Incidental Mutation 'IGL02078:Spata31g1'
ID 186035
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata31g1
Ensembl Gene ENSMUSG00000028451
Gene Name SPATA31 subfamily G member 1
Synonyms 1700022I11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL02078
Quality Score
Status
Chromosome 4
Chromosomal Location 42969946-42974325 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 42972685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 673 (K673Q)
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 possibly damaging
Transcript: ENSMUST00000030163
AA Change: K673Q

PolyPhen 2 Score 0.709 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000030163
Gene: ENSMUSG00000028451
AA Change: K673Q

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T C 15: 59,888,179 (GRCm39) D87G probably benign Het
Acap1 C T 11: 69,786,112 (GRCm39) R18Q probably damaging Het
Atp1a1 A C 3: 101,499,179 (GRCm39) V140G probably damaging Het
Bmpr1b G A 3: 141,576,498 (GRCm39) P112S possibly damaging Het
Chst8 T A 7: 34,374,759 (GRCm39) N360I possibly damaging Het
Cldn23 A T 8: 36,293,359 (GRCm39) V43E possibly damaging Het
Clta T C 4: 44,030,232 (GRCm39) F168S probably damaging Het
Cyp2c40 T C 19: 39,755,926 (GRCm39) I463V probably benign Het
E2f2 A G 4: 135,920,323 (GRCm39) D436G probably damaging Het
Fbxo24 T G 5: 137,622,611 (GRCm39) T52P probably damaging Het
Gria4 G A 9: 4,793,878 (GRCm39) A60V probably damaging Het
Grm1 C T 10: 10,565,354 (GRCm39) V985M probably benign Het
Hexa A G 9: 59,464,586 (GRCm39) T159A probably benign Het
Inf2 T A 12: 112,568,048 (GRCm39) V200E probably damaging Het
Kif20b T A 19: 34,913,044 (GRCm39) V319E probably damaging Het
Klhl10 A G 11: 100,336,577 (GRCm39) D188G probably benign Het
Mobp G A 9: 119,996,980 (GRCm39) R37H probably damaging Het
Mybpc2 T A 7: 44,153,204 (GRCm39) D1086V probably damaging Het
Nadk A C 4: 155,663,860 (GRCm39) probably benign Het
Or7g33 T A 9: 19,448,749 (GRCm39) H159L probably benign Het
Per1 A G 11: 68,995,125 (GRCm39) E619G probably damaging Het
Rab3gap1 G A 1: 127,796,652 (GRCm39) probably benign Het
Rimkla A G 4: 119,325,344 (GRCm39) L355P probably damaging Het
Rnf139 A G 15: 58,771,880 (GRCm39) D635G possibly damaging Het
Sall1 T A 8: 89,757,003 (GRCm39) N1034Y probably damaging Het
Serpinb13 A T 1: 106,926,688 (GRCm39) Q228L probably damaging Het
Sin3b G T 8: 73,480,208 (GRCm39) M903I possibly damaging Het
Slco1a5 A T 6: 142,200,172 (GRCm39) M204K probably benign Het
Smo A G 6: 29,754,707 (GRCm39) D259G possibly damaging Het
Sult2a4 T C 7: 13,723,469 (GRCm39) I15M probably benign Het
Ttn T A 2: 76,772,785 (GRCm39) probably null Het
Wdtc1 C A 4: 133,033,271 (GRCm39) D176Y 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
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
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
Posted On 2014-05-07