Incidental Mutation 'R6624:Pou4f3'
| ID |
524697 |
| 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 |
044746-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.882)
|
| Stock # |
R6624 (G1)
|
| Quality Score |
119.008 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
42527662-42529158 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 42528707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 217
(I217F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025374
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025374]
|
| AlphaFold |
Q63955 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025374
AA Change: I217F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000025374
Gene: ENSMUSG00000024497
AA Change: I217F
| 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 |
0.2187 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
| Validation Efficiency |
100% (32/32) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
G |
A |
10: 69,740,298 (GRCm39) |
E852K |
possibly damaging |
Het |
| Cib3 |
T |
A |
8: 72,959,582 (GRCm39) |
I96F |
probably damaging |
Het |
| Ckap5 |
C |
T |
2: 91,407,996 (GRCm39) |
P841S |
probably benign |
Het |
| Col25a1 |
A |
G |
3: 130,360,100 (GRCm39) |
|
probably null |
Het |
| Col27a1 |
A |
T |
4: 63,143,248 (GRCm39) |
H312L |
probably benign |
Het |
| Cyp2j7 |
A |
G |
4: 96,115,855 (GRCm39) |
I197T |
probably damaging |
Het |
| Cyp4f40 |
C |
T |
17: 32,890,154 (GRCm39) |
R275C |
possibly damaging |
Het |
| Eif3l |
T |
C |
15: 78,974,129 (GRCm39) |
S515P |
probably damaging |
Het |
| Enpp1 |
A |
T |
10: 24,545,653 (GRCm39) |
Y262* |
probably null |
Het |
| Ergic3 |
T |
A |
2: 155,858,818 (GRCm39) |
M286K |
probably damaging |
Het |
| Ern2 |
C |
T |
7: 121,777,006 (GRCm39) |
A305T |
probably benign |
Het |
| Fam187b |
A |
G |
7: 30,676,612 (GRCm39) |
I40M |
probably benign |
Het |
| Fcho1 |
T |
G |
8: 72,162,015 (GRCm39) |
K798T |
probably damaging |
Het |
| Iah1 |
C |
T |
12: 21,369,785 (GRCm39) |
Q100* |
probably null |
Het |
| Jak2 |
T |
C |
19: 29,259,989 (GRCm39) |
I296T |
probably damaging |
Het |
| Lats2 |
A |
G |
14: 57,931,769 (GRCm39) |
|
probably null |
Het |
| Lrriq4 |
A |
T |
3: 30,704,929 (GRCm39) |
H319L |
probably benign |
Het |
| Man2b1 |
A |
G |
8: 85,823,482 (GRCm39) |
N939D |
probably benign |
Het |
| Meis1 |
T |
C |
11: 18,966,215 (GRCm39) |
T53A |
probably benign |
Het |
| Nadsyn1 |
C |
T |
7: 143,359,710 (GRCm39) |
E421K |
probably benign |
Het |
| Or10a3m |
T |
C |
7: 108,312,743 (GRCm39) |
I49T |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pmfbp1 |
T |
C |
8: 110,256,822 (GRCm39) |
S509P |
possibly damaging |
Het |
| Ppara |
C |
A |
15: 85,675,237 (GRCm39) |
N235K |
probably benign |
Het |
| Prrg2 |
T |
C |
7: 44,709,410 (GRCm39) |
Y73C |
probably damaging |
Het |
| Sdccag8 |
T |
A |
1: 176,702,378 (GRCm39) |
|
probably null |
Het |
| Thap12 |
T |
G |
7: 98,364,793 (GRCm39) |
Y320* |
probably null |
Het |
| Trpm6 |
A |
G |
19: 18,773,803 (GRCm39) |
|
probably null |
Het |
| Trpm6 |
T |
A |
19: 18,866,384 (GRCm39) |
C1978S |
probably damaging |
Het |
| Usp33 |
A |
G |
3: 152,087,435 (GRCm39) |
Y708C |
probably damaging |
Het |
| Wdr3 |
G |
A |
3: 100,051,642 (GRCm39) |
T669M |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,343,073 (GRCm39) |
I484T |
possibly 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 |
|
R2899:Pou4f3
|
UTSW |
18 |
42,528,588 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- AGATCCACCCGCATCATCTAGG -3'
(R):5'- AATAGGCTTCGAGTGAGCG -3'
Sequencing Primer
(F):5'- ACTTGCATCAGGCCATGG -3'
(R):5'- GCTTCGAGTGAGCGCTTCTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation