Incidental Mutation 'R4410:Spag7'
ID 327872
Institutional Source Beutler Lab
Gene Symbol Spag7
Ensembl Gene ENSMUSG00000018287
Gene Name sperm associated antigen 7
Synonyms FSA-1, Fsa1l
MMRRC Submission 041692-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4410 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 70554597-70560242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70555688 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 83 (D83G)
Ref Sequence ENSEMBL: ENSMUSP00000018431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018431] [ENSMUST00000036299] [ENSMUST00000072841] [ENSMUST00000100933] [ENSMUST00000108544] [ENSMUST00000108545] [ENSMUST00000108548] [ENSMUST00000129434] [ENSMUST00000119120] [ENSMUST00000157027] [ENSMUST00000120261] [ENSMUST00000170716] [ENSMUST00000145823]
AlphaFold Q7TNE3
Predicted Effect probably damaging
Transcript: ENSMUST00000018431
AA Change: D83G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018431
Gene: ENSMUSG00000018287
AA Change: D83G

DomainStartEndE-ValueType
R3H 31 109 3.85e-21 SMART
low complexity region 130 152 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000036299
SMART Domains Protein: ENSMUSP00000043792
Gene: ENSMUSG00000040712

DomainStartEndE-ValueType
CG-1 34 155 1.07e-83 SMART
low complexity region 232 243 N/A INTRINSIC
low complexity region 273 291 N/A INTRINSIC
low complexity region 294 305 N/A INTRINSIC
low complexity region 314 329 N/A INTRINSIC
low complexity region 370 380 N/A INTRINSIC
low complexity region 417 435 N/A INTRINSIC
low complexity region 461 485 N/A INTRINSIC
low complexity region 501 514 N/A INTRINSIC
Pfam:TIG 541 621 6.2e-13 PFAM
low complexity region 660 679 N/A INTRINSIC
Blast:ANK 717 750 7e-12 BLAST
SCOP:d1myo__ 718 816 2e-15 SMART
Blast:ANK 762 792 4e-11 BLAST
low complexity region 829 839 N/A INTRINSIC
low complexity region 844 853 N/A INTRINSIC
low complexity region 861 882 N/A INTRINSIC
IQ 1053 1075 2.59e2 SMART
IQ 1076 1092 2.38e2 SMART
IQ 1106 1128 5.42e0 SMART
low complexity region 1140 1157 N/A INTRINSIC
low complexity region 1180 1190 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000072841
SMART Domains Protein: ENSMUSP00000072620
Gene: ENSMUSG00000060600

DomainStartEndE-ValueType
Enolase_N 3 134 6.26e-91 SMART
Enolase_C 142 431 8.8e-200 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000100933
SMART Domains Protein: ENSMUSP00000098493
Gene: ENSMUSG00000040712

DomainStartEndE-ValueType
CG-1 36 152 8.08e-88 SMART
low complexity region 229 240 N/A INTRINSIC
low complexity region 270 288 N/A INTRINSIC
low complexity region 291 302 N/A INTRINSIC
low complexity region 311 326 N/A INTRINSIC
low complexity region 367 377 N/A INTRINSIC
low complexity region 414 432 N/A INTRINSIC
low complexity region 458 482 N/A INTRINSIC
low complexity region 498 511 N/A INTRINSIC
Pfam:TIG 538 618 1.2e-8 PFAM
low complexity region 657 676 N/A INTRINSIC
Blast:ANK 714 747 8e-12 BLAST
SCOP:d1myo__ 715 813 2e-15 SMART
Blast:ANK 759 789 4e-11 BLAST
low complexity region 826 836 N/A INTRINSIC
low complexity region 841 850 N/A INTRINSIC
low complexity region 858 879 N/A INTRINSIC
IQ 1050 1072 2.59e2 SMART
IQ 1073 1095 1.18e1 SMART
IQ 1096 1118 5.42e0 SMART
low complexity region 1130 1147 N/A INTRINSIC
low complexity region 1170 1180 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108544
SMART Domains Protein: ENSMUSP00000104184
Gene: ENSMUSG00000040712

DomainStartEndE-ValueType
CG-1 34 150 8.08e-88 SMART
low complexity region 227 238 N/A INTRINSIC
low complexity region 268 286 N/A INTRINSIC
low complexity region 289 300 N/A INTRINSIC
low complexity region 309 324 N/A INTRINSIC
low complexity region 365 375 N/A INTRINSIC
low complexity region 412 430 N/A INTRINSIC
low complexity region 456 480 N/A INTRINSIC
low complexity region 496 509 N/A INTRINSIC
Pfam:TIG 536 616 1.2e-8 PFAM
low complexity region 655 674 N/A INTRINSIC
Blast:ANK 712 745 7e-12 BLAST
SCOP:d1myo__ 713 811 2e-15 SMART
Blast:ANK 757 787 4e-11 BLAST
low complexity region 824 834 N/A INTRINSIC
low complexity region 839 848 N/A INTRINSIC
low complexity region 856 877 N/A INTRINSIC
IQ 1048 1070 2.59e2 SMART
IQ 1071 1087 2.38e2 SMART
IQ 1101 1123 5.42e0 SMART
low complexity region 1135 1152 N/A INTRINSIC
low complexity region 1175 1185 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108545
SMART Domains Protein: ENSMUSP00000104185
Gene: ENSMUSG00000040712

DomainStartEndE-ValueType
CG-1 34 126 3.23e-55 SMART
low complexity region 203 214 N/A INTRINSIC
low complexity region 244 262 N/A INTRINSIC
low complexity region 265 276 N/A INTRINSIC
low complexity region 285 300 N/A INTRINSIC
low complexity region 341 351 N/A INTRINSIC
low complexity region 388 406 N/A INTRINSIC
low complexity region 432 456 N/A INTRINSIC
low complexity region 472 485 N/A INTRINSIC
Pfam:TIG 512 592 1.1e-8 PFAM
low complexity region 631 650 N/A INTRINSIC
Blast:ANK 688 721 7e-12 BLAST
SCOP:d1myo__ 689 787 2e-15 SMART
Blast:ANK 733 763 5e-13 BLAST
low complexity region 800 810 N/A INTRINSIC
low complexity region 815 824 N/A INTRINSIC
low complexity region 832 853 N/A INTRINSIC
IQ 1024 1046 2.59e2 SMART
IQ 1047 1069 1.18e1 SMART
IQ 1070 1092 5.42e0 SMART
low complexity region 1104 1121 N/A INTRINSIC
low complexity region 1144 1154 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108548
SMART Domains Protein: ENSMUSP00000104188
Gene: ENSMUSG00000060600

DomainStartEndE-ValueType
Enolase_N 3 134 6.26e-91 SMART
Enolase_C 142 431 8.8e-200 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000129434
AA Change: D73G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115098
Gene: ENSMUSG00000018287
AA Change: D73G

DomainStartEndE-ValueType
R3H 22 99 3.06e-15 SMART
low complexity region 120 142 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124691
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137691
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179738
Predicted Effect probably benign
Transcript: ENSMUST00000119120
SMART Domains Protein: ENSMUSP00000113847
Gene: ENSMUSG00000040712

DomainStartEndE-ValueType
CG-1 34 150 8.08e-88 SMART
low complexity region 227 238 N/A INTRINSIC
low complexity region 268 286 N/A INTRINSIC
low complexity region 289 300 N/A INTRINSIC
low complexity region 309 324 N/A INTRINSIC
low complexity region 365 375 N/A INTRINSIC
low complexity region 412 430 N/A INTRINSIC
low complexity region 456 480 N/A INTRINSIC
low complexity region 496 509 N/A INTRINSIC
Pfam:TIG 536 616 1.1e-8 PFAM
low complexity region 655 674 N/A INTRINSIC
Blast:ANK 712 745 7e-12 BLAST
SCOP:d1myo__ 713 811 2e-15 SMART
Blast:ANK 757 787 8e-13 BLAST
low complexity region 824 834 N/A INTRINSIC
low complexity region 839 848 N/A INTRINSIC
low complexity region 856 877 N/A INTRINSIC
IQ 1048 1070 2.59e2 SMART
IQ 1071 1093 1.18e1 SMART
IQ 1094 1116 5.42e0 SMART
low complexity region 1128 1145 N/A INTRINSIC
low complexity region 1168 1178 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000157027
SMART Domains Protein: ENSMUSP00000115726
Gene: ENSMUSG00000060600

DomainStartEndE-ValueType
Enolase_N 3 134 6.26e-91 SMART
Pfam:Enolase_C 142 196 1e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120261
SMART Domains Protein: ENSMUSP00000113667
Gene: ENSMUSG00000040712

DomainStartEndE-ValueType
CG-1 34 126 3.23e-55 SMART
low complexity region 203 214 N/A INTRINSIC
low complexity region 244 262 N/A INTRINSIC
low complexity region 265 276 N/A INTRINSIC
low complexity region 285 300 N/A INTRINSIC
low complexity region 341 351 N/A INTRINSIC
low complexity region 388 406 N/A INTRINSIC
low complexity region 432 456 N/A INTRINSIC
low complexity region 472 485 N/A INTRINSIC
Pfam:TIG 512 592 1e-8 PFAM
low complexity region 631 650 N/A INTRINSIC
Blast:ANK 688 721 7e-12 BLAST
SCOP:d1myo__ 689 787 2e-15 SMART
Blast:ANK 733 763 7e-13 BLAST
low complexity region 800 810 N/A INTRINSIC
low complexity region 815 824 N/A INTRINSIC
low complexity region 832 853 N/A INTRINSIC
IQ 1024 1046 2.59e2 SMART
IQ 1047 1063 2.38e2 SMART
IQ 1077 1099 5.42e0 SMART
low complexity region 1111 1128 N/A INTRINSIC
low complexity region 1151 1161 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179055
Predicted Effect probably benign
Transcript: ENSMUST00000170716
SMART Domains Protein: ENSMUSP00000128714
Gene: ENSMUSG00000060600

DomainStartEndE-ValueType
Enolase_N 3 134 6.26e-91 SMART
Enolase_C 142 431 8.8e-200 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145823
SMART Domains Protein: ENSMUSP00000123602
Gene: ENSMUSG00000040712

DomainStartEndE-ValueType
CG-1 34 137 2.55e-44 SMART
low complexity region 146 165 N/A INTRINSIC
Meta Mutation Damage Score 0.9491 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 96% (46/48)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap39 A T 15: 76,609,712 (GRCm39) probably benign Het
Arrb1 G T 7: 99,247,503 (GRCm39) probably benign Het
Cadps A G 14: 12,822,323 (GRCm38) M139T probably damaging Het
Casr A G 16: 36,320,703 (GRCm39) C482R probably benign Het
Cdca4 A T 12: 112,785,499 (GRCm39) H76Q probably benign Het
Ddias A G 7: 92,507,287 (GRCm39) L876P probably benign Het
Dnah9 T C 11: 65,976,303 (GRCm39) S1249G possibly damaging Het
Dnttip1 A G 2: 164,609,739 (GRCm39) probably benign Het
Eme2 A G 17: 25,112,598 (GRCm39) S160P probably benign Het
Fbxw24 A T 9: 109,437,256 (GRCm39) D210E probably damaging Het
Folr2 T C 7: 101,489,881 (GRCm39) E129G probably damaging Het
Herc6 T A 6: 57,636,664 (GRCm39) N793K possibly damaging Het
Iqcg T G 16: 32,851,186 (GRCm39) K262Q possibly damaging Het
Lhfpl3 A G 5: 22,980,690 (GRCm39) probably benign Het
Lmod2 A C 6: 24,604,629 (GRCm39) S535R probably damaging Het
Lrp1b T A 2: 40,555,094 (GRCm39) S342C possibly damaging Het
Lrrn3 T A 12: 41,502,583 (GRCm39) Y578F possibly damaging Het
Map3k4 T A 17: 12,467,885 (GRCm39) R1050W probably damaging Het
Muc6 T A 7: 141,217,576 (GRCm39) T2301S possibly damaging Het
Mycbp2 T C 14: 103,372,702 (GRCm39) E4048G probably damaging Het
Myh3 G C 11: 66,975,858 (GRCm39) E297Q possibly damaging Het
Nkain3 A G 4: 20,778,284 (GRCm39) V11A probably benign Het
Or4c102 G A 2: 88,422,765 (GRCm39) V206I probably benign Het
P3h2 G C 16: 25,924,040 (GRCm39) R132G possibly damaging Het
Pals2 C T 6: 50,175,248 (GRCm39) Q520* probably null Het
Phgdh A G 3: 98,221,591 (GRCm39) M447T probably benign Het
Pmfbp1 G A 8: 110,258,695 (GRCm39) A667T probably benign Het
Pramel41 A T 5: 94,593,720 (GRCm39) Q15L probably benign Het
Psmd2 T G 16: 20,473,776 (GRCm39) C230G probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Slc37a3 T A 6: 39,315,747 (GRCm39) Y443F probably benign Het
Sorl1 C A 9: 41,915,288 (GRCm39) G1314* probably null Het
St7 C T 6: 17,854,932 (GRCm39) R267* probably null Het
Syne2 C T 12: 76,141,167 (GRCm39) S99L probably damaging Het
Tacc2 T G 7: 130,343,941 (GRCm39) S2533R possibly damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Uaca T G 9: 60,777,173 (GRCm39) V518G probably damaging Het
Usp43 T C 11: 67,746,716 (GRCm39) E992G probably benign Het
Vmn1r55 A G 7: 5,150,075 (GRCm39) V116A probably benign Het
Wdr3 G A 3: 100,047,543 (GRCm39) T844M probably benign Het
Wdr7 T A 18: 63,911,320 (GRCm39) M904K probably damaging Het
Zbtb39 A G 10: 127,578,696 (GRCm39) I423M possibly damaging Het
Zmym1 A T 4: 126,941,897 (GRCm39) C830* probably null Het
Other mutations in Spag7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01764:Spag7 APN 11 70,554,933 (GRCm39) unclassified probably benign
life_savers UTSW 11 70,555,688 (GRCm39) missense probably damaging 1.00
R0371:Spag7 UTSW 11 70,555,622 (GRCm39) missense probably damaging 1.00
R0376:Spag7 UTSW 11 70,560,016 (GRCm39) unclassified probably benign
R0973:Spag7 UTSW 11 70,560,008 (GRCm39) unclassified probably benign
R1622:Spag7 UTSW 11 70,555,688 (GRCm39) missense probably damaging 1.00
R1955:Spag7 UTSW 11 70,555,844 (GRCm39) missense probably benign 0.00
R4025:Spag7 UTSW 11 70,555,300 (GRCm39) missense probably damaging 1.00
R4385:Spag7 UTSW 11 70,560,029 (GRCm39) missense probably damaging 1.00
R4409:Spag7 UTSW 11 70,555,688 (GRCm39) missense probably damaging 1.00
R4561:Spag7 UTSW 11 70,555,816 (GRCm39) missense probably damaging 1.00
R5493:Spag7 UTSW 11 70,560,059 (GRCm39) missense probably null 1.00
R6366:Spag7 UTSW 11 70,555,418 (GRCm39) missense possibly damaging 0.71
R7283:Spag7 UTSW 11 70,556,139 (GRCm39) missense probably benign 0.00
R7653:Spag7 UTSW 11 70,555,691 (GRCm39) missense probably damaging 1.00
R8404:Spag7 UTSW 11 70,560,059 (GRCm39) missense probably benign 0.15
R8502:Spag7 UTSW 11 70,560,059 (GRCm39) missense probably benign 0.15
R9628:Spag7 UTSW 11 70,555,186 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- GTGCAAACTCCTGGAGATGAAG -3'
(R):5'- GTCTGATTTCATCCAGGACAGTG -3'

Sequencing Primer
(F):5'- CTCCTGGAGATGAAGAGAAAGGTAG -3'
(R):5'- TCCAGGACAGTGGACAGGTC -3'
Posted On 2015-07-07