Incidental Mutation 'R2905:Pou6f1'
ID |
261634 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pou6f1
|
Ensembl Gene |
ENSMUSG00000009739 |
Gene Name |
POU domain, class 6, transcription factor 1 |
Synonyms |
cns-1, 2310038G18Rik, Emb |
MMRRC Submission |
040492-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.619)
|
Stock # |
R2905 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
100473199-100497865 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 100483839 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 220
(V220I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073504
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058274]
[ENSMUST00000073837]
[ENSMUST00000176271]
[ENSMUST00000176300]
[ENSMUST00000177202]
|
AlphaFold |
Q07916 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058274
|
SMART Domains |
Protein: ENSMUSP00000049955 Gene: ENSMUSG00000009739
Domain | Start | End | E-Value | Type |
low complexity region
|
113 |
132 |
N/A |
INTRINSIC |
low complexity region
|
181 |
193 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000073837
AA Change: V220I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000073504 Gene: ENSMUSG00000009739 AA Change: V220I
Domain | Start | End | E-Value | Type |
low complexity region
|
174 |
232 |
N/A |
INTRINSIC |
POU
|
414 |
488 |
6.32e-44 |
SMART |
HOX
|
509 |
571 |
7.03e-22 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176140
|
SMART Domains |
Protein: ENSMUSP00000135670 Gene: ENSMUSG00000009739
Domain | Start | End | E-Value | Type |
POU
|
139 |
213 |
6.32e-44 |
SMART |
HOX
|
234 |
296 |
7.03e-22 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176271
|
SMART Domains |
Protein: ENSMUSP00000134760 Gene: ENSMUSG00000009739
Domain | Start | End | E-Value | Type |
POU
|
139 |
213 |
6.32e-44 |
SMART |
HOX
|
234 |
296 |
7.03e-22 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176271
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176300
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176881
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205510
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177247
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230790
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177505
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177202
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
100% (32/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ajap1 |
C |
A |
4: 153,517,284 (GRCm39) |
R19L |
probably benign |
Het |
Alk |
A |
C |
17: 72,292,489 (GRCm39) |
S496R |
probably benign |
Het |
Arhgap15 |
T |
C |
2: 43,953,798 (GRCm39) |
F175L |
probably damaging |
Het |
Col12a1 |
G |
T |
9: 79,559,307 (GRCm39) |
S1860R |
probably damaging |
Het |
Cuedc2 |
C |
T |
19: 46,321,088 (GRCm39) |
V15I |
probably benign |
Het |
Dennd3 |
T |
A |
15: 73,429,495 (GRCm39) |
L4Q |
probably damaging |
Het |
Dusp8 |
T |
A |
7: 141,637,126 (GRCm39) |
K234* |
probably null |
Het |
Dzip1l |
A |
G |
9: 99,545,722 (GRCm39) |
E657G |
probably damaging |
Het |
F7 |
C |
T |
8: 13,084,775 (GRCm39) |
T267I |
probably benign |
Het |
Gm9791 |
T |
C |
3: 34,059,336 (GRCm39) |
|
noncoding transcript |
Het |
Hmcn1 |
A |
G |
1: 150,624,786 (GRCm39) |
S1040P |
probably damaging |
Het |
Ift56 |
T |
C |
6: 38,378,037 (GRCm39) |
V283A |
possibly damaging |
Het |
Jtb |
C |
G |
3: 90,139,799 (GRCm39) |
P62R |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Ly6m |
T |
A |
15: 74,751,716 (GRCm39) |
Y106F |
probably benign |
Het |
Ly75 |
A |
G |
2: 60,164,898 (GRCm39) |
V760A |
probably benign |
Het |
Nudt4 |
T |
G |
10: 95,399,571 (GRCm39) |
K17Q |
probably benign |
Het |
Or6c217 |
T |
C |
10: 129,738,269 (GRCm39) |
I103M |
possibly damaging |
Het |
Pde4a |
A |
T |
9: 21,112,645 (GRCm39) |
T274S |
probably benign |
Het |
Relch |
T |
C |
1: 105,619,719 (GRCm39) |
V316A |
probably benign |
Het |
Rif1 |
T |
C |
2: 51,988,516 (GRCm39) |
S752P |
probably damaging |
Het |
Ror2 |
A |
G |
13: 53,286,031 (GRCm39) |
I73T |
probably benign |
Het |
Samhd1 |
A |
T |
2: 156,965,335 (GRCm39) |
F160Y |
possibly damaging |
Het |
Tas2r118 |
A |
G |
6: 23,969,801 (GRCm39) |
F87L |
possibly damaging |
Het |
Thop1 |
T |
C |
10: 80,915,425 (GRCm39) |
L295P |
probably damaging |
Het |
Tlr12 |
A |
G |
4: 128,509,802 (GRCm39) |
M816T |
probably damaging |
Het |
Trip12 |
T |
C |
1: 84,732,064 (GRCm39) |
N970S |
probably benign |
Het |
Ttll8 |
A |
T |
15: 88,798,680 (GRCm39) |
M685K |
probably benign |
Het |
Ushbp1 |
G |
A |
8: 71,840,179 (GRCm39) |
R491* |
probably null |
Het |
|
Other mutations in Pou6f1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00480:Pou6f1
|
APN |
15 |
100,477,928 (GRCm39) |
splice site |
probably benign |
|
IGL02451:Pou6f1
|
APN |
15 |
100,477,821 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02545:Pou6f1
|
APN |
15 |
100,481,306 (GRCm39) |
nonsense |
probably null |
|
R0076:Pou6f1
|
UTSW |
15 |
100,485,717 (GRCm39) |
nonsense |
probably null |
|
R0076:Pou6f1
|
UTSW |
15 |
100,485,717 (GRCm39) |
nonsense |
probably null |
|
R0212:Pou6f1
|
UTSW |
15 |
100,478,696 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1297:Pou6f1
|
UTSW |
15 |
100,476,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R2863:Pou6f1
|
UTSW |
15 |
100,478,689 (GRCm39) |
splice site |
probably null |
|
R3418:Pou6f1
|
UTSW |
15 |
100,478,805 (GRCm39) |
missense |
probably benign |
0.00 |
R4161:Pou6f1
|
UTSW |
15 |
100,478,724 (GRCm39) |
missense |
probably damaging |
0.98 |
R4793:Pou6f1
|
UTSW |
15 |
100,476,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R5617:Pou6f1
|
UTSW |
15 |
100,483,874 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5947:Pou6f1
|
UTSW |
15 |
100,484,001 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6261:Pou6f1
|
UTSW |
15 |
100,477,827 (GRCm39) |
missense |
probably damaging |
0.99 |
R6731:Pou6f1
|
UTSW |
15 |
100,477,764 (GRCm39) |
missense |
possibly damaging |
0.57 |
R7696:Pou6f1
|
UTSW |
15 |
100,481,979 (GRCm39) |
missense |
probably benign |
0.30 |
R8795:Pou6f1
|
UTSW |
15 |
100,485,686 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8941:Pou6f1
|
UTSW |
15 |
100,489,742 (GRCm39) |
missense |
probably damaging |
0.99 |
R9114:Pou6f1
|
UTSW |
15 |
100,478,789 (GRCm39) |
missense |
probably benign |
0.28 |
R9731:Pou6f1
|
UTSW |
15 |
100,476,206 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9737:Pou6f1
|
UTSW |
15 |
100,481,282 (GRCm39) |
missense |
probably benign |
0.01 |
X0019:Pou6f1
|
UTSW |
15 |
100,481,203 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Pou6f1
|
UTSW |
15 |
100,481,122 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGTGTTCAAGGAGCTGGTC -3'
(R):5'- AGATCCCTTGGGACTGGAAC -3'
Sequencing Primer
(F):5'- AGCTGGTCCTCCACTGTG -3'
(R):5'- AACTGTGCCGCGTCATG -3'
|
Posted On |
2015-01-23 |