Incidental Mutation 'R6958:Spata13'
| ID |
541604 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata13
|
| Ensembl Gene |
ENSMUSG00000021990 |
| Gene Name |
spermatogenesis associated 13 |
| Synonyms |
ESTM11 |
| MMRRC Submission |
045009-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6958 (G1)
|
| Quality Score |
205.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
60871450-61002005 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 60989300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 319
(T319S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022566]
[ENSMUST00000160973]
[ENSMUST00000162945]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022566
AA Change: T989S
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000022566
Gene: ENSMUSG00000021990
AA Change: T989S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
307 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
426 |
450 |
N/A |
INTRINSIC |
|
low complexity region
|
453 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
557 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
604 |
623 |
N/A |
INTRINSIC |
|
SH3
|
742 |
797 |
4.92e-16 |
SMART |
|
RhoGEF
|
836 |
1015 |
1.22e-58 |
SMART |
|
PH
|
1048 |
1155 |
1.16e-9 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160973
AA Change: T989S
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123928
Gene: ENSMUSG00000021990
AA Change: T989S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
307 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
426 |
450 |
N/A |
INTRINSIC |
|
low complexity region
|
453 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
557 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
604 |
623 |
N/A |
INTRINSIC |
|
SH3
|
742 |
797 |
4.92e-16 |
SMART |
|
RhoGEF
|
836 |
1015 |
1.22e-58 |
SMART |
|
PH
|
1048 |
1155 |
1.16e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162131
|
| SMART Domains |
Protein: ENSMUSP00000124586
Gene: ENSMUSG00000021990
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
99 |
N/A |
INTRINSIC |
|
SH3
|
208 |
263 |
4.92e-16 |
SMART |
|
Blast:RhoGEF
|
302 |
340 |
7e-19 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162945
AA Change: T319S
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123888
Gene: ENSMUSG00000021990
AA Change: T319S
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
72 |
127 |
4.92e-16 |
SMART |
|
RhoGEF
|
166 |
345 |
1.22e-58 |
SMART |
|
PH
|
378 |
485 |
1.16e-9 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and overtly normal but show a significant reduction in the number and size of intestinal adenomas in conjunction with ApcMin heterozygotes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004B18Rik |
A |
G |
3: 145,649,558 (GRCm39) |
D159G |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,992,579 (GRCm39) |
N4621S |
possibly damaging |
Het |
| Ankrd16 |
C |
T |
2: 11,784,604 (GRCm39) |
A144V |
probably damaging |
Het |
| Bhmt1b |
G |
A |
18: 87,775,046 (GRCm39) |
E190K |
probably benign |
Het |
| Ccdc14 |
T |
C |
16: 34,511,176 (GRCm39) |
V2A |
probably damaging |
Het |
| Ccdc187 |
C |
T |
2: 26,179,731 (GRCm39) |
V243I |
probably benign |
Het |
| Cdk12 |
A |
T |
11: 98,132,525 (GRCm39) |
I985F |
unknown |
Het |
| Cfap65 |
T |
C |
1: 74,971,058 (GRCm39) |
T87A |
possibly damaging |
Het |
| Cilp2 |
G |
A |
8: 70,335,190 (GRCm39) |
P603S |
probably benign |
Het |
| Cntnap5b |
A |
G |
1: 100,202,197 (GRCm39) |
E348G |
probably benign |
Het |
| Cpa6 |
C |
T |
1: 10,665,913 (GRCm39) |
V42M |
probably damaging |
Het |
| Cpsf4 |
A |
G |
5: 145,112,402 (GRCm39) |
I115V |
probably benign |
Het |
| Dnah11 |
G |
T |
12: 117,897,544 (GRCm39) |
P3562Q |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,967,167 (GRCm39) |
F1664L |
probably damaging |
Het |
| Dpysl3 |
T |
C |
18: 43,571,067 (GRCm39) |
Q69R |
probably benign |
Het |
| Ebf3 |
T |
C |
7: 136,800,994 (GRCm39) |
T455A |
possibly damaging |
Het |
| Eif2ak3 |
T |
A |
6: 70,869,667 (GRCm39) |
C785S |
probably benign |
Het |
| Elk4 |
T |
A |
1: 131,945,570 (GRCm39) |
F149L |
probably damaging |
Het |
| Fgf14 |
A |
G |
14: 124,914,009 (GRCm39) |
W41R |
probably benign |
Het |
| Fmnl1 |
T |
A |
11: 103,062,140 (GRCm39) |
M1K |
probably null |
Het |
| Foxk2 |
A |
T |
11: 121,190,563 (GRCm39) |
Q568L |
probably benign |
Het |
| Fryl |
T |
G |
5: 73,231,272 (GRCm39) |
I1602L |
possibly damaging |
Het |
| Gfm2 |
A |
G |
13: 97,282,744 (GRCm39) |
I75V |
probably damaging |
Het |
| Gm3233 |
T |
A |
10: 77,595,369 (GRCm39) |
|
probably benign |
Het |
| Gnb1 |
G |
T |
4: 155,627,651 (GRCm39) |
|
probably null |
Het |
| Gphn |
G |
T |
12: 78,727,073 (GRCm39) |
V662L |
possibly damaging |
Het |
| Il3 |
A |
C |
11: 54,157,937 (GRCm39) |
V47G |
probably benign |
Het |
| Iqgap3 |
A |
G |
3: 88,020,673 (GRCm39) |
D401G |
possibly damaging |
Het |
| Kdm3b |
T |
A |
18: 34,941,336 (GRCm39) |
S276T |
probably benign |
Het |
| Krtap6-2 |
A |
G |
16: 89,216,698 (GRCm39) |
S90P |
unknown |
Het |
| Lars1 |
C |
T |
18: 42,369,704 (GRCm39) |
V394I |
probably damaging |
Het |
| Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
| Lrp10 |
A |
G |
14: 54,707,278 (GRCm39) |
|
probably benign |
Het |
| Ltn1 |
A |
T |
16: 87,194,679 (GRCm39) |
C1407S |
probably benign |
Het |
| Lzts2 |
G |
T |
19: 45,012,582 (GRCm39) |
|
probably benign |
Het |
| Msantd2 |
A |
G |
9: 37,434,753 (GRCm39) |
E331G |
probably damaging |
Het |
| Myo15a |
G |
A |
11: 60,394,451 (GRCm39) |
G1218S |
probably benign |
Het |
| Myom2 |
G |
A |
8: 15,167,741 (GRCm39) |
A1109T |
probably null |
Het |
| Nhp2 |
A |
G |
11: 51,513,934 (GRCm39) |
T118A |
probably benign |
Het |
| Nup155 |
A |
G |
15: 8,176,638 (GRCm39) |
Y972C |
probably damaging |
Het |
| Nxpe2 |
A |
T |
9: 48,237,566 (GRCm39) |
C230S |
probably damaging |
Het |
| Or12d13 |
T |
C |
17: 37,647,308 (GRCm39) |
I272V |
probably benign |
Het |
| Or51g2 |
A |
G |
7: 102,623,091 (GRCm39) |
L36P |
possibly damaging |
Het |
| Or5w8 |
T |
C |
2: 87,688,295 (GRCm39) |
Y259H |
probably damaging |
Het |
| Pfkfb4 |
A |
T |
9: 108,839,615 (GRCm39) |
N244I |
probably damaging |
Het |
| Pi4ka |
C |
T |
16: 17,143,091 (GRCm39) |
R24Q |
probably damaging |
Het |
| Pkd2l2 |
C |
A |
18: 34,542,543 (GRCm39) |
Y8* |
probably null |
Het |
| Pramel20 |
A |
T |
4: 143,297,829 (GRCm39) |
D83V |
probably damaging |
Het |
| Ptprb |
T |
A |
10: 116,113,153 (GRCm39) |
N44K |
probably benign |
Het |
| Sds |
G |
A |
5: 120,619,537 (GRCm39) |
V149M |
probably damaging |
Het |
| Slc22a30 |
A |
G |
19: 8,364,065 (GRCm39) |
F204L |
probably damaging |
Het |
| Slc26a7 |
C |
T |
4: 14,506,442 (GRCm39) |
A636T |
probably benign |
Het |
| Slc27a1 |
C |
T |
8: 72,038,083 (GRCm39) |
A577V |
possibly damaging |
Het |
| Styxl2 |
T |
A |
1: 165,935,565 (GRCm39) |
D211V |
probably damaging |
Het |
| Tdrd3 |
A |
G |
14: 87,694,532 (GRCm39) |
D29G |
probably damaging |
Het |
| Tex15 |
A |
T |
8: 34,060,899 (GRCm39) |
I110L |
probably benign |
Het |
| Treml2 |
A |
G |
17: 48,615,180 (GRCm39) |
T222A |
probably damaging |
Het |
| Trpd52l3 |
A |
T |
19: 29,981,546 (GRCm39) |
L100F |
probably damaging |
Het |
| Ttf2 |
C |
T |
3: 100,853,248 (GRCm39) |
E975K |
probably benign |
Het |
| Vmn1r193 |
T |
A |
13: 22,404,144 (GRCm39) |
|
probably benign |
Het |
| Xpo1 |
A |
G |
11: 23,235,855 (GRCm39) |
T648A |
probably benign |
Het |
| Zfp641 |
C |
T |
15: 98,190,832 (GRCm39) |
V71I |
possibly damaging |
Het |
|
| Other mutations in Spata13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02364:Spata13
|
APN |
14 |
60,928,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02455:Spata13
|
APN |
14 |
60,944,163 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03189:Spata13
|
APN |
14 |
60,929,063 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL03235:Spata13
|
APN |
14 |
60,989,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4378001:Spata13
|
UTSW |
14 |
60,987,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0278:Spata13
|
UTSW |
14 |
60,929,537 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0316:Spata13
|
UTSW |
14 |
60,929,788 (GRCm39) |
missense |
probably benign |
|
|
R0458:Spata13
|
UTSW |
14 |
60,929,492 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1546:Spata13
|
UTSW |
14 |
60,993,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1780:Spata13
|
UTSW |
14 |
60,929,174 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1791:Spata13
|
UTSW |
14 |
60,946,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1970:Spata13
|
UTSW |
14 |
60,928,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2059:Spata13
|
UTSW |
14 |
60,997,040 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2063:Spata13
|
UTSW |
14 |
60,998,320 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R2068:Spata13
|
UTSW |
14 |
60,998,320 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R2212:Spata13
|
UTSW |
14 |
60,944,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2327:Spata13
|
UTSW |
14 |
60,947,004 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3414:Spata13
|
UTSW |
14 |
60,944,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4115:Spata13
|
UTSW |
14 |
60,929,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4276:Spata13
|
UTSW |
14 |
60,993,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4289:Spata13
|
UTSW |
14 |
60,928,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4291:Spata13
|
UTSW |
14 |
60,947,004 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4293:Spata13
|
UTSW |
14 |
60,947,004 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4294:Spata13
|
UTSW |
14 |
60,947,004 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4295:Spata13
|
UTSW |
14 |
60,947,004 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4779:Spata13
|
UTSW |
14 |
60,991,356 (GRCm39) |
nonsense |
probably null |
|
|
R4780:Spata13
|
UTSW |
14 |
60,991,356 (GRCm39) |
nonsense |
probably null |
|
|
R4838:Spata13
|
UTSW |
14 |
60,970,628 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4997:Spata13
|
UTSW |
14 |
60,946,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5066:Spata13
|
UTSW |
14 |
60,987,538 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5399:Spata13
|
UTSW |
14 |
60,984,990 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5685:Spata13
|
UTSW |
14 |
60,928,652 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5708:Spata13
|
UTSW |
14 |
60,929,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5747:Spata13
|
UTSW |
14 |
60,984,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6073:Spata13
|
UTSW |
14 |
60,987,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6135:Spata13
|
UTSW |
14 |
60,993,877 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6233:Spata13
|
UTSW |
14 |
60,929,456 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6782:Spata13
|
UTSW |
14 |
60,928,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6873:Spata13
|
UTSW |
14 |
60,929,406 (GRCm39) |
missense |
probably benign |
|
|
R7105:Spata13
|
UTSW |
14 |
60,991,319 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7286:Spata13
|
UTSW |
14 |
60,993,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7512:Spata13
|
UTSW |
14 |
60,989,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7565:Spata13
|
UTSW |
14 |
60,989,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7608:Spata13
|
UTSW |
14 |
60,929,956 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7743:Spata13
|
UTSW |
14 |
60,993,698 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7795:Spata13
|
UTSW |
14 |
60,929,291 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7959:Spata13
|
UTSW |
14 |
60,993,679 (GRCm39) |
nonsense |
probably null |
|
|
R8073:Spata13
|
UTSW |
14 |
60,928,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8304:Spata13
|
UTSW |
14 |
60,993,957 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8791:Spata13
|
UTSW |
14 |
60,929,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8889:Spata13
|
UTSW |
14 |
60,994,030 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8893:Spata13
|
UTSW |
14 |
60,987,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8987:Spata13
|
UTSW |
14 |
60,993,896 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9513:Spata13
|
UTSW |
14 |
60,929,849 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9548:Spata13
|
UTSW |
14 |
60,991,303 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9624:Spata13
|
UTSW |
14 |
60,944,349 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9625:Spata13
|
UTSW |
14 |
60,944,349 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9626:Spata13
|
UTSW |
14 |
60,944,349 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9686:Spata13
|
UTSW |
14 |
60,989,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9723:Spata13
|
UTSW |
14 |
60,928,498 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9747:Spata13
|
UTSW |
14 |
60,929,240 (GRCm39) |
missense |
probably benign |
|
|
R9774:Spata13
|
UTSW |
14 |
60,944,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCCATCTACTCTGAGTACTGC -3'
(R):5'- TGCTGCCACATTACCATCAC -3'
Sequencing Primer
(F):5'- TCTACTCTGAGTACTGCAACAAC -3'
(R):5'- GCCACATTACCATCACCACCAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation