Incidental Mutation 'R6208:Spata31d1a'
ID 503284
Institutional Source Beutler Lab
Gene Symbol Spata31d1a
Ensembl Gene ENSMUSG00000050876
Gene Name spermatogenesis associated 31 subfamily D, member 1A
Synonyms 1700013B16Rik, Fam75d3, Fam75d1a
MMRRC Submission 044342-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R6208 (G1)
Quality Score 91.0077
Status Not validated
Chromosome 13
Chromosomal Location 59847897-59854401 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 59848378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Methionine at position 1250 (R1250M)
Ref Sequence ENSEMBL: ENSMUSP00000152919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066510] [ENSMUST00000224469] [ENSMUST00000224982]
AlphaFold E9QA35
Predicted Effect probably damaging
Transcript: ENSMUST00000066510
AA Change: R1250M

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128533
Gene: ENSMUSG00000050876
AA Change: R1250M

DomainStartEndE-ValueType
transmembrane domain 31 53 N/A INTRINSIC
Pfam:DUF4599 66 150 3.7e-25 PFAM
low complexity region 196 217 N/A INTRINSIC
low complexity region 240 266 N/A INTRINSIC
Pfam:FAM75 400 772 2.9e-108 PFAM
low complexity region 1144 1154 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000224469
Predicted Effect probably damaging
Transcript: ENSMUST00000224982
AA Change: R1250M

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225362
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (57/58)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a A T 3: 32,766,043 (GRCm39) I18F probably benign Het
Apol11a C T 15: 77,401,241 (GRCm39) R243C probably damaging Het
Asap3 A G 4: 135,968,508 (GRCm39) M687V probably benign Het
Axdnd1 C T 1: 156,220,426 (GRCm39) probably benign Het
Baz2b A G 2: 59,755,150 (GRCm39) F1026S probably damaging Het
Bsg T C 10: 79,544,672 (GRCm39) L70P probably damaging Het
Col10a1 A G 10: 34,270,582 (GRCm39) N185D possibly damaging Het
Col6a2 T A 10: 76,450,891 (GRCm39) N50I possibly damaging Het
Cux2 G A 5: 121,998,885 (GRCm39) P1352S possibly damaging Het
Defa25 A G 8: 21,575,197 (GRCm39) probably null Het
Emc1 G T 4: 139,081,582 (GRCm39) R70L probably damaging Het
Fat1 T C 8: 45,480,650 (GRCm39) F3028S probably damaging Het
Fhit T C 14: 9,573,435 (GRCm38) E205G probably benign Het
Gaa C A 11: 119,171,997 (GRCm39) A700D probably benign Het
Gm20830 T G Y: 6,916,792 (GRCm39) E109A probably benign Homo
Grm1 A T 10: 10,595,690 (GRCm39) F646Y probably damaging Het
Hp1bp3 A G 4: 137,944,481 (GRCm39) probably benign Het
Lce1d G A 3: 92,593,312 (GRCm39) P34S unknown Het
Lpar1 G A 4: 58,504,630 (GRCm39) Q13* probably null Het
Lrrc61 C T 6: 48,545,839 (GRCm39) R221* probably null Het
Map2 A G 1: 66,470,749 (GRCm39) N328D probably damaging Het
Mndal T A 1: 173,684,988 (GRCm39) D527V possibly damaging Het
Mycbp2 T G 14: 103,532,664 (GRCm39) N430T probably benign Het
Myo1e A G 9: 70,283,887 (GRCm39) Y861C probably damaging Het
Nav2 A G 7: 49,213,851 (GRCm39) T1622A probably damaging Het
Nom1 A T 5: 29,654,617 (GRCm39) H773L possibly damaging Het
Npc2 G T 12: 84,803,919 (GRCm39) P144Q probably damaging Het
Npnt A G 3: 132,655,774 (GRCm39) probably benign Het
Nxpe4 A T 9: 48,304,678 (GRCm39) Y255F probably benign Het
Obscn G A 11: 58,958,474 (GRCm39) A3769V possibly damaging Het
Optc T C 1: 133,832,737 (GRCm39) D121G probably damaging Het
Pard6a T C 8: 106,428,866 (GRCm39) F26L probably damaging Het
Pcdhga4 T A 18: 37,819,762 (GRCm39) I437N probably damaging Het
Phf12 G T 11: 77,914,417 (GRCm39) V71F probably damaging Het
Phf21b T A 15: 84,679,317 (GRCm39) S282C probably damaging Het
Pou5f1 T C 17: 35,821,357 (GRCm39) F323S possibly damaging Het
Psmd5 A T 2: 34,757,023 (GRCm39) I67N probably damaging Het
Pyroxd1 A G 6: 142,303,182 (GRCm39) K273R probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpusd1 A T 17: 25,949,352 (GRCm39) H174L probably damaging Het
Ryr2 T C 13: 11,910,106 (GRCm39) K94R probably benign Het
Scn2b A G 9: 45,029,328 (GRCm39) R3G probably benign Het
Sf3b2 A T 19: 5,325,126 (GRCm39) M782K possibly damaging Het
Skint7 A G 4: 111,842,073 (GRCm39) probably null Het
Slc43a1 A G 2: 84,687,184 (GRCm39) I319V possibly damaging Het
Snupn T A 9: 56,890,247 (GRCm39) M356K probably damaging Het
Sprr2h T C 3: 92,294,216 (GRCm39) V21A unknown Het
Srpra A G 9: 35,127,291 (GRCm39) T614A possibly damaging Het
Stk36 A T 1: 74,650,591 (GRCm39) Q327L probably benign Het
Syne3 A G 12: 104,909,622 (GRCm39) I738T probably benign Het
Tcea3 A T 4: 135,975,360 (GRCm39) M1L probably damaging Het
Tead2 G T 7: 44,867,526 (GRCm39) R85L probably damaging Het
Thap7 T C 16: 17,346,300 (GRCm39) N228D possibly damaging Het
Trip11 T A 12: 101,865,154 (GRCm39) E173V probably damaging Het
Ttc38 T A 15: 85,725,698 (GRCm39) M187K possibly damaging Het
Vmn1r193 T A 13: 22,403,138 (GRCm39) T285S possibly damaging Het
Vmn2r106 T C 17: 20,488,591 (GRCm39) T603A probably damaging Het
Vps39 A T 2: 120,163,897 (GRCm39) M355K probably damaging Het
Wnt5b G T 6: 119,423,473 (GRCm39) L51I probably damaging Het
Xxylt1 A G 16: 30,826,626 (GRCm39) Y230H probably benign Het
Other mutations in Spata31d1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00915:Spata31d1a APN 13 59,849,999 (GRCm39) missense probably benign 0.27
IGL01397:Spata31d1a APN 13 59,849,552 (GRCm39) missense probably damaging 0.99
IGL01448:Spata31d1a APN 13 59,849,373 (GRCm39) missense probably benign 0.06
IGL02715:Spata31d1a APN 13 59,851,549 (GRCm39) missense probably benign 0.44
IGL02983:Spata31d1a APN 13 59,851,508 (GRCm39) missense possibly damaging 0.65
IGL03224:Spata31d1a APN 13 59,848,840 (GRCm39) missense possibly damaging 0.85
PIT1430001:Spata31d1a UTSW 13 59,849,010 (GRCm39) missense probably benign
R0302:Spata31d1a UTSW 13 59,850,964 (GRCm39) missense probably benign
R0387:Spata31d1a UTSW 13 59,851,315 (GRCm39) missense probably damaging 0.99
R0464:Spata31d1a UTSW 13 59,849,573 (GRCm39) missense possibly damaging 0.85
R0606:Spata31d1a UTSW 13 59,850,245 (GRCm39) missense probably benign 0.03
R0617:Spata31d1a UTSW 13 59,850,073 (GRCm39) missense possibly damaging 0.53
R0691:Spata31d1a UTSW 13 59,848,199 (GRCm39) missense possibly damaging 0.93
R0746:Spata31d1a UTSW 13 59,850,077 (GRCm39) missense possibly damaging 0.95
R1019:Spata31d1a UTSW 13 59,850,182 (GRCm39) missense probably benign
R1397:Spata31d1a UTSW 13 59,852,853 (GRCm39) splice site probably benign
R1543:Spata31d1a UTSW 13 59,850,056 (GRCm39) missense probably benign
R1619:Spata31d1a UTSW 13 59,850,247 (GRCm39) nonsense probably null
R1799:Spata31d1a UTSW 13 59,851,216 (GRCm39) missense probably benign
R1820:Spata31d1a UTSW 13 59,849,069 (GRCm39) missense possibly damaging 0.86
R1885:Spata31d1a UTSW 13 59,849,821 (GRCm39) missense probably damaging 0.99
R1909:Spata31d1a UTSW 13 59,850,509 (GRCm39) missense probably damaging 0.99
R2012:Spata31d1a UTSW 13 59,850,370 (GRCm39) missense possibly damaging 0.93
R2099:Spata31d1a UTSW 13 59,853,885 (GRCm39) missense probably damaging 0.97
R2132:Spata31d1a UTSW 13 59,848,857 (GRCm39) missense probably damaging 0.96
R2224:Spata31d1a UTSW 13 59,851,529 (GRCm39) missense probably benign
R2225:Spata31d1a UTSW 13 59,851,529 (GRCm39) missense probably benign
R2226:Spata31d1a UTSW 13 59,851,529 (GRCm39) missense probably benign
R2358:Spata31d1a UTSW 13 59,851,702 (GRCm39) missense probably benign 0.00
R2495:Spata31d1a UTSW 13 59,849,807 (GRCm39) missense possibly damaging 0.93
R3081:Spata31d1a UTSW 13 59,850,907 (GRCm39) missense probably benign 0.15
R3151:Spata31d1a UTSW 13 59,849,180 (GRCm39) missense probably benign 0.06
R3971:Spata31d1a UTSW 13 59,849,971 (GRCm39) missense possibly damaging 0.85
R4156:Spata31d1a UTSW 13 59,852,861 (GRCm39) missense possibly damaging 0.92
R4760:Spata31d1a UTSW 13 59,849,459 (GRCm39) missense probably damaging 1.00
R4767:Spata31d1a UTSW 13 59,848,969 (GRCm39) missense probably benign 0.03
R4877:Spata31d1a UTSW 13 59,850,337 (GRCm39) missense probably damaging 0.99
R4894:Spata31d1a UTSW 13 59,849,542 (GRCm39) missense probably damaging 0.98
R4961:Spata31d1a UTSW 13 59,849,716 (GRCm39) missense possibly damaging 0.86
R4990:Spata31d1a UTSW 13 59,850,965 (GRCm39) missense probably benign 0.00
R4991:Spata31d1a UTSW 13 59,850,965 (GRCm39) missense probably benign 0.00
R4992:Spata31d1a UTSW 13 59,850,965 (GRCm39) missense probably benign 0.00
R5088:Spata31d1a UTSW 13 59,848,966 (GRCm39) splice site probably null
R5094:Spata31d1a UTSW 13 59,852,858 (GRCm39) critical splice donor site probably null
R5330:Spata31d1a UTSW 13 59,848,217 (GRCm39) missense possibly damaging 0.86
R5587:Spata31d1a UTSW 13 59,850,432 (GRCm39) missense probably damaging 0.96
R5832:Spata31d1a UTSW 13 59,849,380 (GRCm39) missense probably damaging 0.98
R6073:Spata31d1a UTSW 13 59,850,808 (GRCm39) missense probably damaging 0.98
R6224:Spata31d1a UTSW 13 59,854,134 (GRCm39) start gained probably benign
R6250:Spata31d1a UTSW 13 59,849,615 (GRCm39) missense possibly damaging 0.93
R6359:Spata31d1a UTSW 13 59,850,920 (GRCm39) missense probably benign
R6806:Spata31d1a UTSW 13 59,851,032 (GRCm39) missense probably benign
R6848:Spata31d1a UTSW 13 59,849,777 (GRCm39) missense possibly damaging 0.91
R6851:Spata31d1a UTSW 13 59,851,725 (GRCm39) missense unknown
R6985:Spata31d1a UTSW 13 59,850,907 (GRCm39) missense probably benign 0.15
R7007:Spata31d1a UTSW 13 59,851,448 (GRCm39) missense probably benign
R7037:Spata31d1a UTSW 13 59,848,138 (GRCm39) missense possibly damaging 0.96
R7124:Spata31d1a UTSW 13 59,850,301 (GRCm39) missense probably damaging 0.99
R7271:Spata31d1a UTSW 13 59,849,913 (GRCm39) missense probably benign 0.00
R7346:Spata31d1a UTSW 13 59,851,015 (GRCm39) missense probably benign
R7556:Spata31d1a UTSW 13 59,849,798 (GRCm39) missense probably benign 0.00
R7581:Spata31d1a UTSW 13 59,851,953 (GRCm39) critical splice donor site probably null
R7891:Spata31d1a UTSW 13 59,848,139 (GRCm39) missense possibly damaging 0.96
R7995:Spata31d1a UTSW 13 59,848,924 (GRCm39) missense probably benign 0.06
R8379:Spata31d1a UTSW 13 59,850,668 (GRCm39) missense probably benign 0.00
R8497:Spata31d1a UTSW 13 59,848,988 (GRCm39) missense possibly damaging 0.91
R8837:Spata31d1a UTSW 13 59,850,596 (GRCm39) missense possibly damaging 0.92
R9108:Spata31d1a UTSW 13 59,850,982 (GRCm39) missense probably benign 0.00
Z1177:Spata31d1a UTSW 13 59,850,899 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTTCCTGTAGGGCCACACC -3'
(R):5'- TCAGGAAAATCAGTTCACCAGC -3'

Sequencing Primer
(F):5'- CACTGGAGAGCAGGAACCTCTG -3'
(R):5'- CCAGGTGAAGGGCTTCTG -3'
Posted On 2018-02-27