Incidental Mutation 'R6136:Spata31g1'
ID 488339
Institutional Source Beutler Lab
Gene Symbol Spata31g1
Ensembl Gene ENSMUSG00000028451
Gene Name SPATA31 subfamily G member 1
Synonyms 1700022I11Rik
MMRRC Submission 044283-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R6136 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 42969946-42974325 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42972853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 729 (S729P)
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 damaging
Transcript: ENSMUST00000030163
AA Change: S729P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030163
Gene: ENSMUSG00000028451
AA Change: S729P

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 0.0921 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 98% (52/53)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik C A 4: 124,504,181 (GRCm39) G124C unknown Het
3425401B19Rik A T 14: 32,384,239 (GRCm39) D575E possibly damaging Het
Abca15 A T 7: 119,939,272 (GRCm39) H222L possibly damaging Het
Arhgef18 T C 8: 3,504,507 (GRCm39) V1013A probably benign Het
Arsj T C 3: 126,158,424 (GRCm39) M1T probably null Het
Atp10a A C 7: 58,478,088 (GRCm39) Q1377P probably benign Het
Atrip T A 9: 108,900,804 (GRCm39) E178D probably damaging Het
Cblif G A 19: 11,727,649 (GRCm39) A158T probably damaging Het
Chadl T C 15: 81,577,755 (GRCm39) N625D probably benign Het
Chrng G A 1: 87,137,523 (GRCm39) V320I probably benign Het
Cox11 T C 11: 90,535,221 (GRCm39) L84P probably damaging Het
Dchs1 T G 7: 105,410,132 (GRCm39) T1747P probably benign Het
Dnah12 A G 14: 26,597,227 (GRCm39) K3529E probably damaging Het
Ecd T C 14: 20,370,859 (GRCm39) N620S probably damaging Het
Fbn1 T A 2: 125,245,052 (GRCm39) K278N possibly damaging Het
Fcho2 T C 13: 98,926,275 (GRCm39) K103E probably damaging Het
Fzd7 T G 1: 59,522,419 (GRCm39) F101V probably damaging Het
Galnt13 G T 2: 54,406,491 (GRCm39) probably benign Het
Gm32647 C T 7: 94,124,939 (GRCm39) Het
Gm5624 A T 14: 44,797,333 (GRCm39) D152E probably benign Het
Heatr6 T A 11: 83,663,329 (GRCm39) V664E possibly damaging Het
Hpgd A G 8: 56,747,987 (GRCm39) D36G probably damaging Het
Ifnlr1 A G 4: 135,431,108 (GRCm39) T199A possibly damaging Het
Kalrn T G 16: 34,177,481 (GRCm39) D228A probably damaging Het
Miox T C 15: 89,219,524 (GRCm39) M47T probably damaging Het
Nampt A T 12: 32,880,301 (GRCm39) I65F probably benign Het
Ncf1 T C 5: 134,255,487 (GRCm39) K135E probably damaging Het
Nop53 G A 7: 15,672,314 (GRCm39) Q452* probably null Het
Or8u10 A G 2: 85,915,245 (GRCm39) L292S probably damaging Het
Pik3cg A G 12: 32,254,358 (GRCm39) V543A probably benign Het
Ralgds T C 2: 28,440,577 (GRCm39) probably null Het
Rap1a A G 3: 105,657,598 (GRCm39) V7A probably damaging Het
Rasal1 T C 5: 120,813,543 (GRCm39) V639A possibly damaging Het
Rassf8 A G 6: 145,761,382 (GRCm39) N236S probably benign Het
Rbm47 G C 5: 66,183,626 (GRCm39) R326G probably damaging Het
Sbno1 T C 5: 124,516,554 (GRCm39) D1272G probably benign Het
Setx A G 2: 29,038,039 (GRCm39) D1508G probably benign Het
Slc1a1 T A 19: 28,882,810 (GRCm39) L358Q probably damaging Het
Slc7a12 C A 3: 14,564,186 (GRCm39) L20I probably benign Het
Spats2l C T 1: 57,941,302 (GRCm39) T187M probably damaging Het
Specc1l A G 10: 75,082,494 (GRCm39) D647G probably benign Het
Steap4 G A 5: 8,028,562 (GRCm39) R380Q probably damaging Het
Syne2 A G 12: 75,952,099 (GRCm39) S456G probably benign Het
Tfcp2 G T 15: 100,410,194 (GRCm39) T391N probably damaging Het
Tns2 T A 15: 102,015,465 (GRCm39) D122E probably damaging Het
Tshr A G 12: 91,505,008 (GRCm39) M649V probably benign Het
Ubr3 A G 2: 69,824,107 (GRCm39) T1440A probably benign Het
Urb2 A G 8: 124,756,831 (GRCm39) D846G probably benign Het
Vmn1r202 T C 13: 22,685,632 (GRCm39) T262A possibly damaging Het
Vmn2r61 G T 7: 41,916,455 (GRCm39) W356L probably damaging Het
Wdr11 T A 7: 129,220,427 (GRCm39) M605K possibly damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L 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
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
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'- CCTAGATCAGAAGCCACAGG -3'
(R):5'- CTCCTTAGGCGTACAGTTGC -3'

Sequencing Primer
(F):5'- GCCACAGGGAAGAATACTGAC -3'
(R):5'- TCTCCAGAAGGTTCACTTATGTG -3'
Posted On 2017-10-10