Incidental Mutation 'R9548:Spata13'
ID |
720269 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata13
|
Ensembl Gene |
ENSMUSG00000021990 |
Gene Name |
spermatogenesis associated 13 |
Synonyms |
ESTM11 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9548 (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 G
at 60991303 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 1019
(K1019E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123928
(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: K1019E
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000022566 Gene: ENSMUSG00000021990 AA Change: K1019E
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: K1019E
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000123928 Gene: ENSMUSG00000021990 AA Change: K1019E
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 benign
Transcript: ENSMUST00000162945
AA Change: K349E
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000123888 Gene: ENSMUSG00000021990 AA Change: K349E
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: 99.3%
- 20x: 97.5%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankfy1 |
G |
A |
11: 72,641,005 (GRCm39) |
|
probably null |
Het |
Arid1b |
A |
G |
17: 5,385,262 (GRCm39) |
Y1340C |
probably damaging |
Het |
Bcl2 |
C |
A |
1: 106,640,508 (GRCm39) |
A35S |
probably benign |
Het |
Brf2 |
A |
T |
8: 27,614,623 (GRCm39) |
S188T |
probably benign |
Het |
Carmil1 |
C |
A |
13: 24,460,516 (GRCm39) |
G21V |
probably damaging |
Het |
Cavin4 |
T |
C |
4: 48,663,956 (GRCm39) |
V112A |
probably benign |
Het |
Cd300lf |
T |
C |
11: 115,007,858 (GRCm39) |
E319G |
probably benign |
Het |
Cd44 |
A |
T |
2: 102,661,832 (GRCm39) |
D587E |
possibly damaging |
Het |
Cfap53 |
A |
T |
18: 74,438,040 (GRCm39) |
T239S |
possibly damaging |
Het |
Cma2 |
A |
C |
14: 56,211,256 (GRCm39) |
I239L |
probably damaging |
Het |
Cnot1 |
A |
T |
8: 96,482,854 (GRCm39) |
M733K |
probably benign |
Het |
Cyp2f2 |
A |
G |
7: 26,829,170 (GRCm39) |
D225G |
probably benign |
Het |
Cyp4f40 |
G |
A |
17: 32,890,158 (GRCm39) |
R276H |
probably benign |
Het |
Cytip |
A |
T |
2: 58,041,141 (GRCm39) |
F88L |
probably damaging |
Het |
Dnaaf2 |
T |
C |
12: 69,244,776 (GRCm39) |
N95S |
probably damaging |
Het |
Dnah5 |
C |
A |
15: 28,328,025 (GRCm39) |
T2133K |
possibly damaging |
Het |
Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
Elapor2 |
G |
A |
5: 9,490,859 (GRCm39) |
G623D |
probably damaging |
Het |
Epn2 |
A |
T |
11: 61,436,988 (GRCm39) |
S195T |
probably benign |
Het |
Exoc3 |
A |
T |
13: 74,330,285 (GRCm39) |
Y521N |
possibly damaging |
Het |
Fbxo10 |
C |
A |
4: 45,058,970 (GRCm39) |
V256L |
probably damaging |
Het |
Fis1 |
A |
T |
5: 136,991,907 (GRCm39) |
T34S |
probably benign |
Het |
Gm10309 |
A |
T |
17: 86,806,161 (GRCm39) |
C118S |
unknown |
Het |
Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
Hook1 |
T |
A |
4: 95,891,808 (GRCm39) |
V340E |
probably damaging |
Het |
Ifng |
C |
A |
10: 118,277,128 (GRCm39) |
H23Q |
probably benign |
Het |
Lect2 |
C |
T |
13: 56,694,660 (GRCm39) |
E32K |
probably benign |
Het |
Lrp1 |
T |
G |
10: 127,388,733 (GRCm39) |
T3239P |
probably damaging |
Het |
Lrrc14b |
T |
A |
13: 74,511,996 (GRCm39) |
Y28F |
probably benign |
Het |
Maml3 |
A |
T |
3: 51,763,791 (GRCm39) |
V391E |
possibly damaging |
Het |
Map3k8 |
C |
T |
18: 4,349,141 (GRCm39) |
R59H |
probably benign |
Het |
Med1 |
G |
T |
11: 98,070,884 (GRCm39) |
L120I |
possibly damaging |
Het |
Muc5b |
C |
A |
7: 141,421,648 (GRCm39) |
H4349N |
possibly damaging |
Het |
Myo1h |
C |
T |
5: 114,499,154 (GRCm39) |
P110S |
probably benign |
Het |
Nol10 |
T |
G |
12: 17,466,144 (GRCm39) |
I513S |
possibly damaging |
Het |
Nphs1 |
C |
T |
7: 30,180,875 (GRCm39) |
S1093F |
probably benign |
Het |
Or12e10 |
A |
T |
2: 87,641,097 (GRCm39) |
N311I |
probably damaging |
Het |
Or4b1b |
T |
C |
2: 90,111,991 (GRCm39) |
*309W |
probably null |
Het |
Or56b1b |
A |
T |
7: 108,164,334 (GRCm39) |
S223T |
possibly damaging |
Het |
Or5p72 |
A |
T |
7: 108,022,416 (GRCm39) |
T213S |
possibly damaging |
Het |
Or5w8 |
A |
T |
2: 87,688,040 (GRCm39) |
I174F |
probably damaging |
Het |
Pcdh17 |
A |
T |
14: 84,685,402 (GRCm39) |
Y623F |
possibly damaging |
Het |
Pdzd8 |
T |
A |
19: 59,289,826 (GRCm39) |
I525F |
probably benign |
Het |
Peak1 |
G |
T |
9: 56,113,917 (GRCm39) |
Q1675K |
probably benign |
Het |
Perm1 |
T |
C |
4: 156,302,290 (GRCm39) |
V278A |
probably benign |
Het |
Ppp2r5d |
G |
A |
17: 46,998,527 (GRCm39) |
R115C |
probably damaging |
Het |
Rnf169 |
A |
T |
7: 99,574,690 (GRCm39) |
L635Q |
probably damaging |
Het |
Sacs |
A |
G |
14: 61,440,692 (GRCm39) |
T913A |
probably benign |
Het |
Sh3bp1 |
A |
T |
15: 78,788,673 (GRCm39) |
I233F |
possibly damaging |
Het |
Skint9 |
T |
G |
4: 112,276,346 (GRCm39) |
L8F |
probably benign |
Het |
Slc1a4 |
A |
T |
11: 20,258,041 (GRCm39) |
N360K |
probably damaging |
Het |
Slc22a16 |
T |
A |
10: 40,460,865 (GRCm39) |
Y243* |
probably null |
Het |
Slc22a19 |
C |
A |
19: 7,659,219 (GRCm39) |
|
probably null |
Het |
Smarcal1 |
T |
C |
1: 72,671,999 (GRCm39) |
I840T |
possibly damaging |
Het |
Steap1 |
A |
G |
5: 5,790,700 (GRCm39) |
S83P |
possibly damaging |
Het |
Synj2bp |
T |
C |
12: 81,551,382 (GRCm39) |
H78R |
probably damaging |
Het |
Tcstv7a |
T |
A |
13: 120,289,924 (GRCm39) |
I91F |
probably benign |
Het |
Tjp3 |
T |
C |
10: 81,113,833 (GRCm39) |
E475G |
probably damaging |
Het |
Top3a |
A |
G |
11: 60,644,768 (GRCm39) |
V312A |
probably benign |
Het |
Traip |
C |
A |
9: 107,833,099 (GRCm39) |
T45N |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,573,691 (GRCm39) |
Y25734C |
probably damaging |
Het |
Unc79 |
T |
A |
12: 102,977,495 (GRCm39) |
V166D |
probably damaging |
Het |
Urgcp |
C |
A |
11: 5,667,622 (GRCm39) |
V282F |
possibly damaging |
Het |
Vmn1r184 |
G |
A |
7: 25,966,734 (GRCm39) |
S160N |
probably benign |
Het |
Wdfy3 |
T |
C |
5: 102,033,059 (GRCm39) |
D2231G |
probably damaging |
Het |
Zan |
C |
T |
5: 137,401,323 (GRCm39) |
G4132D |
unknown |
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 |
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 |
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'- TTACTCAGTGCCTCGTCTAGAC -3'
(R):5'- TTCAGGCTCATCAAAATCCCTC -3'
Sequencing Primer
(F):5'- AGTGCCTCGTCTAGACCATTAG -3'
(R):5'- GGCTCATCAAAATCCCTCCAAGTG -3'
|
Posted On |
2022-07-18 |