Incidental Mutation 'R0088:Eqtn'
| ID |
19996 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eqtn
|
| Ensembl Gene |
ENSMUSG00000028575 |
| Gene Name |
equatorin, sperm acrosome associated |
| Synonyms |
Afaf, equatorin, 1700028B15Rik, 4930579C15Rik |
| MMRRC Submission |
038375-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R0088 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
94795504-94817080 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94808227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 192
(T192A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030309]
[ENSMUST00000107097]
|
| AlphaFold |
Q9D9V2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030309
AA Change: T192A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030309
Gene: ENSMUSG00000028575
AA Change: T192A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Afaf
|
64 |
252 |
1.2e-95 |
PFAM |
|
low complexity region
|
259 |
272 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107097
AA Change: T192A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102714
Gene: ENSMUSG00000028575
AA Change: T192A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Afaf
|
64 |
250 |
1.1e-86 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.8%
|
| Validation Efficiency |
82% (32/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
T |
C |
8: 25,404,083 (GRCm39) |
K243R |
probably damaging |
Het |
| Akap9 |
C |
A |
5: 4,011,946 (GRCm39) |
T883K |
probably benign |
Het |
| Arhgap5 |
G |
T |
12: 52,563,331 (GRCm39) |
D101Y |
probably damaging |
Het |
| Bnc1 |
T |
G |
7: 81,628,246 (GRCm39) |
N39T |
possibly damaging |
Het |
| Carnmt1 |
T |
A |
19: 18,655,217 (GRCm39) |
H123Q |
probably benign |
Het |
| Cdh24 |
T |
C |
14: 54,871,171 (GRCm39) |
D92G |
probably damaging |
Het |
| Eomes |
A |
G |
9: 118,307,741 (GRCm39) |
E5G |
probably damaging |
Het |
| Fam110c |
T |
C |
12: 31,125,217 (GRCm39) |
V393A |
probably damaging |
Het |
| Fbll1 |
C |
A |
11: 35,688,967 (GRCm39) |
A99S |
possibly damaging |
Het |
| Il1rl2 |
A |
T |
1: 40,404,213 (GRCm39) |
I445F |
possibly damaging |
Het |
| Ipo8 |
T |
C |
6: 148,703,434 (GRCm39) |
T400A |
probably benign |
Het |
| Iqsec3 |
T |
C |
6: 121,450,248 (GRCm39) |
E92G |
probably damaging |
Het |
| Itpr2 |
C |
T |
6: 146,142,683 (GRCm39) |
V1679M |
probably benign |
Het |
| Kif2a |
G |
A |
13: 107,111,940 (GRCm39) |
A478V |
probably damaging |
Het |
| Lingo4 |
A |
G |
3: 94,309,340 (GRCm39) |
S93G |
probably benign |
Het |
| Mrpl37 |
A |
G |
4: 106,921,621 (GRCm39) |
S203P |
possibly damaging |
Het |
| Ndel1 |
A |
C |
11: 68,724,246 (GRCm39) |
S242R |
probably damaging |
Het |
| Nfatc3 |
T |
A |
8: 106,854,574 (GRCm39) |
M1036K |
possibly damaging |
Het |
| Ngrn |
T |
C |
7: 79,914,203 (GRCm39) |
I118T |
probably damaging |
Het |
| Or10d5 |
A |
G |
9: 39,861,671 (GRCm39) |
V132A |
probably benign |
Het |
| Pex10 |
A |
T |
4: 155,154,955 (GRCm39) |
S236C |
probably damaging |
Het |
| Phkb |
T |
G |
8: 86,669,020 (GRCm39) |
|
probably null |
Het |
| Pklr |
A |
G |
3: 89,049,215 (GRCm39) |
Y187C |
probably damaging |
Het |
| Plekhh1 |
A |
C |
12: 79,102,140 (GRCm39) |
E403D |
probably benign |
Het |
| Pls1 |
T |
C |
9: 95,677,821 (GRCm39) |
K22E |
possibly damaging |
Het |
| Prdm2 |
G |
A |
4: 142,861,524 (GRCm39) |
H589Y |
possibly damaging |
Het |
| Rabggtb |
C |
A |
3: 153,614,467 (GRCm39) |
R230L |
probably damaging |
Het |
| Rsph4a |
A |
G |
10: 33,785,349 (GRCm39) |
E420G |
probably benign |
Het |
| Sdk2 |
T |
C |
11: 113,717,912 (GRCm39) |
N1484S |
possibly damaging |
Het |
| St8sia3 |
T |
A |
18: 64,400,056 (GRCm39) |
V17E |
possibly damaging |
Het |
| Sult6b2 |
T |
A |
6: 142,743,675 (GRCm39) |
N117I |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,901,963 (GRCm39) |
T422A |
possibly damaging |
Het |
| Tmem266 |
A |
G |
9: 55,344,613 (GRCm39) |
D415G |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Ttyh2 |
G |
T |
11: 114,581,081 (GRCm39) |
G107C |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,168,125 (GRCm39) |
D2835G |
probably damaging |
Het |
| Zranb3 |
T |
C |
1: 127,904,199 (GRCm39) |
D540G |
probably benign |
Het |
|
| Other mutations in Eqtn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0904:Eqtn
|
UTSW |
4 |
94,795,892 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1605:Eqtn
|
UTSW |
4 |
94,816,587 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2290:Eqtn
|
UTSW |
4 |
94,815,179 (GRCm39) |
small deletion |
probably benign |
|
|
R4072:Eqtn
|
UTSW |
4 |
94,808,199 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4073:Eqtn
|
UTSW |
4 |
94,808,199 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4074:Eqtn
|
UTSW |
4 |
94,808,199 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4075:Eqtn
|
UTSW |
4 |
94,808,199 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5379:Eqtn
|
UTSW |
4 |
94,795,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5485:Eqtn
|
UTSW |
4 |
94,813,193 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5691:Eqtn
|
UTSW |
4 |
94,811,965 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6252:Eqtn
|
UTSW |
4 |
94,796,006 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6707:Eqtn
|
UTSW |
4 |
94,796,056 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6873:Eqtn
|
UTSW |
4 |
94,815,258 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7209:Eqtn
|
UTSW |
4 |
94,813,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7235:Eqtn
|
UTSW |
4 |
94,811,936 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7651:Eqtn
|
UTSW |
4 |
94,811,944 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7652:Eqtn
|
UTSW |
4 |
94,816,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9566:Eqtn
|
UTSW |
4 |
94,813,185 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0063:Eqtn
|
UTSW |
4 |
94,816,555 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Eqtn
|
UTSW |
4 |
94,795,788 (GRCm39) |
missense |
probably benign |
0.28 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATTCAAGCGGCACGTCTTACAC -3'
(R):5'- GGAGTTAAGCACAGCGATCCCAATG -3'
Sequencing Primer
(F):5'- GGCACGTCTTACACTTAACTGAAG -3'
(R):5'- GCGATCCCAATGGTTATAAAAACG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation