Incidental Mutation 'R2899:Pou4f3'
| ID |
261426 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pou4f3
|
| Ensembl Gene |
ENSMUSG00000024497 |
| Gene Name |
POU domain, class 4, transcription factor 3 |
| Synonyms |
Brn-3.1, Brn3.1, Brn3c |
| MMRRC Submission |
040487-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.879)
|
| Stock # |
R2899 (G1)
|
| Quality Score |
111 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
42527662-42529158 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42528588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 177
(L177P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025374
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025374]
|
| AlphaFold |
Q63955 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025374
AA Change: L177P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000025374
Gene: ENSMUSG00000024497
AA Change: L177P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
98 |
N/A |
INTRINSIC |
|
POU
|
179 |
256 |
4.97e-51 |
SMART |
|
HOX
|
274 |
336 |
5.76e-18 |
SMART |
|
| Meta Mutation Damage Score |
0.1257 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
97% (30/31) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the POU-domain family of transcription factors. POU-domain proteins have been observed to play important roles in control of cell identity in several systems. This protein is found in the retina and may play a role in determining or maintaining the identities of a small subset of visual system neurons. Defects in this gene are the cause of non-syndromic sensorineural deafness autosomal dominant type 15. [provided by RefSeq, Mar 2009]
PHENOTYPE: Affected mice are slightly smaller than their littermates and exhibit vertical head-tossing, circling and general hyperactive behavior typical of the shaker-waltzer class of mutants. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,771,443 (GRCm39) |
K211E |
probably benign |
Het |
| Amigo3 |
T |
C |
9: 107,931,353 (GRCm39) |
S259P |
probably benign |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Cd200r4 |
T |
C |
16: 44,653,728 (GRCm39) |
I175T |
probably damaging |
Het |
| Cep131 |
T |
C |
11: 119,962,854 (GRCm39) |
D425G |
probably benign |
Het |
| Clmp |
T |
C |
9: 40,693,688 (GRCm39) |
S302P |
probably damaging |
Het |
| Dusp6 |
T |
C |
10: 99,099,707 (GRCm39) |
S52P |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,381,667 (GRCm39) |
I395F |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,014,469 (GRCm39) |
E580G |
possibly damaging |
Het |
| Fbxo3 |
T |
A |
2: 103,881,480 (GRCm39) |
Y271N |
probably damaging |
Het |
| Fuca1 |
G |
A |
4: 135,650,323 (GRCm39) |
W131* |
probably null |
Het |
| Gdf7 |
C |
T |
12: 8,348,470 (GRCm39) |
A276T |
unknown |
Het |
| Limk1 |
A |
T |
5: 134,717,154 (GRCm39) |
|
probably null |
Het |
| Lrrc37a |
G |
A |
11: 103,388,690 (GRCm39) |
T2245I |
unknown |
Het |
| Neb |
A |
G |
2: 52,075,335 (GRCm39) |
I210T |
probably benign |
Het |
| Nf1 |
T |
G |
11: 79,303,584 (GRCm39) |
N420K |
possibly damaging |
Het |
| Or5b101 |
T |
A |
19: 13,005,058 (GRCm39) |
I212F |
probably damaging |
Het |
| Pask |
G |
T |
1: 93,262,269 (GRCm39) |
T197K |
probably damaging |
Het |
| Potefam1 |
C |
A |
2: 111,051,015 (GRCm39) |
|
probably benign |
Het |
| Rassf1 |
G |
A |
9: 107,431,393 (GRCm39) |
G107R |
probably null |
Het |
| Rdx |
T |
C |
9: 51,980,211 (GRCm39) |
|
probably benign |
Het |
| Saraf |
T |
C |
8: 34,628,385 (GRCm39) |
L77P |
probably damaging |
Het |
| Syngap1 |
A |
G |
17: 27,178,959 (GRCm39) |
E483G |
probably damaging |
Het |
| Tsku |
T |
C |
7: 98,002,124 (GRCm39) |
N69S |
probably damaging |
Het |
| Usp36 |
G |
A |
11: 118,167,582 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Zc3h6 |
T |
C |
2: 128,844,152 (GRCm39) |
V232A |
probably benign |
Het |
| Zfp143 |
T |
A |
7: 109,671,336 (GRCm39) |
S99R |
probably damaging |
Het |
| Zkscan3 |
A |
T |
13: 21,578,143 (GRCm39) |
L219Q |
probably damaging |
Het |
|
| Other mutations in Pou4f3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01135:Pou4f3
|
APN |
18 |
42,529,031 (GRCm39) |
nonsense |
probably null |
|
|
PIT4472001:Pou4f3
|
UTSW |
18 |
42,527,717 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4107:Pou4f3
|
UTSW |
18 |
42,528,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4108:Pou4f3
|
UTSW |
18 |
42,528,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:Pou4f3
|
UTSW |
18 |
42,529,052 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5084:Pou4f3
|
UTSW |
18 |
42,528,933 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5366:Pou4f3
|
UTSW |
18 |
42,528,819 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5560:Pou4f3
|
UTSW |
18 |
42,528,480 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6624:Pou4f3
|
UTSW |
18 |
42,528,707 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7492:Pou4f3
|
UTSW |
18 |
42,528,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7816:Pou4f3
|
UTSW |
18 |
42,528,251 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8460:Pou4f3
|
UTSW |
18 |
42,529,053 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8469:Pou4f3
|
UTSW |
18 |
42,528,339 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8715:Pou4f3
|
UTSW |
18 |
42,528,593 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8716:Pou4f3
|
UTSW |
18 |
42,528,593 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9350:Pou4f3
|
UTSW |
18 |
42,528,329 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9423:Pou4f3
|
UTSW |
18 |
42,528,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9577:Pou4f3
|
UTSW |
18 |
42,528,563 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Pou4f3
|
UTSW |
18 |
42,528,974 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACCATACCATGAGCAGCGTG -3'
(R):5'- AGACTCGAACCTGCAGATGG -3'
Sequencing Primer
(F):5'- AGGGCGACTTACTTGAGCACATC -3'
(R):5'- CAGATGGTGCTCTGGCTGAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation