Incidental Mutation 'R9639:Spesp1'
| ID |
725879 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spesp1
|
| Ensembl Gene |
ENSMUSG00000046846 |
| Gene Name |
sperm equatorial segment protein 1 |
| Synonyms |
4921508E09Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9639 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
62178011-62189461 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62180238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 223
(D223E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056949]
|
| AlphaFold |
Q9D5A0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056949
AA Change: D223E
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000058522
Gene: ENSMUSG00000046846
AA Change: D223E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:SPESP1
|
19 |
371 |
5.8e-155 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The encoded protein is a human alloantigen involved in sperm-egg binding and fusion. [provided by RefSeq, Apr 2010]
PHENOTYPE: Heterozygous and homozygous null mutant males show decreased fertilization frequency and delayed fertilization, otherwise homozygous null mice were healthy and showed no overt developmental abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,893,345 (GRCm39) |
D1265G |
probably benign |
Het |
| Baz2b |
T |
A |
2: 59,731,828 (GRCm39) |
N2070I |
probably benign |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Chd9 |
A |
T |
8: 91,760,840 (GRCm39) |
E2195V |
probably null |
Het |
| Cracd |
T |
C |
5: 77,005,997 (GRCm39) |
V786A |
unknown |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Ddx11 |
A |
G |
17: 66,437,012 (GRCm39) |
D102G |
|
Het |
| Egf |
T |
C |
3: 129,513,949 (GRCm39) |
T421A |
possibly damaging |
Het |
| Fbxo11 |
A |
G |
17: 88,316,107 (GRCm39) |
V365A |
|
Het |
| Gmps |
T |
A |
3: 63,922,938 (GRCm39) |
S634T |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,946,138 (GRCm39) |
K187R |
probably benign |
Het |
| Lyplal1 |
A |
T |
1: 185,849,409 (GRCm39) |
C13* |
probably null |
Het |
| Mycbp2 |
A |
G |
14: 103,433,817 (GRCm39) |
W2255R |
probably damaging |
Het |
| Myo5c |
C |
A |
9: 75,165,477 (GRCm39) |
H428Q |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,333,948 (GRCm39) |
T1005A |
possibly damaging |
Het |
| Or2bd2 |
A |
T |
7: 6,443,290 (GRCm39) |
R130S |
probably benign |
Het |
| Pcdh12 |
C |
T |
18: 38,402,032 (GRCm39) |
M1123I |
probably damaging |
Het |
| Pdzrn3 |
A |
G |
6: 101,146,172 (GRCm39) |
S393P |
probably benign |
Het |
| Pgr |
A |
T |
9: 8,900,994 (GRCm39) |
S176C |
possibly damaging |
Het |
| Ppp2r3d |
T |
C |
9: 101,022,713 (GRCm39) |
N312S |
probably benign |
Het |
| Qrich2 |
G |
A |
11: 116,346,924 (GRCm39) |
P1300L |
probably benign |
Het |
| Sap130 |
T |
C |
18: 31,844,789 (GRCm39) |
|
probably null |
Het |
| Slc15a3 |
T |
A |
19: 10,820,717 (GRCm39) |
Y111* |
probably null |
Het |
| Slc26a9 |
A |
G |
1: 131,678,409 (GRCm39) |
E25G |
probably damaging |
Het |
| Slc2a3 |
A |
G |
6: 122,714,199 (GRCm39) |
F110L |
probably benign |
Het |
| St18 |
T |
C |
1: 6,929,246 (GRCm39) |
I46T |
|
Het |
| Trmt6 |
T |
A |
2: 132,650,862 (GRCm39) |
K249* |
probably null |
Het |
| Ttll10 |
A |
T |
4: 156,119,503 (GRCm39) |
I632K |
probably benign |
Het |
| Vmn1r216 |
A |
G |
13: 23,283,518 (GRCm39) |
N67S |
probably benign |
Het |
| Vmn1r28 |
C |
T |
6: 58,242,996 (GRCm39) |
Q280* |
probably null |
Het |
| Vmn2r38 |
T |
G |
7: 9,078,063 (GRCm39) |
D773A |
probably damaging |
Het |
| Vmn2r92 |
A |
G |
17: 18,372,352 (GRCm39) |
Y54C |
probably damaging |
Het |
| Ywhae |
G |
A |
11: 75,650,248 (GRCm39) |
G237S |
probably benign |
Het |
| Zswim5 |
A |
G |
4: 116,836,714 (GRCm39) |
E666G |
probably damaging |
Het |
|
| Other mutations in Spesp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02557:Spesp1
|
APN |
9 |
62,180,416 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
BB001:Spesp1
|
UTSW |
9 |
62,180,733 (GRCm39) |
missense |
probably benign |
|
|
BB011:Spesp1
|
UTSW |
9 |
62,180,733 (GRCm39) |
missense |
probably benign |
|
|
R0735:Spesp1
|
UTSW |
9 |
62,179,967 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1051:Spesp1
|
UTSW |
9 |
62,179,924 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2266:Spesp1
|
UTSW |
9 |
62,180,834 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3153:Spesp1
|
UTSW |
9 |
62,189,376 (GRCm39) |
start gained |
probably benign |
|
|
R3154:Spesp1
|
UTSW |
9 |
62,189,376 (GRCm39) |
start gained |
probably benign |
|
|
R3737:Spesp1
|
UTSW |
9 |
62,180,318 (GRCm39) |
missense |
probably benign |
|
|
R4035:Spesp1
|
UTSW |
9 |
62,180,318 (GRCm39) |
missense |
probably benign |
|
|
R5425:Spesp1
|
UTSW |
9 |
62,189,331 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5461:Spesp1
|
UTSW |
9 |
62,180,014 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6278:Spesp1
|
UTSW |
9 |
62,179,921 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6475:Spesp1
|
UTSW |
9 |
62,179,715 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6941:Spesp1
|
UTSW |
9 |
62,180,152 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7003:Spesp1
|
UTSW |
9 |
62,189,302 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7611:Spesp1
|
UTSW |
9 |
62,179,987 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7924:Spesp1
|
UTSW |
9 |
62,180,733 (GRCm39) |
missense |
probably benign |
|
|
R8694:Spesp1
|
UTSW |
9 |
62,180,242 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8993:Spesp1
|
UTSW |
9 |
62,180,552 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9044:Spesp1
|
UTSW |
9 |
62,180,623 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9684:Spesp1
|
UTSW |
9 |
62,180,545 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTATTATTGCCACCAAGAAGCC -3'
(R):5'- AGAACTGGAGTCTAGTCGCC -3'
Sequencing Primer
(F):5'- GCCCCTGCTGAATCTCCG -3'
(R):5'- TAGTCGCCTGCCTACTGAG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation