Incidental Mutation 'R5998:Speer4a2'
| ID |
480669 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Speer4a2
|
| Ensembl Gene |
ENSMUSG00000073116 |
| Gene Name |
spermatogenesis associated glutamate (E)-rich protein 4A2 |
| Synonyms |
Gm10471 |
| MMRRC Submission |
044177-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R5998 (G1)
|
| Quality Score |
208.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
26287572-26294289 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26289704 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 241
(D241G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094946]
|
| AlphaFold |
E9Q1C7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094946
AA Change: D241G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000092553
Gene: ENSMUSG00000073116
AA Change: D241G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
6 |
90 |
1.9e-27 |
PFAM |
|
low complexity region
|
110 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
215 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
A |
11: 9,517,708 (GRCm39) |
V4437I |
probably damaging |
Het |
| Acot12 |
T |
C |
13: 91,905,653 (GRCm39) |
I71T |
possibly damaging |
Het |
| Adcy10 |
A |
G |
1: 165,369,218 (GRCm39) |
I630V |
probably benign |
Het |
| Adcy3 |
T |
A |
12: 4,248,348 (GRCm39) |
V470E |
probably damaging |
Het |
| Adcy6 |
C |
A |
15: 98,492,235 (GRCm39) |
E1008* |
probably null |
Het |
| Adgrb3 |
A |
T |
1: 25,470,582 (GRCm39) |
|
probably null |
Het |
| Ahrr |
T |
A |
13: 74,361,955 (GRCm39) |
S515C |
probably damaging |
Het |
| Ankrd52 |
T |
C |
10: 128,218,992 (GRCm39) |
I416T |
probably damaging |
Het |
| Arhgap45 |
T |
C |
10: 79,866,784 (GRCm39) |
S1096P |
probably damaging |
Het |
| Atp8b4 |
A |
G |
2: 126,275,787 (GRCm39) |
|
probably null |
Het |
| Bcl6b |
A |
C |
11: 70,119,009 (GRCm39) |
I200M |
probably damaging |
Het |
| Btbd19 |
T |
A |
4: 116,978,196 (GRCm39) |
E234V |
probably benign |
Het |
| Csmd1 |
G |
A |
8: 15,960,443 (GRCm39) |
T3324I |
probably damaging |
Het |
| Cyp2a5 |
G |
A |
7: 26,536,578 (GRCm39) |
V186I |
probably benign |
Het |
| Eif4a3l1 |
T |
C |
6: 136,305,622 (GRCm39) |
F28L |
probably benign |
Het |
| Glb1l2 |
G |
A |
9: 26,677,299 (GRCm39) |
T533I |
possibly damaging |
Het |
| Helz |
G |
T |
11: 107,576,360 (GRCm39) |
E1851* |
probably null |
Het |
| Igkv15-103 |
T |
A |
6: 68,414,489 (GRCm39) |
F13Y |
unknown |
Het |
| Kcnq2 |
T |
C |
2: 180,728,801 (GRCm39) |
H548R |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,316,976 (GRCm39) |
|
probably null |
Het |
| Micall2 |
T |
C |
5: 139,692,666 (GRCm39) |
|
probably null |
Het |
| Mill2 |
A |
G |
7: 18,573,989 (GRCm39) |
R25G |
probably benign |
Het |
| Mtcl1 |
G |
A |
17: 66,675,275 (GRCm39) |
H1041Y |
probably damaging |
Het |
| Or5k16 |
T |
C |
16: 58,736,993 (GRCm39) |
T4A |
probably benign |
Het |
| Or8d2b |
G |
A |
9: 38,789,165 (GRCm39) |
R231H |
probably damaging |
Het |
| Pigt |
A |
G |
2: 164,349,374 (GRCm39) |
E559G |
possibly damaging |
Het |
| Pkdrej |
A |
G |
15: 85,699,654 (GRCm39) |
V2094A |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,601,021 (GRCm39) |
L2894Q |
probably damaging |
Het |
| Saxo4 |
A |
T |
19: 10,458,716 (GRCm39) |
W105R |
possibly damaging |
Het |
| Tmem63b |
A |
G |
17: 45,980,926 (GRCm39) |
V256A |
possibly damaging |
Het |
| Zfp516 |
T |
C |
18: 82,974,639 (GRCm39) |
L279P |
probably damaging |
Het |
| Zfp780b |
T |
A |
7: 27,664,047 (GRCm39) |
K169N |
probably benign |
Het |
|
| Other mutations in Speer4a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00333:Speer4a2
|
APN |
5 |
26,291,491 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01629:Speer4a2
|
APN |
5 |
26,290,700 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02804:Speer4a2
|
APN |
5 |
26,291,429 (GRCm39) |
nonsense |
probably null |
|
|
PIT4131001:Speer4a2
|
UTSW |
5 |
26,294,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4131001:Speer4a2
|
UTSW |
5 |
26,291,485 (GRCm39) |
missense |
probably benign |
|
|
PIT4142001:Speer4a2
|
UTSW |
5 |
26,294,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4142001:Speer4a2
|
UTSW |
5 |
26,291,485 (GRCm39) |
missense |
probably benign |
|
|
R1033:Speer4a2
|
UTSW |
5 |
26,294,125 (GRCm39) |
missense |
probably benign |
|
|
R4922:Speer4a2
|
UTSW |
5 |
26,289,791 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5876:Speer4a2
|
UTSW |
5 |
26,289,716 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6022:Speer4a2
|
UTSW |
5 |
26,289,677 (GRCm39) |
missense |
probably benign |
|
|
R6189:Speer4a2
|
UTSW |
5 |
26,290,691 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6928:Speer4a2
|
UTSW |
5 |
26,290,586 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6978:Speer4a2
|
UTSW |
5 |
26,291,454 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7143:Speer4a2
|
UTSW |
5 |
26,290,674 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7271:Speer4a2
|
UTSW |
5 |
26,292,993 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7590:Speer4a2
|
UTSW |
5 |
26,290,764 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7989:Speer4a2
|
UTSW |
5 |
26,290,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8161:Speer4a2
|
UTSW |
5 |
26,289,690 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8962:Speer4a2
|
UTSW |
5 |
26,290,745 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9585:Speer4a2
|
UTSW |
5 |
26,291,542 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTAGCAGCACAGCCCTCC -3'
(R):5'- GCCTGTCTGCAGTTTTCAAATCTG -3'
Sequencing Primer
(F):5'- AGCCCTCCAGCCTGCTG -3'
(R):5'- AGACTGCAGCCTGAGAGCTG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation