Incidental Mutation 'R8347:Spata31d1e'
ID 645325
Institutional Source Beutler Lab
Gene Symbol Spata31d1e
Ensembl Gene ENSMUSG00000051054
Gene Name spermatogenesis associated 31 subfamily D, member 1E
Synonyms 1700014D04Rik
MMRRC Submission 067867-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R8347 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 59740842-59746752 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59742236 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 590 (D590V)
Ref Sequence ENSEMBL: ENSMUSP00000136424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055343] [ENSMUST00000178508] [ENSMUST00000180139]
AlphaFold J3QMS2
Predicted Effect possibly damaging
Transcript: ENSMUST00000055343
AA Change: D172V

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000052403
Gene: ENSMUSG00000051054
AA Change: D172V

DomainStartEndE-ValueType
low complexity region 204 215 N/A INTRINSIC
low complexity region 253 264 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178508
SMART Domains Protein: ENSMUSP00000136897
Gene: ENSMUSG00000051054

DomainStartEndE-ValueType
Pfam:FAM75 66 99 7.4e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000180139
AA Change: D590V

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000136424
Gene: ENSMUSG00000051054
AA Change: D590V

DomainStartEndE-ValueType
Pfam:FAM75 66 439 6.9e-97 PFAM
low complexity region 622 633 N/A INTRINSIC
low complexity region 671 693 N/A INTRINSIC
low complexity region 737 763 N/A INTRINSIC
low complexity region 824 835 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T A 5: 138,562,891 (GRCm38) I170L probably benign Het
Adamts15 C T 9: 30,902,550 (GRCm38) R773Q probably benign Het
Ankib1 A G 5: 3,747,065 (GRCm38) L249P probably damaging Het
Cabin1 A G 10: 75,742,367 (GRCm38) F499L probably damaging Het
Cdhr17 G A 5: 16,801,574 (GRCm38) M96I probably benign Het
Clec12b C T 6: 129,380,487 (GRCm38) probably null Het
Col23a1 G A 11: 51,571,256 (GRCm38) G373D probably damaging Het
Cse1l C T 2: 166,927,585 (GRCm38) T304I possibly damaging Het
D6Wsu163e T A 6: 126,955,288 (GRCm38) L330* probably null Het
Dbi A C 1: 120,120,820 (GRCm38) L32R possibly damaging Het
Dennd2c A G 3: 103,157,709 (GRCm38) Y716C probably damaging Het
Dnah5 G A 15: 28,236,666 (GRCm38) M379I possibly damaging Het
Dpys T C 15: 39,857,313 (GRCm38) D17G probably benign Het
Dync2h1 C T 9: 7,116,578 (GRCm38) S2319N possibly damaging Het
Dyrk2 T C 10: 118,859,983 (GRCm38) K457E probably damaging Het
Efs A G 14: 54,919,784 (GRCm38) C357R probably benign Het
Egfr T A 11: 16,878,174 (GRCm38) W516R probably damaging Het
Folh1 T A 7: 86,729,118 (GRCm38) R529* probably null Het
Fsip2 A C 2: 82,987,854 (GRCm38) I4644L probably benign Het
Garnl3 T C 2: 33,085,891 (GRCm38) Y66C probably damaging Het
Gli3 T C 13: 15,723,525 (GRCm38) L730P probably damaging Het
Gm19668 T C 10: 77,798,387 (GRCm38) *249W probably null Het
Ighv2-6-8 T C 12: 113,796,327 (GRCm38) D54G probably benign Het
Irs2 C A 8: 11,008,000 (GRCm38) S144I possibly damaging Het
Itgb5 T C 16: 33,940,678 (GRCm38) C628R probably damaging Het
Kcnh4 A T 11: 100,757,749 (GRCm38) V43D probably damaging Het
Krtap16-3 A T 16: 88,962,619 (GRCm38) Y69N unknown Het
Lcn12 A C 2: 25,492,033 (GRCm38) D176E possibly damaging Het
Lilrb4b T A 10: 51,481,754 (GRCm38) F181L probably damaging Het
Med13l T A 5: 118,742,597 (GRCm38) H1251Q probably benign Het
Nppb C A 4: 147,986,299 (GRCm38) L44M probably damaging Het
Nutm2 T C 13: 50,472,337 (GRCm38) V320A probably benign Het
Or4b1b A T 2: 90,281,676 (GRCm38) W300R probably benign Het
Or52a24 A G 7: 103,731,943 (GRCm38) S6G probably benign Het
Or5ae2 C T 7: 84,856,755 (GRCm38) P131S probably damaging Het
Or5ak4 T A 2: 85,331,703 (GRCm38) H65L probably damaging Het
Padi6 T C 4: 140,735,408 (GRCm38) M301V probably benign Het
Pappa G A 4: 65,327,065 (GRCm38) R1530Q probably damaging Het
Pcgf6 C T 19: 47,045,838 (GRCm38) D255N possibly damaging Het
Pgap3 TCAGCAGCAGCAGCAGCAG TCAGCAGCAGCAGCAG 11: 98,390,749 (GRCm38) probably benign Het
Phip A G 9: 82,908,763 (GRCm38) I710T probably benign Het
Pla2r1 A T 2: 60,534,903 (GRCm38) Y108N probably damaging Het
Plat G T 8: 22,772,232 (GRCm38) G91W probably damaging Het
Rint1 C G 5: 23,811,772 (GRCm38) L512V probably damaging Het
Sdad1 A C 5: 92,298,229 (GRCm38) F282L probably benign Het
Sirt5 G T 13: 43,380,501 (GRCm38) A189S probably benign Het
Slc14a1 T C 18: 78,111,431 (GRCm38) T247A probably benign Het
Slc22a6 C G 19: 8,621,805 (GRCm38) R267G probably damaging Het
Slfn3 A G 11: 83,213,589 (GRCm38) K429E possibly damaging Het
Spag17 T C 3: 100,027,641 (GRCm38) F721S probably benign Het
St3gal1 G A 15: 67,113,662 (GRCm38) R48C probably damaging Het
Sult2a6 A G 7: 14,225,958 (GRCm38) Y217H probably benign Het
Synj2 A G 17: 6,009,785 (GRCm38) N394S probably damaging Het
Telo2 A T 17: 25,104,637 (GRCm38) Y605* probably null Het
Trank1 T A 9: 111,367,249 (GRCm38) L1447Q probably damaging Het
Trim56 A G 5: 137,112,592 (GRCm38) L690P probably damaging Het
Trmt13 T C 3: 116,582,768 (GRCm38) T325A probably benign Het
Ttn T A 2: 76,709,467 (GRCm38) T34392S probably benign Het
Uncx A G 5: 139,546,816 (GRCm38) E212G probably damaging Het
Ush2a A G 1: 188,947,084 (GRCm38) T4830A probably benign Het
Usp34 C A 11: 23,412,345 (GRCm38) T1616N Het
Vars1 C T 17: 35,015,977 (GRCm38) L1261F possibly damaging Het
Vmn1r223 T C 13: 23,249,850 (GRCm38) S205P probably damaging Het
Vmn2r118 A T 17: 55,610,423 (GRCm38) I363K possibly damaging Het
Vmn2r69 A T 7: 85,415,630 (GRCm38) M16K probably benign Het
Wdr62 G A 7: 30,262,703 (GRCm38) T428I possibly damaging Het
Yeats4 A T 10: 117,217,469 (GRCm38) L129Q probably benign Het
Zfp423 T C 8: 87,783,156 (GRCm38) R187G probably damaging Het
Zfp853 A T 5: 143,288,947 (GRCm38) L321Q unknown Het
Other mutations in Spata31d1e
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB010:Spata31d1e UTSW 13 59,743,751 (GRCm38) missense probably damaging 1.00
BB020:Spata31d1e UTSW 13 59,743,751 (GRCm38) missense probably damaging 1.00
R0838:Spata31d1e UTSW 13 59,742,468 (GRCm38) missense possibly damaging 0.75
R1483:Spata31d1e UTSW 13 59,742,903 (GRCm38) missense probably damaging 0.99
R1794:Spata31d1e UTSW 13 59,742,620 (GRCm38) missense probably benign 0.22
R1842:Spata31d1e UTSW 13 59,742,506 (GRCm38) missense probably damaging 1.00
R1969:Spata31d1e UTSW 13 59,742,785 (GRCm38) missense probably damaging 0.98
R2027:Spata31d1e UTSW 13 59,742,587 (GRCm38) missense possibly damaging 0.48
R2206:Spata31d1e UTSW 13 59,743,106 (GRCm38) missense probably benign 0.40
R2207:Spata31d1e UTSW 13 59,743,106 (GRCm38) missense probably benign 0.40
R2882:Spata31d1e UTSW 13 59,742,943 (GRCm38) missense probably benign 0.00
R3508:Spata31d1e UTSW 13 59,742,505 (GRCm38) nonsense probably null
R4447:Spata31d1e UTSW 13 59,742,198 (GRCm38) missense probably benign 0.03
R4560:Spata31d1e UTSW 13 59,741,757 (GRCm38) missense probably damaging 1.00
R4846:Spata31d1e UTSW 13 59,742,233 (GRCm38) missense probably benign 0.00
R5186:Spata31d1e UTSW 13 59,743,739 (GRCm38) missense probably damaging 1.00
R5510:Spata31d1e UTSW 13 59,742,420 (GRCm38) splice site probably null
R5580:Spata31d1e UTSW 13 59,742,256 (GRCm38) missense probably benign 0.00
R5752:Spata31d1e UTSW 13 59,743,202 (GRCm38) missense probably damaging 0.96
R6266:Spata31d1e UTSW 13 59,742,312 (GRCm38) missense probably benign 0.33
R6267:Spata31d1e UTSW 13 59,742,683 (GRCm38) missense probably benign 0.13
R6296:Spata31d1e UTSW 13 59,742,683 (GRCm38) missense probably benign 0.13
R6939:Spata31d1e UTSW 13 59,742,058 (GRCm38) missense possibly damaging 0.75
R6973:Spata31d1e UTSW 13 59,742,707 (GRCm38) missense probably benign 0.14
R7107:Spata31d1e UTSW 13 59,742,183 (GRCm38) nonsense probably null
R7123:Spata31d1e UTSW 13 59,743,440 (GRCm38) nonsense probably null
R7254:Spata31d1e UTSW 13 59,741,976 (GRCm38) missense probably benign 0.01
R7354:Spata31d1e UTSW 13 59,741,834 (GRCm38) nonsense probably null
R7536:Spata31d1e UTSW 13 59,741,742 (GRCm38) missense probably damaging 0.99
R7729:Spata31d1e UTSW 13 59,741,623 (GRCm38) missense not run
R7912:Spata31d1e UTSW 13 59,742,515 (GRCm38) missense probably damaging 1.00
R7933:Spata31d1e UTSW 13 59,743,751 (GRCm38) missense probably damaging 1.00
R8029:Spata31d1e UTSW 13 59,742,377 (GRCm38) missense possibly damaging 0.79
R8370:Spata31d1e UTSW 13 59,743,952 (GRCm38) missense probably benign
R8395:Spata31d1e UTSW 13 59,741,726 (GRCm38) missense probably benign 0.00
R8508:Spata31d1e UTSW 13 59,743,598 (GRCm38) missense probably benign 0.02
R8930:Spata31d1e UTSW 13 59,742,201 (GRCm38) missense possibly damaging 0.76
R8932:Spata31d1e UTSW 13 59,742,201 (GRCm38) missense possibly damaging 0.76
R9127:Spata31d1e UTSW 13 59,743,014 (GRCm38) missense probably benign 0.00
R9262:Spata31d1e UTSW 13 59,742,588 (GRCm38) missense probably benign 0.00
R9401:Spata31d1e UTSW 13 59,742,198 (GRCm38) missense probably benign 0.03
R9514:Spata31d1e UTSW 13 59,742,992 (GRCm38) missense probably damaging 0.96
R9786:Spata31d1e UTSW 13 59,742,684 (GRCm38) missense possibly damaging 0.84
X0024:Spata31d1e UTSW 13 59,742,725 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCATCTCTCTGAGCATGTTGGG -3'
(R):5'- TGAAAAGTAACTTTCCCAGTCCCC -3'

Sequencing Primer
(F):5'- AGCATGTTGGGTGTCACC -3'
(R):5'- GTAACTTTCCCAGTCCCCTCAGG -3'
Posted On 2020-09-02