Incidental Mutation 'R4522:Spem1'
| ID |
500662 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spem1
|
| Ensembl Gene |
ENSMUSG00000041165 |
| Gene Name |
spermatid maturation 1 |
| Synonyms |
1700095G12Rik |
| MMRRC Submission |
041765-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R4522 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
69711697-69712991 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 69712631 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045771]
[ENSMUST00000045771]
[ENSMUST00000056484]
[ENSMUST00000056941]
[ENSMUST00000108634]
|
| AlphaFold |
Q5F289 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045771
|
| SMART Domains |
Protein: ENSMUSP00000037500
Gene: ENSMUSG00000041165
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spem1
|
12 |
196 |
3.7e-23 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000045771
|
| SMART Domains |
Protein: ENSMUSP00000037500
Gene: ENSMUSG00000041165
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ascc3 |
A |
G |
10: 50,536,766 (GRCm39) |
N700D |
probably benign |
Het |
| Babam2 |
G |
A |
5: 32,164,586 (GRCm39) |
V287M |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 86,080,627 (GRCm39) |
I146M |
possibly damaging |
Het |
| Cacna1b |
C |
T |
2: 24,544,442 (GRCm39) |
R1248H |
probably damaging |
Het |
| Ccdc88c |
G |
T |
12: 100,879,591 (GRCm39) |
S1843R |
possibly damaging |
Het |
| Cfap47 |
A |
T |
X: 78,553,601 (GRCm39) |
N291K |
possibly damaging |
Het |
| Chaf1b |
G |
A |
16: 93,698,183 (GRCm39) |
A485T |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,850,461 (GRCm39) |
R1594G |
probably damaging |
Het |
| Fbxo41 |
A |
G |
6: 85,461,024 (GRCm39) |
I228T |
probably damaging |
Het |
| Gm3739 |
T |
A |
14: 18,505,267 (GRCm39) |
K86* |
probably null |
Het |
| Mark2 |
A |
T |
19: 7,263,313 (GRCm39) |
D151E |
probably damaging |
Het |
| Nop2 |
G |
T |
6: 125,110,515 (GRCm39) |
R47L |
probably damaging |
Het |
| Nwd1 |
A |
T |
8: 73,397,579 (GRCm39) |
D606V |
probably damaging |
Het |
| Or8w1 |
T |
A |
2: 87,465,495 (GRCm39) |
I199L |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Pcbp1 |
T |
C |
6: 86,502,032 (GRCm39) |
N289S |
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,512,763 (GRCm39) |
S21P |
possibly damaging |
Het |
| Ptpn18 |
T |
C |
1: 34,512,041 (GRCm39) |
L55P |
probably benign |
Het |
| Rpl10l |
T |
C |
12: 66,330,512 (GRCm39) |
D207G |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sec23b |
T |
A |
2: 144,420,286 (GRCm39) |
I450N |
possibly damaging |
Het |
| Speg |
A |
G |
1: 75,404,974 (GRCm39) |
E2922G |
probably damaging |
Het |
| Stxbp3-ps |
A |
T |
19: 9,536,474 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
| Tmod2 |
T |
C |
9: 75,499,866 (GRCm39) |
T129A |
probably benign |
Het |
| Ttc28 |
A |
G |
5: 111,428,038 (GRCm39) |
T1845A |
probably benign |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,596,822 (GRCm39) |
T3854M |
probably damaging |
Het |
| Vmn2r72 |
T |
A |
7: 85,401,134 (GRCm39) |
H95L |
probably benign |
Het |
| Xdh |
C |
A |
17: 74,205,339 (GRCm39) |
G1042V |
probably damaging |
Het |
| Zfp105 |
T |
A |
9: 122,759,121 (GRCm39) |
V264E |
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 |
|
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 |
|
R5404:Spem1
|
UTSW |
11 |
69,711,763 (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'- TAGGTCTGCTTCCTCAAGGG -3'
(R):5'- ACATTGGCATCAATTTGGTGACC -3'
Sequencing Primer
(F):5'- CAGCTTCCCAAGTGAAGTACTGG -3'
(R):5'- GCATCAATTTGGTGACCCTGGTC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation