Incidental Mutation 'R5404:Spem1'
ID |
428636 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spem1
|
Ensembl Gene |
ENSMUSG00000041165 |
Gene Name |
spermatid maturation 1 |
Synonyms |
1700095G12Rik |
MMRRC Submission |
042975-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R5404 (G1)
|
Quality Score |
214 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
69711697-69712991 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 69711763 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 300
(K300N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037500
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045771]
[ENSMUST00000056484]
[ENSMUST00000056941]
[ENSMUST00000108634]
|
AlphaFold |
Q5F289 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045771
AA Change: K300N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000037500 Gene: ENSMUSG00000041165 AA Change: K300N
Domain | Start | End | E-Value | Type |
Pfam:Spem1
|
12 |
196 |
3.7e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000056484
|
SMART Domains |
Protein: ENSMUSP00000053097 Gene: ENSMUSG00000051790
Domain | Start | End | E-Value | Type |
Pfam:COesterase
|
31 |
601 |
1.6e-199 |
PFAM |
Pfam:Abhydrolase_3
|
180 |
372 |
4.8e-9 |
PFAM |
low complexity region
|
630 |
652 |
N/A |
INTRINSIC |
transmembrane domain
|
678 |
700 |
N/A |
INTRINSIC |
low complexity region
|
702 |
712 |
N/A |
INTRINSIC |
low complexity region
|
713 |
731 |
N/A |
INTRINSIC |
low complexity region
|
782 |
823 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000056941
|
SMART Domains |
Protein: ENSMUSP00000051204 Gene: ENSMUSG00000044084
Domain | Start | End | E-Value | Type |
Pfam:Spem1
|
1 |
261 |
2e-121 |
PFAM |
low complexity region
|
281 |
294 |
N/A |
INTRINSIC |
low complexity region
|
478 |
494 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108634
|
SMART Domains |
Protein: ENSMUSP00000104274 Gene: ENSMUSG00000051790
Domain | Start | End | E-Value | Type |
Pfam:COesterase
|
30 |
601 |
2e-186 |
PFAM |
Pfam:Abhydrolase_3
|
180 |
327 |
3.3e-9 |
PFAM |
low complexity region
|
630 |
652 |
N/A |
INTRINSIC |
transmembrane domain
|
678 |
700 |
N/A |
INTRINSIC |
low complexity region
|
702 |
712 |
N/A |
INTRINSIC |
low complexity region
|
713 |
731 |
N/A |
INTRINSIC |
low complexity region
|
782 |
823 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Male mice homozygous for a null allele display infertility, asthenozoospermia, teratozoospermia, and impaired spermiogenesis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1bg |
T |
C |
15: 60,791,545 (GRCm39) |
H297R |
probably benign |
Het |
Ccnk |
A |
T |
12: 108,161,882 (GRCm39) |
K262N |
possibly damaging |
Het |
Clec4b2 |
A |
T |
6: 123,158,308 (GRCm39) |
Y58F |
probably benign |
Het |
Cp |
A |
C |
3: 20,043,292 (GRCm39) |
T1027P |
possibly damaging |
Het |
Cpox |
G |
A |
16: 58,495,649 (GRCm39) |
G322D |
probably damaging |
Het |
Cry1 |
T |
C |
10: 85,020,283 (GRCm39) |
N18S |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Dock10 |
A |
G |
1: 80,481,630 (GRCm39) |
|
probably benign |
Het |
Fance |
A |
T |
17: 28,537,034 (GRCm39) |
R58W |
probably null |
Het |
Fermt1 |
T |
C |
2: 132,776,789 (GRCm39) |
D233G |
possibly damaging |
Het |
Gabpa |
T |
A |
16: 84,657,351 (GRCm39) |
Y409N |
probably damaging |
Het |
Gpr162 |
A |
G |
6: 124,838,606 (GRCm39) |
S15P |
possibly damaging |
Het |
Grid2 |
T |
A |
6: 63,907,894 (GRCm39) |
I178N |
probably damaging |
Het |
Il17re |
T |
C |
6: 113,446,063 (GRCm39) |
V233A |
probably benign |
Het |
Lemd3 |
G |
A |
10: 120,767,863 (GRCm39) |
Q672* |
probably null |
Het |
Myh15 |
A |
G |
16: 48,980,341 (GRCm39) |
T1488A |
probably benign |
Het |
Narf |
T |
A |
11: 121,133,452 (GRCm39) |
H84Q |
probably benign |
Het |
Nedd1 |
C |
T |
10: 92,552,054 (GRCm39) |
V69I |
probably benign |
Het |
Nfil3 |
G |
A |
13: 53,122,091 (GRCm39) |
S271F |
probably damaging |
Het |
Npc1 |
A |
G |
18: 12,346,356 (GRCm39) |
L280P |
possibly damaging |
Het |
Or2n1e |
T |
A |
17: 38,586,517 (GRCm39) |
L285* |
probably null |
Het |
Or4p20 |
C |
T |
2: 88,254,145 (GRCm39) |
V75M |
probably damaging |
Het |
Or51a25 |
T |
A |
7: 102,372,807 (GRCm39) |
I297F |
possibly damaging |
Het |
Poli |
A |
G |
18: 70,642,503 (GRCm39) |
S503P |
probably benign |
Het |
Rbm5 |
T |
C |
9: 107,642,752 (GRCm39) |
E94G |
probably damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Rps6ka5 |
T |
C |
12: 100,582,352 (GRCm39) |
I173M |
probably damaging |
Het |
Slc40a1 |
A |
G |
1: 45,951,488 (GRCm39) |
L223P |
probably damaging |
Het |
Smg1 |
T |
C |
7: 117,806,131 (GRCm39) |
K213E |
probably damaging |
Het |
Tchh |
A |
G |
3: 93,354,982 (GRCm39) |
E1474G |
unknown |
Het |
Tenm4 |
A |
T |
7: 96,543,887 (GRCm39) |
R1968W |
probably damaging |
Het |
Tshz2 |
A |
T |
2: 169,726,240 (GRCm39) |
M279L |
probably benign |
Het |
Tuba3a |
G |
T |
6: 125,258,555 (GRCm39) |
T145K |
possibly damaging |
Het |
|
Other mutations in Spem1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00902:Spem1
|
APN |
11 |
69,712,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R0118:Spem1
|
UTSW |
11 |
69,712,371 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0487:Spem1
|
UTSW |
11 |
69,712,691 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0734:Spem1
|
UTSW |
11 |
69,712,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R2483:Spem1
|
UTSW |
11 |
69,712,344 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4522:Spem1
|
UTSW |
11 |
69,712,631 (GRCm39) |
critical splice donor site |
probably null |
|
R4866:Spem1
|
UTSW |
11 |
69,711,755 (GRCm39) |
missense |
probably damaging |
1.00 |
R5297:Spem1
|
UTSW |
11 |
69,711,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R5672:Spem1
|
UTSW |
11 |
69,712,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R5989:Spem1
|
UTSW |
11 |
69,711,951 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6803:Spem1
|
UTSW |
11 |
69,711,974 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7234:Spem1
|
UTSW |
11 |
69,712,630 (GRCm39) |
critical splice donor site |
probably null |
|
R7631:Spem1
|
UTSW |
11 |
69,712,409 (GRCm39) |
missense |
probably benign |
0.00 |
R9137:Spem1
|
UTSW |
11 |
69,712,433 (GRCm39) |
missense |
probably benign |
|
R9321:Spem1
|
UTSW |
11 |
69,712,661 (GRCm39) |
missense |
probably benign |
0.01 |
R9373:Spem1
|
UTSW |
11 |
69,712,640 (GRCm39) |
missense |
probably benign |
0.01 |
R9461:Spem1
|
UTSW |
11 |
69,711,741 (GRCm39) |
missense |
probably benign |
0.10 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTAGGAGGGCAAGACATTG -3'
(R):5'- TGTTGAGGGTGAGCAAGCAC -3'
Sequencing Primer
(F):5'- AGACATTGACAAGGGCCCCG -3'
(R):5'- TGAGCAAGCACAGGGCC -3'
|
Posted On |
2016-09-06 |