Incidental Mutation 'R6366:Spag7'
ID |
512702 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spag7
|
Ensembl Gene |
ENSMUSG00000018287 |
Gene Name |
sperm associated antigen 7 |
Synonyms |
FSA-1, Fsa1l |
MMRRC Submission |
044516-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6366 (G1)
|
Quality Score |
207.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
70554597-70560242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70555418 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 125
(K125E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115098
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018431]
[ENSMUST00000036299]
[ENSMUST00000072841]
[ENSMUST00000100933]
[ENSMUST00000108544]
[ENSMUST00000108545]
[ENSMUST00000108548]
[ENSMUST00000129434]
[ENSMUST00000157027]
[ENSMUST00000119120]
[ENSMUST00000120261]
[ENSMUST00000170716]
[ENSMUST00000145823]
|
AlphaFold |
Q7TNE3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000018431
AA Change: K135E
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000018431 Gene: ENSMUSG00000018287 AA Change: K135E
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 |
possibly damaging
Transcript: ENSMUST00000129434
AA Change: K125E
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000115098 Gene: ENSMUSG00000018287 AA Change: K125E
Domain | Start | End | E-Value | Type |
R3H
|
22 |
99 |
3.06e-15 |
SMART |
low complexity region
|
120 |
142 |
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
|
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: 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: 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 |
noncoding transcript
Transcript: ENSMUST00000137691
|
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 |
noncoding transcript
Transcript: ENSMUST00000124691
|
Meta Mutation Damage Score |
0.0875 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.0%
- 20x: 93.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
A |
G |
3: 116,584,766 (GRCm39) |
F185L |
probably damaging |
Het |
Ank3 |
A |
G |
10: 69,835,188 (GRCm39) |
D131G |
probably damaging |
Het |
Boc |
T |
C |
16: 44,308,015 (GRCm39) |
K947E |
probably benign |
Het |
Ccdc110 |
A |
G |
8: 46,396,425 (GRCm39) |
E772G |
probably damaging |
Het |
Ccdc7a |
A |
G |
8: 129,582,473 (GRCm39) |
V1055A |
unknown |
Het |
Chd1l |
A |
G |
3: 97,501,476 (GRCm39) |
V190A |
probably benign |
Het |
Chl1 |
C |
A |
6: 103,706,197 (GRCm39) |
N396K |
possibly damaging |
Het |
CN725425 |
T |
G |
15: 91,131,124 (GRCm39) |
Y420D |
possibly damaging |
Het |
Col6a1 |
A |
T |
10: 76,546,804 (GRCm39) |
I806N |
unknown |
Het |
Csmd2 |
A |
G |
4: 128,377,245 (GRCm39) |
K2042E |
probably benign |
Het |
Eif4a1 |
G |
T |
11: 69,561,781 (GRCm39) |
D15E |
probably benign |
Het |
Etfb |
T |
C |
7: 43,102,365 (GRCm39) |
L119S |
probably damaging |
Het |
Fbxo42 |
T |
A |
4: 140,927,260 (GRCm39) |
S513R |
probably benign |
Het |
Gys2 |
C |
A |
6: 142,409,120 (GRCm39) |
C45F |
probably benign |
Het |
Hspa1a |
G |
A |
17: 35,189,500 (GRCm39) |
P468S |
probably damaging |
Het |
Kdm2a |
G |
T |
19: 4,374,960 (GRCm39) |
Q724K |
probably benign |
Het |
Lama3 |
G |
T |
18: 12,615,194 (GRCm39) |
G1373W |
probably damaging |
Het |
Lhx1 |
A |
T |
11: 84,413,034 (GRCm39) |
F84Y |
probably damaging |
Het |
Lpxn |
G |
A |
19: 12,802,163 (GRCm39) |
V163M |
probably benign |
Het |
Lrrc7 |
T |
C |
3: 157,841,012 (GRCm39) |
Q1389R |
probably benign |
Het |
Lrtm2 |
T |
C |
6: 119,294,238 (GRCm39) |
R298G |
probably damaging |
Het |
Ltv1 |
A |
G |
10: 13,056,739 (GRCm39) |
V268A |
probably benign |
Het |
Mgat4d |
T |
A |
8: 84,095,580 (GRCm39) |
|
probably null |
Het |
Mknk2 |
C |
A |
10: 80,507,767 (GRCm39) |
R33L |
probably damaging |
Het |
Ms4a1 |
A |
G |
19: 11,236,062 (GRCm39) |
S42P |
probably damaging |
Het |
Muc16 |
T |
C |
9: 18,557,340 (GRCm39) |
I2984M |
unknown |
Het |
Mup12 |
A |
C |
4: 60,696,657 (GRCm39) |
F74V |
probably damaging |
Het |
Nacad |
A |
C |
11: 6,551,196 (GRCm39) |
L665R |
probably benign |
Het |
Pde6a |
T |
A |
18: 61,398,142 (GRCm39) |
|
probably null |
Het |
Plb1 |
A |
G |
5: 32,471,429 (GRCm39) |
N579D |
possibly damaging |
Het |
Podn |
T |
A |
4: 107,876,001 (GRCm39) |
I552F |
possibly damaging |
Het |
Potefam1 |
A |
G |
2: 110,999,937 (GRCm39) |
|
probably null |
Het |
Pramel32 |
T |
A |
4: 88,547,102 (GRCm39) |
I106F |
probably damaging |
Het |
Prl3b1 |
A |
T |
13: 27,427,875 (GRCm39) |
M62L |
probably benign |
Het |
Ptpn13 |
G |
T |
5: 103,698,919 (GRCm39) |
R1134L |
probably damaging |
Het |
Rpl37 |
T |
A |
15: 5,147,990 (GRCm39) |
|
probably null |
Het |
Samd4 |
T |
A |
14: 47,311,607 (GRCm39) |
|
probably null |
Het |
Sh3rf2 |
T |
C |
18: 42,286,130 (GRCm39) |
V541A |
probably benign |
Het |
Shcbp1 |
A |
G |
8: 4,799,380 (GRCm39) |
V335A |
probably damaging |
Het |
Slc7a7 |
T |
C |
14: 54,612,057 (GRCm39) |
Y282C |
probably damaging |
Het |
Spata31e4 |
T |
C |
13: 50,855,972 (GRCm39) |
Y537H |
probably benign |
Het |
Sptan1 |
T |
C |
2: 29,910,467 (GRCm39) |
S1831P |
possibly damaging |
Het |
Stab1 |
T |
C |
14: 30,863,395 (GRCm39) |
K2097R |
probably benign |
Het |
Stk38 |
A |
G |
17: 29,193,338 (GRCm39) |
W364R |
probably benign |
Het |
Tectb |
G |
A |
19: 55,170,350 (GRCm39) |
G67D |
probably damaging |
Het |
Ttll9 |
G |
T |
2: 152,833,525 (GRCm39) |
D208Y |
probably damaging |
Het |
Tyro3 |
G |
A |
2: 119,647,156 (GRCm39) |
D758N |
probably damaging |
Het |
Tyw1 |
T |
C |
5: 130,310,792 (GRCm39) |
|
probably benign |
Het |
Unc5b |
C |
T |
10: 60,614,091 (GRCm39) |
A253T |
probably benign |
Het |
Wtap |
A |
T |
17: 13,186,945 (GRCm39) |
|
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 |
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 |
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'- GGCTGCTCCTTTGCCAATAAG -3'
(R):5'- TGACTGTCGCTATGTCATGATC -3'
Sequencing Primer
(F):5'- CTTGTAGTCGCTGGCAGGACTC -3'
(R):5'- CGCTATGTCATGATCTTCAAAAAGG -3'
|
Posted On |
2018-04-27 |