Incidental Mutation 'R1297:Pou6f1'
| ID |
158193 |
| 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 |
039363-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.466)
|
| Stock # |
R1297 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
100473199-100497865 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 100476186 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 292
(T292S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145707
(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 |
possibly damaging
Transcript: ENSMUST00000073837
AA Change: T567S
PolyPhen 2
Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000073504
Gene: ENSMUSG00000009739
AA Change: T567S
| 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 damaging
Transcript: ENSMUST00000176271
AA Change: T292S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000134760
Gene: ENSMUSG00000009739
AA Change: T292S
| Domain | Start | End | E-Value | Type |
|---|
|
POU
|
139 |
213 |
6.32e-44 |
SMART |
|
HOX
|
234 |
296 |
7.03e-22 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176271
AA Change: T292S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176300
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177202
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177335
|
| SMART Domains |
Protein: ENSMUSP00000135627
Gene: ENSMUSG00000009739
| Domain | Start | End | E-Value | Type |
|---|
|
POU
|
28 |
102 |
6.32e-44 |
SMART |
|
HOX
|
123 |
185 |
7.03e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230790
|
| Meta Mutation Damage Score |
0.2623 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.8%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp1 |
A |
G |
11: 5,820,834 (GRCm39) |
N542D |
possibly damaging |
Het |
| Ap2b1 |
T |
A |
11: 83,223,935 (GRCm39) |
W217R |
probably damaging |
Het |
| Cep290 |
T |
A |
10: 100,374,962 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
G |
A |
4: 63,183,868 (GRCm39) |
|
probably benign |
Het |
| Cyp2d12 |
A |
T |
15: 82,441,887 (GRCm39) |
H109L |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 118,012,192 (GRCm39) |
|
probably benign |
Het |
| Golga3 |
G |
A |
5: 110,352,709 (GRCm39) |
A867T |
probably benign |
Het |
| Gstt4 |
T |
A |
10: 75,653,133 (GRCm39) |
N143I |
possibly damaging |
Het |
| Hdac2 |
G |
A |
10: 36,862,370 (GRCm39) |
R78Q |
possibly damaging |
Het |
| Itsn2 |
T |
C |
12: 4,750,378 (GRCm39) |
I1241T |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 33,836,868 (GRCm39) |
K2249R |
probably damaging |
Het |
| Klrg1 |
T |
A |
6: 122,250,538 (GRCm39) |
I138F |
probably benign |
Het |
| Mast1 |
A |
G |
8: 85,639,345 (GRCm39) |
V1328A |
probably benign |
Het |
| Mettl25 |
T |
C |
10: 105,659,126 (GRCm39) |
S386G |
probably benign |
Het |
| Nme2 |
A |
T |
11: 93,842,782 (GRCm39) |
N210K |
possibly damaging |
Het |
| Pgap1 |
T |
C |
1: 54,567,682 (GRCm39) |
S388G |
possibly damaging |
Het |
| Pgk2 |
C |
A |
17: 40,519,255 (GRCm39) |
V58L |
probably benign |
Het |
| Phf11 |
A |
T |
14: 59,495,996 (GRCm39) |
H39Q |
probably benign |
Het |
| Rbm5 |
G |
A |
9: 107,621,441 (GRCm39) |
R15C |
probably damaging |
Het |
| Rnf215 |
T |
C |
11: 4,089,806 (GRCm39) |
V273A |
possibly damaging |
Het |
| Rras |
A |
G |
7: 44,670,003 (GRCm39) |
D145G |
probably damaging |
Het |
| Safb2 |
T |
C |
17: 56,891,265 (GRCm39) |
|
probably benign |
Het |
| Setdb1 |
A |
T |
3: 95,257,187 (GRCm39) |
|
probably benign |
Het |
| Sp5 |
A |
G |
2: 70,306,873 (GRCm39) |
D186G |
probably benign |
Het |
| Thada |
A |
G |
17: 84,559,863 (GRCm39) |
|
probably benign |
Het |
| Tle1 |
A |
G |
4: 72,043,075 (GRCm39) |
V598A |
probably damaging |
Het |
| Tnrc6c |
A |
G |
11: 117,624,529 (GRCm39) |
N947S |
possibly damaging |
Het |
| Tnxb |
T |
C |
17: 34,929,140 (GRCm39) |
S2728P |
probably damaging |
Het |
| Vmn1r13 |
A |
G |
6: 57,187,392 (GRCm39) |
R184G |
probably damaging |
Het |
| Wdr24 |
C |
T |
17: 26,046,322 (GRCm39) |
T522I |
possibly damaging |
Het |
| Zfyve16 |
A |
G |
13: 92,658,840 (GRCm39) |
V357A |
probably benign |
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 |
|
R2863:Pou6f1
|
UTSW |
15 |
100,478,689 (GRCm39) |
splice site |
probably null |
|
|
R2905:Pou6f1
|
UTSW |
15 |
100,483,839 (GRCm39) |
missense |
probably benign |
|
|
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'- AAAAGTTGCTACAGCCCTGCCC -3'
(R):5'- CAGCAGAACCTGATGGAGTTCGTG -3'
Sequencing Primer
(F):5'- AAAGACAGAGCCTTTCTGGTTCC -3'
(R):5'- CTCCAAGAAACGCAAGCGG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation