Incidental Mutation 'IGL02092:Speer4f2'
| ID |
279453 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Speer4f2
|
| Ensembl Gene |
ENSMUSG00000091827 |
| Gene Name |
spermatogenesis associated glutamate (E)-rich protein 4f2 |
| Synonyms |
Gm3535, Gm3495 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
IGL02092
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
17578184-17582990 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 17581627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 190
(Q190*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129818
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166086]
|
| AlphaFold |
E9Q366 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165985
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000166086
AA Change: Q190*
|
| SMART Domains |
Protein: ENSMUSP00000129818
Gene: ENSMUSG00000091827
AA Change: Q190*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
34 |
112 |
9.6e-20 |
PFAM |
|
low complexity region
|
208 |
253 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010H22Rik |
T |
A |
5: 98,714,627 (GRCm39) |
|
probably benign |
Het |
| Birc7 |
A |
T |
2: 180,574,979 (GRCm39) |
R238S |
probably benign |
Het |
| Cdc42bpg |
C |
A |
19: 6,366,856 (GRCm39) |
|
probably benign |
Het |
| Ces3a |
T |
C |
8: 105,776,962 (GRCm39) |
|
probably benign |
Het |
| Cntnap2 |
T |
C |
6: 46,211,137 (GRCm39) |
F517S |
probably damaging |
Het |
| Cracr2b |
A |
G |
7: 141,044,869 (GRCm39) |
E201G |
probably damaging |
Het |
| Cyth3 |
T |
C |
5: 143,693,140 (GRCm39) |
|
probably benign |
Het |
| Exoc2 |
A |
T |
13: 31,059,260 (GRCm39) |
N611K |
probably benign |
Het |
| Fign |
A |
T |
2: 63,810,927 (GRCm39) |
N114K |
possibly damaging |
Het |
| Gabrb3 |
A |
G |
7: 57,415,334 (GRCm39) |
T135A |
probably damaging |
Het |
| Htra3 |
T |
C |
5: 35,828,416 (GRCm39) |
K155E |
probably damaging |
Het |
| Inpp5f |
T |
C |
7: 128,286,948 (GRCm39) |
L609S |
probably damaging |
Het |
| Kcp |
C |
A |
6: 29,489,031 (GRCm39) |
|
probably null |
Het |
| Map4k4 |
A |
G |
1: 40,025,943 (GRCm39) |
K311R |
probably benign |
Het |
| Map4k4 |
A |
G |
1: 40,063,508 (GRCm39) |
K1228E |
probably damaging |
Het |
| Muc20 |
G |
A |
16: 32,614,642 (GRCm39) |
S245F |
probably damaging |
Het |
| Or10ak8 |
A |
G |
4: 118,774,187 (GRCm39) |
L159S |
possibly damaging |
Het |
| Or7g33 |
T |
A |
9: 19,449,046 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or8b36 |
T |
G |
9: 37,937,917 (GRCm39) |
S272A |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,136,360 (GRCm39) |
M892T |
probably benign |
Het |
| Ptpn22 |
A |
G |
3: 103,784,637 (GRCm39) |
T234A |
probably damaging |
Het |
| Sema4g |
G |
A |
19: 44,981,078 (GRCm39) |
|
probably null |
Het |
| Slc35a3 |
A |
G |
3: 116,474,781 (GRCm39) |
S204P |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,220,529 (GRCm39) |
|
probably benign |
Het |
| Tacr1 |
T |
C |
6: 82,380,900 (GRCm39) |
Y104H |
probably damaging |
Het |
| Trim23 |
A |
G |
13: 104,324,120 (GRCm39) |
E173G |
probably benign |
Het |
| Trpm6 |
T |
C |
19: 18,749,695 (GRCm39) |
I8T |
possibly damaging |
Het |
| Trpv1 |
T |
A |
11: 73,136,905 (GRCm39) |
|
probably benign |
Het |
| Ufsp2 |
T |
C |
8: 46,448,701 (GRCm39) |
|
probably null |
Het |
| Wwc2 |
T |
C |
8: 48,317,570 (GRCm39) |
D669G |
unknown |
Het |
| Zfp940 |
T |
C |
7: 29,545,626 (GRCm39) |
T94A |
probably benign |
Het |
| Zfp947 |
T |
G |
17: 22,366,477 (GRCm39) |
D17A |
probably damaging |
Het |
|
| Other mutations in Speer4f2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01505:Speer4f2
|
APN |
5 |
17,581,565 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03100:Speer4f2
|
APN |
5 |
17,581,528 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0939:Speer4f2
|
UTSW |
5 |
17,579,402 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1384:Speer4f2
|
UTSW |
5 |
17,579,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1528:Speer4f2
|
UTSW |
5 |
17,581,540 (GRCm39) |
missense |
|
|
|
R1873:Speer4f2
|
UTSW |
5 |
17,579,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3608:Speer4f2
|
UTSW |
5 |
17,579,492 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4972:Speer4f2
|
UTSW |
5 |
17,579,423 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5421:Speer4f2
|
UTSW |
5 |
17,579,356 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5450:Speer4f2
|
UTSW |
5 |
17,578,217 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5452:Speer4f2
|
UTSW |
5 |
17,581,498 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5531:Speer4f2
|
UTSW |
5 |
17,581,526 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5924:Speer4f2
|
UTSW |
5 |
17,581,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6454:Speer4f2
|
UTSW |
5 |
17,579,431 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6553:Speer4f2
|
UTSW |
5 |
17,579,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6585:Speer4f2
|
UTSW |
5 |
17,579,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6649:Speer4f2
|
UTSW |
5 |
17,580,767 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6878:Speer4f2
|
UTSW |
5 |
17,580,765 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7089:Speer4f2
|
UTSW |
5 |
17,581,661 (GRCm39) |
missense |
|
|
|
R7129:Speer4f2
|
UTSW |
5 |
17,582,446 (GRCm39) |
missense |
|
|
|
R7448:Speer4f2
|
UTSW |
5 |
17,581,540 (GRCm39) |
missense |
|
|
|
R7654:Speer4f2
|
UTSW |
5 |
17,579,413 (GRCm39) |
missense |
|
|
|
R7942:Speer4f2
|
UTSW |
5 |
17,582,630 (GRCm39) |
missense |
unknown |
|
|
R8170:Speer4f2
|
UTSW |
5 |
17,579,459 (GRCm39) |
missense |
|
|
|
R8409:Speer4f2
|
UTSW |
5 |
17,582,419 (GRCm39) |
missense |
|
|
|
R9154:Speer4f2
|
UTSW |
5 |
17,581,610 (GRCm39) |
missense |
|
|
|
| Posted On |
2015-04-16 |
Incidental Mutation