Incidental Mutation 'R4025:Spag7'
| ID |
313452 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spag7
|
| Ensembl Gene |
ENSMUSG00000018287 |
| Gene Name |
sperm associated antigen 7 |
| Synonyms |
FSA-1, Fsa1l |
| MMRRC Submission |
040958-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4025 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
70554597-70560242 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 70555300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 130
(E130D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115098
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018431]
[ENSMUST00000036299]
[ENSMUST00000072841]
[ENSMUST00000100933]
[ENSMUST00000108544]
[ENSMUST00000108545]
[ENSMUST00000108548]
[ENSMUST00000129434]
[ENSMUST00000170716]
[ENSMUST00000120261]
[ENSMUST00000145823]
[ENSMUST00000119120]
[ENSMUST00000157027]
|
| AlphaFold |
Q7TNE3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018431
AA Change: E140D
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000018431
Gene: ENSMUSG00000018287
AA Change: E140D
| 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: E130D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000115098
Gene: ENSMUSG00000018287
AA Change: E130D
| 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 |
noncoding transcript
Transcript: ENSMUST00000125687
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179738
|
| 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: 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 |
|
| 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 |
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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1 |
A |
T |
6: 48,885,203 (GRCm39) |
N646I |
probably damaging |
Het |
| Atad5 |
A |
G |
11: 80,011,512 (GRCm39) |
D1293G |
probably damaging |
Het |
| Cacna1a |
C |
T |
8: 85,307,962 (GRCm39) |
T1409I |
probably damaging |
Het |
| Cdk5rap2 |
T |
A |
4: 70,168,624 (GRCm39) |
K1428N |
probably damaging |
Het |
| Clcn6 |
T |
A |
4: 148,098,740 (GRCm39) |
T463S |
possibly damaging |
Het |
| Ctnna2 |
A |
T |
6: 77,613,827 (GRCm39) |
D254E |
possibly damaging |
Het |
| Fbxl7 |
A |
G |
15: 26,552,905 (GRCm39) |
S121P |
probably benign |
Het |
| Fezf2 |
A |
T |
14: 12,343,986 (GRCm38) |
C302S |
probably damaging |
Het |
| Gm9920 |
A |
G |
15: 54,975,966 (GRCm39) |
R25G |
probably benign |
Het |
| Golgb1 |
C |
T |
16: 36,735,706 (GRCm39) |
A1651V |
probably benign |
Het |
| Grk3 |
T |
A |
5: 113,062,850 (GRCm39) |
N666Y |
possibly damaging |
Het |
| Mctp2 |
C |
A |
7: 71,739,987 (GRCm39) |
C801F |
possibly damaging |
Het |
| Myo1e |
A |
G |
9: 70,232,157 (GRCm39) |
I229V |
probably benign |
Het |
| Nutm2 |
A |
G |
13: 50,623,389 (GRCm39) |
I29V |
probably benign |
Het |
| Odf2 |
C |
T |
2: 29,816,827 (GRCm39) |
R763W |
probably damaging |
Het |
| Or8d4 |
T |
C |
9: 40,038,796 (GRCm39) |
T154A |
probably benign |
Het |
| Papss2 |
T |
C |
19: 32,629,323 (GRCm39) |
I304T |
probably damaging |
Het |
| Polr2a |
T |
A |
11: 69,634,485 (GRCm39) |
I693F |
possibly damaging |
Het |
| Ppm1d |
T |
A |
11: 85,236,583 (GRCm39) |
I454N |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,316,378 (GRCm39) |
E2366G |
probably benign |
Het |
| Slc22a20 |
T |
C |
19: 6,035,808 (GRCm39) |
T121A |
probably damaging |
Het |
| Slc4a3 |
T |
C |
1: 75,525,685 (GRCm39) |
S262P |
probably damaging |
Het |
| Slfn4 |
A |
T |
11: 83,078,040 (GRCm39) |
N276I |
probably damaging |
Het |
| Spns1 |
A |
T |
7: 125,976,118 (GRCm39) |
C28* |
probably null |
Het |
| Stab1 |
C |
T |
14: 30,876,909 (GRCm39) |
G805D |
possibly damaging |
Het |
| Swi5 |
T |
C |
2: 32,171,800 (GRCm39) |
D41G |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,634,554 (GRCm39) |
D751G |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Uxs1 |
T |
C |
1: 43,841,776 (GRCm39) |
|
probably benign |
Het |
| Vmn1r34 |
T |
A |
6: 66,614,688 (GRCm39) |
M17L |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,341,746 (GRCm39) |
D1329G |
probably benign |
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 |
|
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 |
|
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'- TGTTGGCCACAGGAACTAGC -3'
(R):5'- AGACTCCTACCGTCATGGAG -3'
Sequencing Primer
(F):5'- AGTGGGCAAGACCTCAGTC -3'
(R):5'- TCCTACCGTCATGGAGAGGAGTG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation