Incidental Mutation 'R4561:Spag7'
ID |
499996 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spag7
|
Ensembl Gene |
ENSMUSG00000018287 |
Gene Name |
sperm associated antigen 7 |
Synonyms |
FSA-1, Fsa1l |
MMRRC Submission |
041786-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4561 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
70554597-70560242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70555816 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 80
(I80M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000018431
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018431]
[ENSMUST00000036299]
[ENSMUST00000072841]
[ENSMUST00000100933]
[ENSMUST00000108544]
[ENSMUST00000108545]
[ENSMUST00000108548]
[ENSMUST00000129434]
[ENSMUST00000157027]
[ENSMUST00000170716]
[ENSMUST00000120261]
[ENSMUST00000119120]
[ENSMUST00000145823]
|
AlphaFold |
Q7TNE3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000018431
AA Change: I80M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000018431 Gene: ENSMUSG00000018287 AA Change: I80M
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
Enolase_N
|
3 |
134 |
6.26e-91 |
SMART |
Enolase_C
|
142 |
431 |
8.8e-200 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000129434
AA Change: I70M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000115098 Gene: ENSMUSG00000018287 AA Change: I70M
Domain | Start | End | E-Value | Type |
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 |
probably benign
Transcript: ENSMUST00000157027
|
SMART Domains |
Protein: ENSMUSP00000115726 Gene: ENSMUSG00000060600
Domain | Start | End | E-Value | Type |
Enolase_N
|
3 |
134 |
6.26e-91 |
SMART |
Pfam:Enolase_C
|
142 |
196 |
1e-29 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179055
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170716
|
SMART Domains |
Protein: ENSMUSP00000128714 Gene: ENSMUSG00000060600
Domain | Start | End | E-Value | Type |
Enolase_N
|
3 |
134 |
6.26e-91 |
SMART |
Enolase_C
|
142 |
431 |
8.8e-200 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120261
|
SMART Domains |
Protein: ENSMUSP00000113667 Gene: ENSMUSG00000040712
Domain | Start | End | E-Value | Type |
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: ENSMUST00000119120
|
SMART Domains |
Protein: ENSMUSP00000113847 Gene: ENSMUSG00000040712
Domain | Start | End | E-Value | Type |
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 |
noncoding transcript
Transcript: ENSMUST00000125687
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179738
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145823
|
SMART Domains |
Protein: ENSMUSP00000123602 Gene: ENSMUSG00000040712
Domain | Start | End | E-Value | Type |
CG-1
|
34 |
137 |
2.55e-44 |
SMART |
low complexity region
|
146 |
165 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank3 |
T |
C |
10: 69,837,848 (GRCm39) |
S1601P |
probably damaging |
Het |
Arnt |
A |
G |
3: 95,359,924 (GRCm39) |
N56D |
probably damaging |
Het |
Atad5 |
A |
G |
11: 79,986,715 (GRCm39) |
T601A |
probably benign |
Het |
Calr4 |
A |
G |
4: 109,103,379 (GRCm39) |
N163S |
probably damaging |
Het |
Cenpc1 |
C |
A |
5: 86,195,491 (GRCm39) |
A93S |
probably damaging |
Het |
Cep135 |
C |
T |
5: 76,786,040 (GRCm39) |
H1048Y |
possibly damaging |
Het |
Ctnna2 |
A |
G |
6: 77,613,696 (GRCm39) |
|
probably null |
Het |
Ddx60 |
T |
C |
8: 62,395,495 (GRCm39) |
L144P |
probably damaging |
Het |
Dera |
A |
T |
6: 137,757,736 (GRCm39) |
T96S |
possibly damaging |
Het |
Dock9 |
T |
A |
14: 121,796,419 (GRCm39) |
M1853L |
probably benign |
Het |
Erbb4 |
G |
A |
1: 68,383,080 (GRCm39) |
R306* |
probably null |
Het |
Glyat |
G |
T |
19: 12,628,644 (GRCm39) |
L146F |
possibly damaging |
Het |
Grk4 |
C |
A |
5: 34,852,157 (GRCm39) |
Q134K |
probably benign |
Het |
Hkdc1 |
T |
C |
10: 62,245,618 (GRCm39) |
Q181R |
probably benign |
Het |
Huwe1 |
A |
T |
X: 150,646,955 (GRCm39) |
I682F |
probably damaging |
Het |
Ipo4 |
C |
T |
14: 55,867,546 (GRCm39) |
|
probably benign |
Het |
Ivl |
CCTGCTGCTGCT |
CCTGCTGCTGCTGCT |
3: 92,479,262 (GRCm39) |
|
probably benign |
Het |
Kcnd2 |
A |
G |
6: 21,216,395 (GRCm39) |
Q33R |
probably benign |
Het |
Kdm7a |
C |
T |
6: 39,129,757 (GRCm39) |
R473Q |
probably damaging |
Het |
Klhl30 |
A |
T |
1: 91,288,753 (GRCm39) |
H504L |
probably damaging |
Het |
Map4 |
A |
G |
9: 109,881,439 (GRCm39) |
Y101C |
possibly damaging |
Het |
Mfn2 |
C |
A |
4: 147,961,492 (GRCm39) |
R707L |
probably damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Myof |
T |
C |
19: 37,911,438 (GRCm39) |
N1511D |
probably benign |
Het |
Neb |
A |
T |
2: 52,176,167 (GRCm39) |
Y1431N |
probably damaging |
Het |
Nlrc5 |
A |
G |
8: 95,203,774 (GRCm39) |
T625A |
probably damaging |
Het |
Or5g27 |
G |
T |
2: 85,409,964 (GRCm39) |
C127F |
probably damaging |
Het |
Pax2 |
A |
G |
19: 44,824,402 (GRCm39) |
Y374C |
unknown |
Het |
Pde8a |
T |
A |
7: 80,958,568 (GRCm39) |
Y315* |
probably null |
Het |
Pkhd1 |
A |
T |
1: 20,604,943 (GRCm39) |
L1124Q |
possibly damaging |
Het |
Ppp1r3a |
A |
G |
6: 14,754,681 (GRCm39) |
F189L |
probably damaging |
Het |
Prex2 |
G |
A |
1: 11,254,769 (GRCm39) |
|
probably null |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Slc22a22 |
T |
A |
15: 57,126,781 (GRCm39) |
Q77L |
probably damaging |
Het |
Slc24a2 |
A |
T |
4: 87,145,634 (GRCm39) |
V140D |
probably damaging |
Het |
Slc35g2 |
C |
A |
9: 100,435,287 (GRCm39) |
R128L |
probably damaging |
Het |
Slco1b2 |
A |
G |
6: 141,616,893 (GRCm39) |
T409A |
probably benign |
Het |
Srgap3 |
A |
G |
6: 112,758,015 (GRCm39) |
M164T |
probably damaging |
Het |
Sspo |
A |
T |
6: 48,452,468 (GRCm39) |
|
probably null |
Het |
Tcte2 |
T |
C |
17: 13,942,864 (GRCm39) |
|
probably benign |
Het |
Tmem117 |
A |
T |
15: 94,992,677 (GRCm39) |
M446L |
probably benign |
Het |
Tmtc4 |
T |
C |
14: 123,200,710 (GRCm39) |
T194A |
probably benign |
Het |
Ttc21b |
T |
C |
2: 66,016,562 (GRCm39) |
Y1269C |
probably damaging |
Het |
Zfp236 |
A |
T |
18: 82,638,531 (GRCm39) |
I1363N |
probably damaging |
Het |
Zfp760 |
T |
A |
17: 21,942,648 (GRCm39) |
S608T |
probably benign |
Het |
Zfp947 |
G |
T |
17: 22,365,124 (GRCm39) |
Y183* |
probably null |
Het |
|
Other mutations in Spag7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
R4410:Spag7
|
UTSW |
11 |
70,555,688 (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'- AGCGACAGTCATCATCTTCTCC -3'
(R):5'- AGATGGTGGAACTAAAAGCCCC -3'
Sequencing Primer
(F):5'- GACAGTCATCATCTTCTCCAAAGG -3'
(R):5'- TGGAACTAAAAGCCCCTCGCC -3'
|
Posted On |
2017-11-30 |