Incidental Mutation 'R4692:Spag6'
| ID |
354959 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spag6
|
| Ensembl Gene |
ENSMUSG00000037708 |
| Gene Name |
sperm associated antigen 6 |
| Synonyms |
BC061194, Spag6l |
| MMRRC Submission |
041943-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R4692 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
18698808-18754561 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18704054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 34
(I34T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095132]
[ENSMUST00000173763]
|
| AlphaFold |
Q3V0U9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095132
AA Change: I34T
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000092751
Gene: ENSMUSG00000037708
AA Change: I34T
| Domain | Start | End | E-Value | Type |
|---|
|
ARM
|
30 |
70 |
2.26e-3 |
SMART |
|
ARM
|
114 |
154 |
1.67e-6 |
SMART |
|
ARM
|
156 |
196 |
4.28e-4 |
SMART |
|
ARM
|
198 |
238 |
5.43e-6 |
SMART |
|
ARM
|
240 |
280 |
4.6e0 |
SMART |
|
ARM
|
282 |
322 |
3.09e1 |
SMART |
|
ARM
|
323 |
365 |
3.93e-3 |
SMART |
|
Blast:ARM
|
367 |
409 |
7e-17 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137796
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138017
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173763
AA Change: I12T
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000133383
Gene: ENSMUSG00000037708
AA Change: I12T
| Domain | Start | End | E-Value | Type |
|---|
|
ARM
|
8 |
48 |
2.26e-3 |
SMART |
|
Blast:ARM
|
50 |
90 |
2e-14 |
BLAST |
|
ARM
|
92 |
132 |
1.67e-6 |
SMART |
|
ARM
|
134 |
166 |
5.76e1 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
A |
T |
10: 28,849,882 (GRCm39) |
Y230* |
probably null |
Het |
| 9230104M06Rik |
A |
T |
12: 112,963,692 (GRCm39) |
|
probably benign |
Het |
| Arhgap20 |
A |
G |
9: 51,697,088 (GRCm39) |
D53G |
probably damaging |
Het |
| Arl2 |
T |
C |
19: 6,187,776 (GRCm39) |
T54A |
probably damaging |
Het |
| Baz2a |
G |
A |
10: 127,960,762 (GRCm39) |
G1521S |
probably damaging |
Het |
| Begain |
A |
G |
12: 108,999,818 (GRCm39) |
S523P |
probably damaging |
Het |
| Car10 |
T |
C |
11: 93,075,984 (GRCm39) |
|
probably null |
Het |
| Cenpe |
A |
G |
3: 134,922,140 (GRCm39) |
I66V |
probably benign |
Het |
| Col14a1 |
T |
A |
15: 55,286,864 (GRCm39) |
V895E |
unknown |
Het |
| Coro1b |
T |
C |
19: 4,199,418 (GRCm39) |
Y26H |
probably damaging |
Het |
| Crebbp |
T |
C |
16: 3,932,727 (GRCm39) |
E1017G |
possibly damaging |
Het |
| Cwf19l2 |
T |
C |
9: 3,428,709 (GRCm39) |
S232P |
probably damaging |
Het |
| Cyp7b1 |
T |
A |
3: 18,126,728 (GRCm39) |
I473F |
probably damaging |
Het |
| Efcab5 |
A |
T |
11: 77,004,507 (GRCm39) |
I937N |
probably damaging |
Het |
| Fam53c |
A |
C |
18: 34,901,743 (GRCm39) |
E220A |
probably damaging |
Het |
| Gsn |
A |
G |
2: 35,188,883 (GRCm39) |
Y434C |
probably damaging |
Het |
| Igkv2-137 |
T |
C |
6: 67,532,971 (GRCm39) |
S45P |
possibly damaging |
Het |
| Katnip |
T |
C |
7: 125,466,841 (GRCm39) |
|
probably null |
Het |
| Kif13b |
C |
A |
14: 65,041,024 (GRCm39) |
T1704K |
probably benign |
Het |
| Mapk7 |
A |
G |
11: 61,380,068 (GRCm39) |
S697P |
possibly damaging |
Het |
| Mrgpra1 |
T |
A |
7: 46,985,446 (GRCm39) |
I78F |
probably damaging |
Het |
| N6amt1 |
T |
C |
16: 87,153,854 (GRCm39) |
V97A |
possibly damaging |
Het |
| Oas3 |
T |
C |
5: 120,907,420 (GRCm39) |
T406A |
probably benign |
Het |
| Or4f61 |
A |
G |
2: 111,923,026 (GRCm39) |
S7P |
probably damaging |
Het |
| Or8c17 |
C |
T |
9: 38,179,826 (GRCm39) |
Q6* |
probably null |
Het |
| Paxip1 |
T |
C |
5: 27,977,095 (GRCm39) |
|
probably benign |
Het |
| Pfn4 |
A |
T |
12: 4,824,486 (GRCm39) |
Y71F |
probably damaging |
Het |
| Plin4 |
C |
A |
17: 56,410,762 (GRCm39) |
G1090C |
probably damaging |
Het |
| Ptk2b |
C |
T |
14: 66,394,518 (GRCm39) |
G859S |
probably benign |
Het |
| Rbl2 |
T |
A |
8: 91,849,047 (GRCm39) |
D1084E |
probably damaging |
Het |
| Robo1 |
T |
G |
16: 72,757,090 (GRCm39) |
S350R |
probably damaging |
Het |
| Sbno2 |
A |
G |
10: 79,922,161 (GRCm39) |
V4A |
possibly damaging |
Het |
| Sh3rf1 |
T |
C |
8: 61,806,888 (GRCm39) |
|
probably null |
Het |
| Smgc |
T |
C |
15: 91,738,764 (GRCm39) |
V474A |
possibly damaging |
Het |
| Snx13 |
A |
G |
12: 35,136,917 (GRCm39) |
D126G |
possibly damaging |
Het |
| Sox9 |
C |
A |
11: 112,673,803 (GRCm39) |
H131Q |
probably benign |
Het |
| Speer2 |
T |
A |
16: 69,654,860 (GRCm39) |
T202S |
possibly damaging |
Het |
| Sspo |
T |
A |
6: 48,459,621 (GRCm39) |
C3327S |
probably damaging |
Het |
| Vcpip1 |
G |
T |
1: 9,818,299 (GRCm39) |
A28E |
unknown |
Het |
| Vstm5 |
A |
T |
9: 15,168,718 (GRCm39) |
D94V |
probably damaging |
Het |
| Zfp329 |
T |
C |
7: 12,544,559 (GRCm39) |
K322E |
probably damaging |
Het |
| Zfp932 |
G |
A |
5: 110,157,052 (GRCm39) |
G250D |
probably damaging |
Het |
| Zscan26 |
A |
G |
13: 21,629,427 (GRCm39) |
C359R |
probably damaging |
Het |
|
| Other mutations in Spag6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00505:Spag6
|
APN |
2 |
18,738,995 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL01352:Spag6
|
APN |
2 |
18,715,284 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02795:Spag6
|
APN |
2 |
18,737,894 (GRCm39) |
missense |
probably benign |
|
|
IGL03406:Spag6
|
APN |
2 |
18,747,684 (GRCm39) |
splice site |
probably benign |
|
|
R0362:Spag6
|
UTSW |
2 |
18,715,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0423:Spag6
|
UTSW |
2 |
18,715,404 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1309:Spag6
|
UTSW |
2 |
18,739,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1386:Spag6
|
UTSW |
2 |
18,739,057 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1568:Spag6
|
UTSW |
2 |
18,737,925 (GRCm39) |
missense |
probably benign |
|
|
R1716:Spag6
|
UTSW |
2 |
18,750,420 (GRCm39) |
splice site |
probably null |
|
|
R1771:Spag6
|
UTSW |
2 |
18,738,928 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1911:Spag6
|
UTSW |
2 |
18,720,616 (GRCm39) |
nonsense |
probably null |
|
|
R1985:Spag6
|
UTSW |
2 |
18,736,930 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2029:Spag6
|
UTSW |
2 |
18,738,916 (GRCm39) |
unclassified |
probably benign |
|
|
R2131:Spag6
|
UTSW |
2 |
18,737,908 (GRCm39) |
nonsense |
probably null |
|
|
R3705:Spag6
|
UTSW |
2 |
18,715,368 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4230:Spag6
|
UTSW |
2 |
18,720,449 (GRCm39) |
splice site |
probably null |
|
|
R4585:Spag6
|
UTSW |
2 |
18,736,958 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4586:Spag6
|
UTSW |
2 |
18,736,958 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4745:Spag6
|
UTSW |
2 |
18,742,107 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4890:Spag6
|
UTSW |
2 |
18,747,588 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4914:Spag6
|
UTSW |
2 |
18,750,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4918:Spag6
|
UTSW |
2 |
18,750,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5086:Spag6
|
UTSW |
2 |
18,747,688 (GRCm39) |
splice site |
probably benign |
|
|
R5264:Spag6
|
UTSW |
2 |
18,750,324 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5729:Spag6
|
UTSW |
2 |
18,720,525 (GRCm39) |
missense |
probably benign |
|
|
R5754:Spag6
|
UTSW |
2 |
18,703,613 (GRCm39) |
unclassified |
probably benign |
|
|
R5781:Spag6
|
UTSW |
2 |
18,736,804 (GRCm39) |
missense |
probably benign |
|
|
R5954:Spag6
|
UTSW |
2 |
18,715,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6246:Spag6
|
UTSW |
2 |
18,703,906 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7607:Spag6
|
UTSW |
2 |
18,736,773 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8261:Spag6
|
UTSW |
2 |
18,750,301 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8411:Spag6
|
UTSW |
2 |
18,715,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8865:Spag6
|
UTSW |
2 |
18,738,928 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9275:Spag6
|
UTSW |
2 |
18,703,985 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9278:Spag6
|
UTSW |
2 |
18,703,985 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9413:Spag6
|
UTSW |
2 |
18,739,029 (GRCm39) |
missense |
probably benign |
|
|
R9451:Spag6
|
UTSW |
2 |
18,715,369 (GRCm39) |
nonsense |
probably null |
|
|
R9660:Spag6
|
UTSW |
2 |
18,704,047 (GRCm39) |
missense |
probably benign |
0.37 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCGATTCCGACTGGTTGC -3'
(R):5'- AACTTGGCACCACTTTAGCC -3'
Sequencing Primer
(F):5'- TGGGTACACAGAGCAGTCC -3'
(R):5'- TCCCCAAAAGCTGAGCTAATAAGGG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation