Incidental Mutation 'R8534:Spmap2l'
| ID |
659146 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spmap2l
|
| Ensembl Gene |
ENSMUSG00000029248 |
| Gene Name |
sperm microtubule associated protein 2 like |
| Synonyms |
1700023E05Rik, Thegl |
| MMRRC Submission |
068503-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R8534 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
77163879-77209382 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 77207325 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 361
(I361N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112814
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031161]
[ENSMUST00000117880]
|
| AlphaFold |
Q9DA15 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031161
AA Change: I361N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031161
Gene: ENSMUSG00000029248
AA Change: I361N
| 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 |
probably damaging
Transcript: ENSMUST00000117880
AA Change: I361N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112814
Gene: ENSMUSG00000029248
AA Change: I361N
| 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 |
|
| Meta Mutation Damage Score |
0.1399 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
C |
2: 19,545,153 (GRCm39) |
L100R |
probably damaging |
Het |
| 6820408C15Rik |
A |
G |
2: 152,283,182 (GRCm39) |
D282G |
probably damaging |
Het |
| Abcb11 |
G |
T |
2: 69,154,190 (GRCm39) |
N125K |
possibly damaging |
Het |
| Acbd7 |
A |
T |
2: 3,341,750 (GRCm39) |
D71V |
probably damaging |
Het |
| Adgrb1 |
A |
T |
15: 74,415,357 (GRCm39) |
T646S |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,534,887 (GRCm39) |
Y5793H |
probably benign |
Het |
| Agmo |
A |
G |
12: 37,302,538 (GRCm39) |
D125G |
probably damaging |
Het |
| Ahrr |
A |
G |
13: 74,368,799 (GRCm39) |
S125P |
probably damaging |
Het |
| B020011L13Rik |
C |
A |
1: 117,729,034 (GRCm39) |
H180Q |
probably benign |
Het |
| Cbfa2t3 |
T |
C |
8: 123,365,653 (GRCm39) |
D219G |
probably damaging |
Het |
| Ccdc187 |
A |
G |
2: 26,165,577 (GRCm39) |
S860P |
possibly damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,484,671 (GRCm39) |
Q471L |
probably benign |
Het |
| Cyp2c54 |
A |
C |
19: 40,036,030 (GRCm39) |
D293E |
probably damaging |
Het |
| Dnah1 |
G |
T |
14: 31,023,805 (GRCm39) |
N962K |
probably benign |
Het |
| Dst |
C |
T |
1: 34,229,388 (GRCm39) |
T2002I |
probably benign |
Het |
| Elavl1 |
A |
T |
8: 4,339,864 (GRCm39) |
N239K |
probably benign |
Het |
| Elmod3 |
A |
G |
6: 72,543,667 (GRCm39) |
F375L |
probably benign |
Het |
| G6pc2 |
T |
A |
2: 69,050,469 (GRCm39) |
N31K |
probably benign |
Het |
| Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
| Gm6569 |
G |
T |
15: 73,711,673 (GRCm39) |
|
probably benign |
Het |
| Insig1 |
C |
T |
5: 28,280,116 (GRCm39) |
S236L |
probably damaging |
Het |
| Itih4 |
A |
T |
14: 30,622,979 (GRCm39) |
N882I |
probably benign |
Het |
| Kmt5a |
C |
A |
5: 124,598,635 (GRCm39) |
D309E |
probably benign |
Het |
| Kndc1 |
C |
A |
7: 139,503,669 (GRCm39) |
T991N |
probably benign |
Het |
| Lingo1 |
T |
A |
9: 56,528,353 (GRCm39) |
T79S |
probably benign |
Het |
| Myh4 |
A |
T |
11: 67,134,335 (GRCm39) |
E330V |
probably benign |
Het |
| Nlrx1 |
A |
G |
9: 44,174,070 (GRCm39) |
V377A |
probably benign |
Het |
| Npy5r |
C |
A |
8: 67,134,688 (GRCm39) |
G35V |
probably benign |
Het |
| Or5b102 |
T |
A |
19: 13,041,432 (GRCm39) |
I219N |
probably damaging |
Het |
| Or7g33 |
C |
T |
9: 19,448,605 (GRCm39) |
G207D |
possibly damaging |
Het |
| Pabpn1l |
T |
C |
8: 123,349,358 (GRCm39) |
T20A |
probably benign |
Het |
| Pcf11 |
A |
G |
7: 92,302,432 (GRCm39) |
V1226A |
probably benign |
Het |
| Per2 |
G |
A |
1: 91,351,659 (GRCm39) |
T949M |
probably benign |
Het |
| Phc1 |
G |
A |
6: 122,315,539 (GRCm39) |
|
probably benign |
Het |
| Pias2 |
A |
G |
18: 77,185,083 (GRCm39) |
I55V |
possibly damaging |
Het |
| Pik3r2 |
A |
T |
8: 71,227,312 (GRCm39) |
S104T |
probably benign |
Het |
| Pip |
T |
C |
6: 41,828,421 (GRCm39) |
V85A |
probably benign |
Het |
| Pms2 |
T |
C |
5: 143,860,445 (GRCm39) |
V86A |
probably benign |
Het |
| Potefam1 |
G |
A |
2: 111,058,380 (GRCm39) |
P138S |
possibly damaging |
Het |
| Rab44 |
A |
G |
17: 29,363,547 (GRCm39) |
|
probably null |
Het |
| Rrbp1 |
A |
G |
2: 143,830,095 (GRCm39) |
S691P |
probably damaging |
Het |
| Ruvbl2 |
A |
T |
7: 45,079,118 (GRCm39) |
|
probably null |
Het |
| Setbp1 |
T |
C |
18: 78,826,542 (GRCm39) |
D1357G |
possibly damaging |
Het |
| Slc12a6 |
T |
A |
2: 112,174,312 (GRCm39) |
I476N |
probably damaging |
Het |
| Slc1a1 |
C |
T |
19: 28,882,746 (GRCm39) |
P337S |
probably damaging |
Het |
| Slc35b3 |
T |
A |
13: 39,128,566 (GRCm39) |
T174S |
probably benign |
Het |
| Slc4a4 |
A |
T |
5: 89,283,581 (GRCm39) |
I467F |
probably damaging |
Het |
| Slc50a1 |
G |
A |
3: 89,177,710 (GRCm39) |
|
probably null |
Het |
| Spink14 |
G |
A |
18: 44,164,079 (GRCm39) |
|
probably null |
Het |
| Tmem59 |
T |
C |
4: 107,043,082 (GRCm39) |
|
probably null |
Het |
| Tnr |
G |
A |
1: 159,746,585 (GRCm39) |
E1235K |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,869,459 (GRCm39) |
R2015S |
probably benign |
Het |
| Tsnaxip1 |
A |
G |
8: 106,565,370 (GRCm39) |
E132G |
probably damaging |
Het |
| Vps54 |
A |
G |
11: 21,227,706 (GRCm39) |
N93S |
probably benign |
Het |
| Wdr17 |
T |
G |
8: 55,101,265 (GRCm39) |
I994L |
probably benign |
Het |
| Zfat |
G |
T |
15: 68,037,696 (GRCm39) |
H926Q |
probably damaging |
Het |
| Zfp2 |
C |
T |
11: 50,791,627 (GRCm39) |
E139K |
possibly damaging |
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 |
|
IGL03036:Spmap2l
|
APN |
5 |
77,164,197 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAGTCAAGAGCTCAGACC -3'
(R):5'- CAAAGCCCACATTCTTTGCC -3'
Sequencing Primer
(F):5'- TTTTATAAAGCTGAGCTGGACACGC -3'
(R):5'- CCACATTCTTTGCCCTCCAC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation