Incidental Mutation 'R7289:Spata31g1'
ID 566216
Institutional Source Beutler Lab
Gene Symbol Spata31g1
Ensembl Gene ENSMUSG00000028451
Gene Name SPATA31 subfamily G member 1
Synonyms 1700022I11Rik
MMRRC Submission 045396-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R7289 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 42969946-42974325 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 42973252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 862 (I862F)
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: I862F

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000030163
Gene: ENSMUSG00000028451
AA Change: I862F

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 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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 G A 17: 45,818,550 (GRCm39) D112N probably damaging Het
Abca7 T A 10: 79,845,778 (GRCm39) I1580K probably damaging Het
Aebp1 A G 11: 5,815,059 (GRCm39) D234G probably damaging Het
Agap1 T A 1: 89,383,153 (GRCm39) M1K probably null Het
Agrn A T 4: 156,263,389 (GRCm39) L345H probably damaging Het
Amfr A G 8: 94,725,754 (GRCm39) M209T possibly damaging Het
Angel2 G A 1: 190,673,371 (GRCm39) R338H possibly damaging Het
Ankrd27 C T 7: 35,330,674 (GRCm39) A866V probably damaging Het
Apc G A 18: 34,448,324 (GRCm39) R1740Q probably damaging Het
Arhgap32 A T 9: 32,168,233 (GRCm39) S739C possibly damaging Het
Arhgap32 G C 9: 32,168,234 (GRCm39) S739T probably benign Het
Arhgef2 C T 3: 88,543,192 (GRCm39) S418L probably benign Het
Arhgef25 T C 10: 127,019,641 (GRCm39) T472A possibly damaging Het
Atrnl1 C T 19: 57,638,846 (GRCm39) S328F probably benign Het
Bahcc1 C T 11: 120,171,000 (GRCm39) A1514V probably benign Het
Calcoco2 C T 11: 95,990,823 (GRCm39) E305K unknown Het
Ccn1 C T 3: 145,354,428 (GRCm39) W161* probably null Het
Cdc42bpa A T 1: 179,889,362 (GRCm39) K203* probably null Het
Cmc1 A T 9: 117,904,250 (GRCm39) I47N possibly damaging Het
Cntln A G 4: 84,964,540 (GRCm39) E656G possibly damaging Het
Dcun1d3 T C 7: 119,458,864 (GRCm39) K57R possibly damaging Het
Ddx23 T C 15: 98,546,492 (GRCm39) E559G probably damaging Het
Dennd6a G A 14: 26,333,193 (GRCm39) R367Q probably damaging Het
Desi2 A T 1: 178,083,702 (GRCm39) probably benign Het
Dido1 T C 2: 180,301,424 (GRCm39) D2160G unknown Het
Efcab3 T C 11: 104,929,184 (GRCm39) M4838T probably benign Het
Epb41 A G 4: 131,718,520 (GRCm39) probably null Het
Esrrb T A 12: 86,517,331 (GRCm39) probably null Het
Fabp1 C A 6: 71,180,111 (GRCm39) T94N probably benign Het
Fam120a A T 13: 49,045,482 (GRCm39) C785S probably damaging Het
Fam243 T C 16: 92,117,710 (GRCm39) I193V probably damaging Het
Foxc1 A G 13: 31,991,243 (GRCm39) Y18C probably damaging Het
Fshr T C 17: 89,293,272 (GRCm39) T469A probably benign Het
Gm14399 T A 2: 174,972,204 (GRCm39) H517L unknown Het
Gm39115 G T 7: 141,689,297 (GRCm39) Q159K unknown Het
Gm7347 T A 5: 26,262,306 (GRCm39) I72F possibly damaging Het
Hmcn1 A G 1: 150,559,466 (GRCm39) V2395A possibly damaging Het
Ighv5-17 T G 12: 113,822,858 (GRCm39) T88P probably damaging Het
Insm2 T A 12: 55,647,329 (GRCm39) Y358N probably damaging Het
Kazn A T 4: 141,844,486 (GRCm39) L409Q Het
Kcnj5 A C 9: 32,234,045 (GRCm39) L90R probably damaging Het
Kcnv2 A T 19: 27,311,084 (GRCm39) T484S probably damaging Het
Kdm3b T C 18: 34,927,557 (GRCm39) Y140H probably benign Het
Kifbp A C 10: 62,401,895 (GRCm39) C261W probably damaging Het
Krt25 C T 11: 99,212,098 (GRCm39) A180T probably benign Het
Mmp1a A G 9: 7,467,294 (GRCm39) E290G probably damaging Het
Muc21 G A 17: 35,929,761 (GRCm39) A1475V unknown Het
Nr3c1 T C 18: 39,547,654 (GRCm39) T755A probably benign Het
Nr3c1 A T 18: 39,555,786 (GRCm39) I517N probably benign Het
Nxpe2 A G 9: 48,234,339 (GRCm39) probably null Het
Oaz1 C A 10: 80,662,673 (GRCm39) T27K possibly damaging Het
Or4p7 A T 2: 88,222,050 (GRCm39) H153L probably damaging Het
Or51f5 T C 7: 102,424,634 (GRCm39) I301T probably damaging Het
Or5t5 G T 2: 86,617,034 (GRCm39) C320F probably benign Het
Or6z3 T A 7: 6,463,777 (GRCm39) W90R probably benign Het
Or8k21 A G 2: 86,145,369 (GRCm39) M87T probably benign Het
Or8s5 A G 15: 98,237,943 (GRCm39) V309A probably damaging Het
Pafah2 A T 4: 134,147,308 (GRCm39) K319M probably damaging Het
Pask A T 1: 93,259,309 (GRCm39) V236E probably damaging Het
Pcdh1 T C 18: 38,322,966 (GRCm39) T956A probably damaging Het
Pcdhb18 C A 18: 37,623,700 (GRCm39) N343K probably damaging Het
Pcsk2 A T 2: 143,532,343 (GRCm39) I164F probably damaging Het
Phf1 T C 17: 27,154,289 (GRCm39) Y169H probably damaging Het
Pkdrej T A 15: 85,705,301 (GRCm39) I212F probably benign Het
Pnkp T A 7: 44,508,114 (GRCm39) W146R probably damaging Het
Prkcb A T 7: 122,143,910 (GRCm39) I325F probably benign Het
Ptpn21 C T 12: 98,670,450 (GRCm39) D239N probably benign Het
Ptprb A G 10: 116,164,070 (GRCm39) T626A probably damaging Het
Pttg1 T C 11: 43,311,916 (GRCm39) N180D probably benign Het
Raly G A 2: 154,703,774 (GRCm39) R115Q probably damaging Het
Rims2 A T 15: 39,301,114 (GRCm39) M474L probably benign Het
Sash1 A T 10: 8,605,960 (GRCm39) I810N probably damaging Het
Scnn1g T A 7: 121,337,304 (GRCm39) L55* probably null Het
Sema6b A T 17: 56,432,573 (GRCm39) D543E possibly damaging Het
Serpina11 C T 12: 103,952,761 (GRCm39) G5E unknown Het
Sesn3 A T 9: 14,187,848 (GRCm39) M1L probably benign Het
Sez6 T A 11: 77,865,149 (GRCm39) I632N possibly damaging Het
Sgo2b A T 8: 64,394,192 (GRCm39) I49N probably damaging Het
Slc30a2 A T 4: 134,071,524 (GRCm39) I86F possibly damaging Het
Slc38a6 T A 12: 73,333,786 (GRCm39) W30R probably benign Het
Stk31 T G 6: 49,415,393 (GRCm39) V576G probably benign Het
Szt2 G A 4: 118,233,075 (GRCm39) T2297I unknown Het
Tmem208 T C 8: 106,061,418 (GRCm39) F148S possibly damaging Het
Tprg1l A G 4: 154,245,031 (GRCm39) L19P possibly damaging Het
Tubg2 C A 11: 101,050,897 (GRCm39) N207K probably damaging Het
Ube2n G T 10: 95,377,612 (GRCm39) K130N probably benign Het
Usp36 T C 11: 118,164,355 (GRCm39) Y384C probably damaging Het
Vcan A T 13: 89,840,852 (GRCm39) L1564* probably null Het
Xkr6 A T 14: 64,035,748 (GRCm39) D283V unknown Het
Zfp654 T C 16: 64,605,523 (GRCm39) H352R probably benign Het
Zfp819 T A 7: 43,266,506 (GRCm39) C330S probably damaging Het
Zfp970 G T 2: 177,167,086 (GRCm39) C220F 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
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 42,972,379 (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'- TGGACAAAGGATTCCTGGGC -3'
(R):5'- GAGGAAGGTCCCCAAGATTCTAG -3'

Sequencing Primer
(F):5'- ATTCCTGGGCCAATGAACTG -3'
(R):5'- GGTCCCCAAGATTCTAGAGTTAG -3'
Posted On 2019-06-26