Incidental Mutation 'R8806:Spata31g1'
ID 672049
Institutional Source Beutler Lab
Gene Symbol Spata31g1
Ensembl Gene ENSMUSG00000028451
Gene Name SPATA31 subfamily G member 1
Synonyms 1700022I11Rik
MMRRC Submission 068612-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R8806 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 42969946-42974325 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 42971261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 198 (D198G)
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 benign
Transcript: ENSMUST00000030163
AA Change: D198G

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000030163
Gene: ENSMUSG00000028451
AA Change: D198G

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
AA Change: D138G

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000140492
Gene: ENSMUSG00000028451
AA Change: D138G

DomainStartEndE-ValueType
low complexity region 25 33 N/A INTRINSIC
Pfam:FAM75 99 149 2e-5 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000190902
AA Change: D162G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140363
Gene: ENSMUSG00000028451
AA Change: D162G

DomainStartEndE-ValueType
low complexity region 49 57 N/A INTRINSIC
low complexity region 217 233 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.4%
Validation Efficiency 100% (66/66)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,084,520 (GRCm39) M586V probably benign Het
Adam6b G A 12: 113,455,418 (GRCm39) R745H possibly damaging Het
Afg3l1 A G 8: 124,220,657 (GRCm39) D462G probably damaging Het
Anapc1 T A 2: 128,464,333 (GRCm39) Q1721L possibly damaging Het
Arhgap11a T C 2: 113,665,107 (GRCm39) Y497C possibly damaging Het
Bcl7b T G 5: 135,208,824 (GRCm39) S96A possibly damaging Het
Birc6 T C 17: 74,949,311 (GRCm39) V3111A probably damaging Het
Cbx1 A G 11: 96,692,383 (GRCm39) D90G possibly damaging Het
Cdkl3 T C 11: 51,923,295 (GRCm39) F524S possibly damaging Het
Cops7b G A 1: 86,517,031 (GRCm39) G44R probably damaging Het
D130043K22Rik A G 13: 25,083,618 (GRCm39) S1028G probably benign Het
Decr1 T A 4: 15,945,351 (GRCm39) M1L probably benign Het
Dmtn T C 14: 70,852,388 (GRCm39) I167V probably benign Het
Dnah9 A G 11: 65,750,309 (GRCm39) L3932P probably damaging Het
Ece1 T A 4: 137,672,452 (GRCm39) I365N probably damaging Het
Efcab3 T A 11: 104,928,695 (GRCm39) M4815K probably benign Het
Exo5 T C 4: 120,779,602 (GRCm39) T88A probably benign Het
Frem3 T C 8: 81,390,064 (GRCm39) Y1772H probably benign Het
Gm5160 A G 18: 14,557,931 (GRCm39) N3D possibly damaging Het
Gm7138 T A 10: 77,612,717 (GRCm39) D21V unknown Het
Gm7298 C A 6: 121,761,641 (GRCm39) silent Het
Gucy2e A G 11: 69,126,942 (GRCm39) V177A probably benign Het
Islr C A 9: 58,064,256 (GRCm39) G417V unknown Het
Kif13a A T 13: 46,914,813 (GRCm39) M1458K possibly damaging Het
Mcm7 T C 5: 138,163,347 (GRCm39) D642G possibly damaging Het
Med24 A T 11: 98,595,970 (GRCm39) I941N probably damaging Het
Mrgprb8 C T 7: 48,038,976 (GRCm39) P216S possibly damaging Het
Myo5c T A 9: 75,150,054 (GRCm39) V13D probably damaging Het
N4bp2 T A 5: 65,965,551 (GRCm39) I1200K possibly damaging Het
Naip6 G A 13: 100,437,161 (GRCm39) T454M possibly damaging Het
Nfkb1 T C 3: 135,295,213 (GRCm39) Y877C probably damaging Het
Nolc1 C A 19: 46,071,471 (GRCm39) S473R unknown Het
Nop16 A C 13: 54,737,672 (GRCm39) probably benign Het
Nr3c2 T C 8: 77,969,092 (GRCm39) I959T probably damaging Het
Nup88 T G 11: 70,834,941 (GRCm39) K692N probably benign Het
Nvl C A 1: 180,922,619 (GRCm39) G818V probably benign Het
Or1i2 G T 10: 78,447,974 (GRCm39) T167N probably benign Het
Or4k6 T A 14: 50,475,376 (GRCm39) E322V probably benign Het
Or4n4 A G 14: 50,519,236 (GRCm39) I158T probably benign Het
Or4s2b T C 2: 88,508,955 (GRCm39) V245A probably benign Het
Or8b49 A T 9: 38,506,405 (GRCm39) D296V probably damaging Het
Or8k1 T C 2: 86,047,200 (GRCm39) I285V probably damaging Het
Plxnc1 G A 10: 94,635,140 (GRCm39) S1362L probably damaging Het
Ppfia2 C T 10: 106,694,114 (GRCm39) A696V probably damaging Het
Prl A G 13: 27,243,515 (GRCm39) Y62C probably damaging Het
Rnf135 A G 11: 80,089,762 (GRCm39) D366G probably damaging Het
Rrp8 A G 7: 105,384,244 (GRCm39) L86P probably damaging Het
Rsph4a T C 10: 33,785,445 (GRCm39) V452A probably damaging Het
Runx2 C A 17: 44,950,570 (GRCm39) V410L probably benign Het
Samd9l T C 6: 3,376,665 (GRCm39) T199A probably damaging Het
Sik3 T C 9: 46,120,365 (GRCm39) S745P probably damaging Het
Slc35e1 T A 8: 73,241,973 (GRCm39) S250C probably damaging Het
Snx31 A G 15: 36,537,698 (GRCm39) F160S probably damaging Het
Stim2 T A 5: 54,156,257 (GRCm39) V11E probably benign Het
Tektl1 A G 10: 78,588,306 (GRCm39) V168A probably damaging Het
Tmem135 G C 7: 88,797,186 (GRCm39) L357V probably benign Het
Tox4 T C 14: 52,524,318 (GRCm39) S151P probably damaging Het
Trim34b A T 7: 103,985,319 (GRCm39) D318V probably damaging Het
Ubtd1 T C 19: 42,022,195 (GRCm39) S156P probably damaging Het
Usp34 C A 11: 23,434,143 (GRCm39) L3240M Het
Vmn1r56 T C 7: 5,198,805 (GRCm39) S271G probably damaging Het
Vps13b T C 15: 35,472,212 (GRCm39) probably benign Het
Vps13c T C 9: 67,853,110 (GRCm39) F2401S probably damaging Het
Zbtb11 G A 16: 55,802,637 (GRCm39) V216I probably damaging Het
Zfp931 T C 2: 177,709,589 (GRCm39) T266A possibly damaging Het
Zfp956 A G 6: 47,933,042 (GRCm39) M106V probably benign 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
R2030:Spata31g1 UTSW 4 42,974,131 (GRCm39) nonsense 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
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'- ACACCCATCCTGTAGATCTGAGG -3'
(R):5'- TGAGAACCGGGTGCTATTTC -3'

Sequencing Primer
(F):5'- TGTAGATCTGAGGGCCGC -3'
(R):5'- AGAACCGGGTGCTATTTCTTCCAG -3'
Posted On 2021-04-30