Incidental Mutation 'IGL03036:Spmap2l'
| ID |
408685 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spmap2l
|
| Ensembl Gene |
ENSMUSG00000029248 |
| Gene Name |
sperm microtubule associated protein 2 like |
| Synonyms |
1700023E05Rik, Thegl |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
IGL03036
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
77163879-77209382 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 77164197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 67
(K67Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112814
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031161]
[ENSMUST00000117880]
|
| AlphaFold |
Q9DA15 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031161
AA Change: K67Q
PolyPhen 2
Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000031161
Gene: ENSMUSG00000029248
AA Change: K67Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
65 |
N/A |
INTRINSIC |
|
THEG
|
172 |
190 |
4.56e2 |
SMART |
|
THEG
|
212 |
231 |
5.84e0 |
SMART |
|
THEG
|
258 |
277 |
3.1e-1 |
SMART |
|
THEG
|
291 |
310 |
8.37e2 |
SMART |
|
THEG
|
327 |
346 |
7.65e1 |
SMART |
|
THEG
|
367 |
386 |
3.61e1 |
SMART |
|
THEG
|
403 |
422 |
1.15e1 |
SMART |
|
THEG
|
440 |
459 |
9.98e0 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117880
AA Change: K67Q
PolyPhen 2
Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112814
Gene: ENSMUSG00000029248
AA Change: K67Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
65 |
N/A |
INTRINSIC |
|
THEG
|
172 |
190 |
4.56e2 |
SMART |
|
THEG
|
212 |
231 |
5.84e0 |
SMART |
|
THEG
|
258 |
277 |
3.1e-1 |
SMART |
|
THEG
|
291 |
310 |
8.37e2 |
SMART |
|
THEG
|
327 |
346 |
7.65e1 |
SMART |
|
THEG
|
367 |
386 |
3.61e1 |
SMART |
|
THEG
|
403 |
422 |
1.15e1 |
SMART |
|
THEG
|
440 |
459 |
9.98e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129353
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17a |
A |
T |
10: 80,421,534 (GRCm39) |
Y145* |
probably null |
Het |
| Afdn |
T |
G |
17: 14,108,350 (GRCm39) |
I1291S |
probably benign |
Het |
| Arfgap3 |
T |
G |
15: 83,191,127 (GRCm39) |
I16L |
possibly damaging |
Het |
| Bbs12 |
T |
A |
3: 37,373,343 (GRCm39) |
H45Q |
possibly damaging |
Het |
| Brpf3 |
T |
C |
17: 29,043,022 (GRCm39) |
L1021P |
possibly damaging |
Het |
| Cep170 |
A |
G |
1: 176,596,903 (GRCm39) |
S485P |
possibly damaging |
Het |
| Cgref1 |
A |
T |
5: 31,090,937 (GRCm39) |
N292K |
probably damaging |
Het |
| Chst3 |
A |
T |
10: 60,022,261 (GRCm39) |
Y195* |
probably null |
Het |
| Clmn |
T |
C |
12: 104,740,782 (GRCm39) |
Y125C |
probably damaging |
Het |
| Col13a1 |
A |
G |
10: 61,729,692 (GRCm39) |
|
probably null |
Het |
| Cpeb3 |
A |
T |
19: 37,002,348 (GRCm39) |
I688N |
probably damaging |
Het |
| Cpn2 |
A |
T |
16: 30,079,647 (GRCm39) |
L18H |
probably benign |
Het |
| Crybg3 |
T |
A |
16: 59,375,542 (GRCm39) |
H1904L |
possibly damaging |
Het |
| Csde1 |
C |
T |
3: 102,951,155 (GRCm39) |
P249S |
probably damaging |
Het |
| Dcaf1 |
T |
C |
9: 106,721,339 (GRCm39) |
L377P |
probably damaging |
Het |
| Dmwd |
A |
T |
7: 18,815,054 (GRCm39) |
K568M |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,712,134 (GRCm39) |
I90T |
probably damaging |
Het |
| Dytn |
A |
G |
1: 63,680,281 (GRCm39) |
I426T |
probably damaging |
Het |
| Edc4 |
G |
A |
8: 106,613,943 (GRCm39) |
|
probably null |
Het |
| Elac1 |
G |
T |
18: 73,871,985 (GRCm39) |
Q337K |
probably benign |
Het |
| Exd2 |
G |
T |
12: 80,536,185 (GRCm39) |
A272S |
probably damaging |
Het |
| F13b |
A |
G |
1: 139,435,853 (GRCm39) |
I220V |
possibly damaging |
Het |
| Fblim1 |
G |
T |
4: 141,310,435 (GRCm39) |
R276S |
possibly damaging |
Het |
| Fn1 |
A |
C |
1: 71,668,932 (GRCm39) |
L671R |
probably damaging |
Het |
| Frem1 |
A |
T |
4: 82,877,576 (GRCm39) |
F1334I |
possibly damaging |
Het |
| H2-T23 |
T |
A |
17: 36,343,249 (GRCm39) |
I43F |
possibly damaging |
Het |
| Hp1bp3 |
G |
A |
4: 137,956,043 (GRCm39) |
G202D |
probably damaging |
Het |
| Kdm5b |
A |
G |
1: 134,536,675 (GRCm39) |
M632V |
probably damaging |
Het |
| Klra5 |
T |
A |
6: 129,885,830 (GRCm39) |
S20C |
probably damaging |
Het |
| Lancl1 |
A |
T |
1: 67,046,074 (GRCm39) |
C276S |
probably damaging |
Het |
| Lect2 |
A |
G |
13: 56,690,520 (GRCm39) |
*152Q |
probably null |
Het |
| Maff |
C |
A |
15: 79,241,658 (GRCm39) |
S25* |
probably null |
Het |
| Mtr |
A |
G |
13: 12,262,263 (GRCm39) |
L171P |
probably damaging |
Het |
| Ndufs1 |
A |
T |
1: 63,202,855 (GRCm39) |
Y236* |
probably null |
Het |
| Neb |
A |
C |
2: 52,134,165 (GRCm39) |
Y3273D |
probably damaging |
Het |
| Nup133 |
A |
T |
8: 124,673,333 (GRCm39) |
I66K |
probably benign |
Het |
| Or4c110 |
T |
C |
2: 88,832,459 (GRCm39) |
M58V |
possibly damaging |
Het |
| Psmd14 |
A |
G |
2: 61,614,205 (GRCm39) |
Y200C |
probably damaging |
Het |
| Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
| Ptk2b |
T |
A |
14: 66,411,344 (GRCm39) |
|
probably benign |
Het |
| Pum3 |
G |
A |
19: 27,398,713 (GRCm39) |
T279M |
probably damaging |
Het |
| Rabl6 |
C |
T |
2: 25,474,868 (GRCm39) |
G614D |
probably benign |
Het |
| Ripk3 |
T |
C |
14: 56,024,796 (GRCm39) |
D128G |
probably benign |
Het |
| Serinc4 |
A |
T |
2: 121,270,039 (GRCm39) |
|
probably benign |
Het |
| Slco1a8 |
T |
G |
6: 141,954,333 (GRCm39) |
I47L |
possibly damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,235,902 (GRCm39) |
S322P |
probably benign |
Het |
| Srebf1 |
A |
T |
11: 60,111,284 (GRCm39) |
I29N |
possibly damaging |
Het |
| Stk38l |
T |
C |
6: 146,670,372 (GRCm39) |
L238S |
probably damaging |
Het |
| Supt20 |
T |
A |
3: 54,616,723 (GRCm39) |
C298* |
probably null |
Het |
| Tbc1d19 |
A |
G |
5: 54,054,389 (GRCm39) |
D459G |
probably damaging |
Het |
| Ulk2 |
A |
T |
11: 61,725,660 (GRCm39) |
L139M |
probably damaging |
Het |
| Unc13b |
A |
G |
4: 43,235,249 (GRCm39) |
N3279S |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,596,818 (GRCm39) |
R3853G |
possibly damaging |
Het |
| Usp7 |
C |
T |
16: 8,556,078 (GRCm39) |
M24I |
probably benign |
Het |
| Vil1 |
A |
G |
1: 74,458,771 (GRCm39) |
T131A |
probably damaging |
Het |
| Vmn2r2 |
C |
T |
3: 64,024,321 (GRCm39) |
M753I |
probably benign |
Het |
| Vmn2r74 |
A |
T |
7: 85,601,900 (GRCm39) |
Y579* |
probably null |
Het |
| Zdhhc3 |
A |
T |
9: 122,929,582 (GRCm39) |
Y18N |
probably damaging |
Het |
| Zfp609 |
C |
T |
9: 65,609,927 (GRCm39) |
S1012N |
possibly damaging |
Het |
| Zfr2 |
A |
T |
10: 81,077,985 (GRCm39) |
M271L |
probably benign |
Het |
|
| Other mutations in Spmap2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00582:Spmap2l
|
APN |
5 |
77,208,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02008:Spmap2l
|
APN |
5 |
77,208,605 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02014:Spmap2l
|
APN |
5 |
77,195,002 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02525:Spmap2l
|
APN |
5 |
77,164,400 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03200:Spmap2l
|
APN |
5 |
77,208,711 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL03302:Spmap2l
|
APN |
5 |
77,202,423 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0242:Spmap2l
|
UTSW |
5 |
77,164,152 (GRCm39) |
nonsense |
probably null |
|
|
R0242:Spmap2l
|
UTSW |
5 |
77,164,152 (GRCm39) |
nonsense |
probably null |
|
|
R0483:Spmap2l
|
UTSW |
5 |
77,185,204 (GRCm39) |
splice site |
probably benign |
|
|
R1875:Spmap2l
|
UTSW |
5 |
77,202,431 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2121:Spmap2l
|
UTSW |
5 |
77,208,605 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2232:Spmap2l
|
UTSW |
5 |
77,207,252 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2280:Spmap2l
|
UTSW |
5 |
77,207,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2281:Spmap2l
|
UTSW |
5 |
77,207,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4422:Spmap2l
|
UTSW |
5 |
77,202,383 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4423:Spmap2l
|
UTSW |
5 |
77,202,383 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4424:Spmap2l
|
UTSW |
5 |
77,202,383 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4935:Spmap2l
|
UTSW |
5 |
77,185,200 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5041:Spmap2l
|
UTSW |
5 |
77,203,928 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5175:Spmap2l
|
UTSW |
5 |
77,164,317 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5560:Spmap2l
|
UTSW |
5 |
77,164,333 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6086:Spmap2l
|
UTSW |
5 |
77,209,152 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6193:Spmap2l
|
UTSW |
5 |
77,164,183 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7070:Spmap2l
|
UTSW |
5 |
77,195,124 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7453:Spmap2l
|
UTSW |
5 |
77,208,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7703:Spmap2l
|
UTSW |
5 |
77,164,444 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8534:Spmap2l
|
UTSW |
5 |
77,207,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8899:Spmap2l
|
UTSW |
5 |
77,185,200 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9126:Spmap2l
|
UTSW |
5 |
77,164,453 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9525:Spmap2l
|
UTSW |
5 |
77,195,138 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF007:Spmap2l
|
UTSW |
5 |
77,164,255 (GRCm39) |
small insertion |
probably benign |
|
|
RF010:Spmap2l
|
UTSW |
5 |
77,164,274 (GRCm39) |
small insertion |
probably benign |
|
|
RF014:Spmap2l
|
UTSW |
5 |
77,164,247 (GRCm39) |
small insertion |
probably benign |
|
|
RF016:Spmap2l
|
UTSW |
5 |
77,164,255 (GRCm39) |
small insertion |
probably benign |
|
|
RF020:Spmap2l
|
UTSW |
5 |
77,164,247 (GRCm39) |
small insertion |
probably benign |
|
|
RF028:Spmap2l
|
UTSW |
5 |
77,164,248 (GRCm39) |
small insertion |
probably benign |
|
|
RF030:Spmap2l
|
UTSW |
5 |
77,164,248 (GRCm39) |
small insertion |
probably benign |
|
|
RF031:Spmap2l
|
UTSW |
5 |
77,164,257 (GRCm39) |
small insertion |
probably benign |
|
|
RF033:Spmap2l
|
UTSW |
5 |
77,164,276 (GRCm39) |
small insertion |
probably benign |
|
|
RF033:Spmap2l
|
UTSW |
5 |
77,164,252 (GRCm39) |
small insertion |
probably benign |
|
|
RF036:Spmap2l
|
UTSW |
5 |
77,164,276 (GRCm39) |
small insertion |
probably benign |
|
|
RF037:Spmap2l
|
UTSW |
5 |
77,164,268 (GRCm39) |
small insertion |
probably benign |
|
|
RF039:Spmap2l
|
UTSW |
5 |
77,164,249 (GRCm39) |
small insertion |
probably benign |
|
|
RF044:Spmap2l
|
UTSW |
5 |
77,164,252 (GRCm39) |
small insertion |
probably benign |
|
|
RF046:Spmap2l
|
UTSW |
5 |
77,164,250 (GRCm39) |
small insertion |
probably benign |
|
|
RF055:Spmap2l
|
UTSW |
5 |
77,164,250 (GRCm39) |
small insertion |
probably benign |
|
|
RF060:Spmap2l
|
UTSW |
5 |
77,164,274 (GRCm39) |
small insertion |
probably benign |
|
|
RF063:Spmap2l
|
UTSW |
5 |
77,164,273 (GRCm39) |
small insertion |
probably benign |
|
|
RF064:Spmap2l
|
UTSW |
5 |
77,164,262 (GRCm39) |
small insertion |
probably benign |
|
|
Z1176:Spmap2l
|
UTSW |
5 |
77,208,641 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2016-08-02 |
Incidental Mutation