Incidental Mutation 'R7565:Spata13'
| ID |
585401 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata13
|
| Ensembl Gene |
ENSMUSG00000021990 |
| Gene Name |
spermatogenesis associated 13 |
| Synonyms |
ESTM11 |
| MMRRC Submission |
045710-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7565 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
60871450-61002005 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 60989298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 988
(Y988F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022566]
[ENSMUST00000160973]
[ENSMUST00000162945]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022566
AA Change: Y988F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022566
Gene: ENSMUSG00000021990
AA Change: Y988F
| 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 damaging
Transcript: ENSMUST00000160973
AA Change: Y988F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123928
Gene: ENSMUSG00000021990
AA Change: Y988F
| 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 |
probably damaging
Transcript: ENSMUST00000162945
AA Change: Y318F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123888
Gene: ENSMUSG00000021990
AA Change: Y318F
| 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: 99.6%
- 20x: 98.8%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
T |
A |
17: 48,452,750 (GRCm39) |
Y63F |
possibly damaging |
Het |
| Abi1 |
A |
T |
2: 22,836,596 (GRCm39) |
I421N |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,993,520 (GRCm39) |
I4935V |
probably benign |
Het |
| Atg12 |
A |
C |
18: 46,867,551 (GRCm39) |
V131G |
probably damaging |
Het |
| BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
TTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG |
TTCTGTGGTCACTGGGTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG |
3: 95,795,456 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT |
CACTGGTTCTGTGGTGACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT |
3: 95,795,450 (GRCm39) |
|
probably benign |
Het |
| Bcl3 |
C |
T |
7: 19,546,419 (GRCm39) |
V139I |
probably damaging |
Het |
| Bloc1s4 |
T |
A |
5: 36,905,689 (GRCm39) |
M101L |
probably benign |
Het |
| Bmp6 |
C |
T |
13: 38,530,233 (GRCm39) |
Q109* |
probably null |
Het |
| Cabyr |
C |
T |
18: 12,877,656 (GRCm39) |
T28I |
possibly damaging |
Het |
| Catsper3 |
T |
C |
13: 55,932,538 (GRCm39) |
S22P |
probably benign |
Het |
| Catsperg2 |
A |
T |
7: 29,412,406 (GRCm39) |
C395S |
probably null |
Het |
| Cd101 |
T |
C |
3: 100,926,108 (GRCm39) |
T208A |
probably benign |
Het |
| Chaf1a |
A |
G |
17: 56,371,148 (GRCm39) |
S678G |
probably benign |
Het |
| Chrna2 |
A |
C |
14: 66,388,484 (GRCm39) |
I500L |
probably benign |
Het |
| Cln6 |
C |
T |
9: 62,758,039 (GRCm39) |
T266I |
possibly damaging |
Het |
| Col17a1 |
T |
A |
19: 47,659,963 (GRCm39) |
T330S |
possibly damaging |
Het |
| Cyp2d40 |
A |
G |
15: 82,644,975 (GRCm39) |
V225A |
unknown |
Het |
| Dnah10 |
A |
G |
5: 124,876,095 (GRCm39) |
N2645D |
probably damaging |
Het |
| Dph5 |
T |
A |
3: 115,686,446 (GRCm39) |
V74D |
probably benign |
Het |
| Dthd1 |
A |
T |
5: 63,000,435 (GRCm39) |
I586L |
probably damaging |
Het |
| Elane |
G |
A |
10: 79,722,879 (GRCm39) |
R95Q |
probably benign |
Het |
| Fbxw17 |
A |
G |
13: 50,587,398 (GRCm39) |
T453A |
probably damaging |
Het |
| Fpr3 |
C |
A |
17: 18,191,227 (GRCm39) |
T166K |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,191,063 (GRCm39) |
I2724T |
probably benign |
Het |
| Fsip2 |
C |
T |
2: 82,779,856 (GRCm39) |
R201C |
probably damaging |
Het |
| Gm14496 |
A |
G |
2: 181,642,630 (GRCm39) |
N767S |
probably damaging |
Het |
| Gm14496 |
T |
A |
2: 181,633,050 (GRCm39) |
F11Y |
possibly damaging |
Het |
| Hyal4 |
T |
A |
6: 24,765,933 (GRCm39) |
M429K |
possibly damaging |
Het |
| Itgad |
A |
T |
7: 127,782,187 (GRCm39) |
T208S |
probably damaging |
Het |
| Itpr3 |
T |
G |
17: 27,329,862 (GRCm39) |
L1552R |
probably benign |
Het |
| Kcp |
C |
T |
6: 29,499,186 (GRCm39) |
C292Y |
probably damaging |
Het |
| Kdr |
T |
C |
5: 76,109,503 (GRCm39) |
K958R |
probably damaging |
Het |
| Klhl22 |
T |
A |
16: 17,607,148 (GRCm39) |
W485R |
probably damaging |
Het |
| Ldhb |
T |
A |
6: 142,438,245 (GRCm39) |
I271F |
possibly damaging |
Het |
| Lmo7 |
A |
G |
14: 102,122,737 (GRCm39) |
R309G |
probably damaging |
Het |
| Marco |
C |
A |
1: 120,402,395 (GRCm39) |
C517F |
probably damaging |
Het |
| Mpdz |
G |
A |
4: 81,221,891 (GRCm39) |
T1423I |
probably benign |
Het |
| Ncoa2 |
T |
C |
1: 13,218,600 (GRCm39) |
S1410G |
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,292,091 (GRCm39) |
N283S |
probably damaging |
Het |
| Nlrp14 |
T |
A |
7: 106,781,094 (GRCm39) |
L97* |
probably null |
Het |
| Olfm3 |
T |
G |
3: 114,916,393 (GRCm39) |
S442A |
probably damaging |
Het |
| Or10p1 |
A |
G |
10: 129,444,029 (GRCm39) |
V107A |
possibly damaging |
Het |
| Or14j10 |
T |
C |
17: 37,935,392 (GRCm39) |
I45V |
probably damaging |
Het |
| Or2ag12 |
T |
C |
7: 106,277,333 (GRCm39) |
Y120C |
probably damaging |
Het |
| Or5a1 |
T |
A |
19: 12,097,375 (GRCm39) |
S234C |
probably benign |
Het |
| Or5an10 |
T |
C |
19: 12,276,212 (GRCm39) |
T95A |
probably benign |
Het |
| Pank4 |
G |
A |
4: 155,065,007 (GRCm39) |
V769I |
probably benign |
Het |
| Pdgfrb |
G |
A |
18: 61,216,336 (GRCm39) |
D1065N |
probably damaging |
Het |
| Ppp1r12a |
G |
A |
10: 108,104,501 (GRCm39) |
S911N |
probably benign |
Het |
| Prdx6b |
A |
G |
2: 80,123,334 (GRCm39) |
T48A |
probably damaging |
Het |
| Pttg1ip |
A |
G |
10: 77,432,870 (GRCm39) |
K166E |
probably damaging |
Het |
| Rabgap1l |
T |
C |
1: 160,078,987 (GRCm39) |
D9G |
|
Het |
| Rpl13a |
C |
T |
7: 44,776,466 (GRCm39) |
G69S |
probably benign |
Het |
| Rps6ka5 |
T |
A |
12: 100,582,342 (GRCm39) |
I177F |
probably damaging |
Het |
| Rttn |
C |
A |
18: 89,078,603 (GRCm39) |
A1343E |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,575,539 (GRCm39) |
V4820I |
possibly damaging |
Het |
| Slc12a7 |
A |
G |
13: 73,938,891 (GRCm39) |
I223V |
possibly damaging |
Het |
| Slc9a3 |
G |
A |
13: 74,305,813 (GRCm39) |
V277M |
probably damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,724,351 (GRCm39) |
N276K |
probably benign |
Het |
| Spo11 |
A |
G |
2: 172,833,864 (GRCm39) |
I329V |
possibly damaging |
Het |
| Tcp11l2 |
A |
T |
10: 84,422,998 (GRCm39) |
D63V |
probably damaging |
Het |
| Tdrd3 |
G |
A |
14: 87,744,029 (GRCm39) |
W659* |
probably null |
Het |
| Thnsl2 |
T |
C |
6: 71,118,311 (GRCm39) |
D39G |
probably benign |
Het |
| Thumpd1 |
A |
T |
7: 119,316,085 (GRCm39) |
L288* |
probably null |
Het |
| Tram1l1 |
T |
C |
3: 124,115,556 (GRCm39) |
Y239H |
probably damaging |
Het |
| Usp38 |
T |
A |
8: 81,708,601 (GRCm39) |
E992D |
probably damaging |
Het |
| Usp45 |
A |
G |
4: 21,784,790 (GRCm39) |
T159A |
probably benign |
Het |
| Vmn1r218 |
C |
T |
13: 23,320,830 (GRCm39) |
T59I |
probably benign |
Het |
| Vmn2r70 |
T |
C |
7: 85,214,499 (GRCm39) |
I218V |
probably benign |
Het |
| Xpr1 |
T |
C |
1: 155,183,488 (GRCm39) |
I461V |
probably benign |
Het |
| Ydjc |
T |
C |
16: 16,964,869 (GRCm39) |
L8P |
probably damaging |
Het |
| Yme1l1 |
A |
T |
2: 23,050,232 (GRCm39) |
N21I |
possibly damaging |
Het |
| Zfhx4 |
T |
C |
3: 5,455,426 (GRCm39) |
L1140P |
probably benign |
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 |
|
|
R6958:Spata13
|
UTSW |
14 |
60,989,300 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
|
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'- AAGCTCAGAGGCAGTGTAGC -3'
Sequencing Primer
(F):5'- TCTACTCTGAGTACTGCAACAAC -3'
(R):5'- GCAATGCTGCCACATTACC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation