1 UTSW 4 42,972,097 (GRCm39) missense probably benign 0.17
R9193:Spata31g1 UTSW 4 42,971,519 (GRCm39) missense probably benign 0.01
R9569:Spata31g1 UTSW 4 42,971,740 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- GCATAAAGCTCAGAGTTCCCC -3'
(R):5'- GTGGTTACTCTGCTCACTCCAG -3'

Sequencing Primer
(F):5'- AGAGTTCCCCACATTCGGC -3'
(R):5'- CATTACAGGTAGTTGTGAGCCACC -3'
Posted On 2014-08-25