Incidental Mutation 'R4107:Pou4f3'
| ID |
321442 |
| 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 |
040986-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.882)
|
| Stock # |
R4107 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
42527662-42529158 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42528987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 310
(K310R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025374
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025374]
|
| AlphaFold |
Q63955 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025374
AA Change: K310R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000025374
Gene: ENSMUSG00000024497
AA Change: K310R
| 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 |
0.1355 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
G |
T |
5: 121,769,527 (GRCm39) |
S643Y |
probably damaging |
Het |
| Acox3 |
T |
C |
5: 35,758,896 (GRCm39) |
F369S |
probably damaging |
Het |
| Arhgap31 |
A |
G |
16: 38,422,788 (GRCm39) |
S1093P |
probably damaging |
Het |
| Armc3 |
G |
A |
2: 19,293,720 (GRCm39) |
V504M |
probably benign |
Het |
| Ccdc39 |
A |
G |
3: 33,879,628 (GRCm39) |
L480P |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cox5b-ps |
T |
C |
13: 21,685,507 (GRCm39) |
T28A |
probably benign |
Het |
| Cyp2j7 |
T |
C |
4: 96,087,687 (GRCm39) |
T408A |
possibly damaging |
Het |
| Eml5 |
T |
C |
12: 98,807,807 (GRCm39) |
|
probably null |
Het |
| Enc1 |
C |
A |
13: 97,381,646 (GRCm39) |
A52E |
probably damaging |
Het |
| Fhod1 |
T |
C |
8: 106,064,670 (GRCm39) |
|
probably benign |
Het |
| Itprid2 |
T |
G |
2: 79,475,175 (GRCm39) |
L378R |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,503,918 (GRCm39) |
S3797P |
possibly damaging |
Het |
| Kntc1 |
T |
A |
5: 123,900,661 (GRCm39) |
I253N |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mta3 |
A |
G |
17: 84,070,343 (GRCm39) |
D16G |
probably benign |
Het |
| Nlrp4f |
C |
A |
13: 65,330,879 (GRCm39) |
C838F |
probably benign |
Het |
| Or5aq7 |
T |
A |
2: 86,937,999 (GRCm39) |
H244L |
probably damaging |
Het |
| Reln |
C |
A |
5: 22,239,582 (GRCm39) |
C895F |
probably damaging |
Het |
| Rnasel |
A |
G |
1: 153,630,542 (GRCm39) |
T353A |
probably benign |
Het |
| Rpusd4 |
T |
C |
9: 35,186,424 (GRCm39) |
L320P |
probably damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Stbd1 |
A |
G |
5: 92,753,139 (GRCm39) |
R210G |
probably benign |
Het |
| Sult6b1 |
G |
T |
17: 79,214,291 (GRCm39) |
T6N |
probably damaging |
Het |
| Tas1r2 |
G |
A |
4: 139,387,363 (GRCm39) |
R245H |
probably benign |
Het |
| Tpo |
G |
A |
12: 30,142,585 (GRCm39) |
P713L |
probably damaging |
Het |
| Trim68 |
G |
T |
7: 102,327,658 (GRCm39) |
H432N |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,569,485 (GRCm39) |
Q18809R |
probably damaging |
Het |
| Xcr1 |
A |
G |
9: 123,685,153 (GRCm39) |
I203T |
possibly damaging |
Het |
| Zfp407 |
T |
A |
18: 84,361,132 (GRCm39) |
T1721S |
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 |
|
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'- TACTCTGTCGCACAACAACATG -3'
(R):5'- AGGAAACACCCTGGAGTGTC -3'
Sequencing Primer
(F):5'- ATGATCGCTCTCAAGCCG -3'
(R):5'- TGGAGTGTCCCGTAACGTC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation