Incidental Mutation 'R0076:Pou6f1'
| ID |
212564 |
| 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 |
038363-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.619)
|
| Stock # |
R0076 (G1)
|
| Quality Score |
21 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
100473199-100497865 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 100485717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 106
(Q106*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135415
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058274]
[ENSMUST00000073837]
[ENSMUST00000176271]
[ENSMUST00000176300]
[ENSMUST00000177202]
|
| AlphaFold |
Q07916 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000058274
AA Change: Q106*
|
| SMART Domains |
Protein: ENSMUSP00000049955
Gene: ENSMUSG00000009739
AA Change: Q106*
| 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: S104L
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000073504
Gene: ENSMUSG00000009739
AA Change: S104L
| 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 null
Transcript: ENSMUST00000176300
AA Change: Q106*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176881
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000177202
AA Change: Q106*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205510
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177247
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230790
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177505
|
| Meta Mutation Damage Score |
0.9587 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.0%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp3 |
A |
G |
9: 104,201,417 (GRCm39) |
|
probably benign |
Het |
| Ankrd17 |
T |
A |
5: 90,392,265 (GRCm39) |
K1693* |
probably null |
Het |
| Car10 |
G |
A |
11: 93,381,423 (GRCm39) |
E129K |
possibly damaging |
Het |
| Ccnd1 |
A |
C |
7: 144,493,402 (GRCm39) |
V10G |
probably benign |
Het |
| Cd19 |
T |
C |
7: 126,010,034 (GRCm39) |
D406G |
probably damaging |
Het |
| Cfap91 |
G |
A |
16: 38,123,046 (GRCm39) |
Q661* |
probably null |
Het |
| Col4a1 |
G |
A |
8: 11,268,713 (GRCm39) |
P1009L |
probably damaging |
Het |
| Col9a1 |
G |
A |
1: 24,276,578 (GRCm39) |
|
probably null |
Het |
| Crlf3 |
A |
T |
11: 79,947,427 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
A |
C |
9: 106,788,685 (GRCm39) |
|
probably benign |
Het |
| Dus1l |
A |
T |
11: 120,683,634 (GRCm39) |
|
probably benign |
Het |
| Dvl2 |
G |
A |
11: 69,898,926 (GRCm39) |
E438K |
probably damaging |
Het |
| Eif3g |
A |
G |
9: 20,809,049 (GRCm39) |
F85S |
probably damaging |
Het |
| Fam234b |
A |
G |
6: 135,204,224 (GRCm39) |
M456V |
probably benign |
Het |
| Fbxo47 |
G |
A |
11: 97,748,481 (GRCm39) |
|
probably benign |
Het |
| Galntl5 |
A |
G |
5: 25,391,070 (GRCm39) |
|
probably null |
Het |
| Gm11437 |
T |
C |
11: 84,039,462 (GRCm39) |
T288A |
possibly damaging |
Het |
| Gm5546 |
T |
A |
3: 104,260,448 (GRCm39) |
|
noncoding transcript |
Het |
| Gmfb |
C |
A |
14: 47,054,912 (GRCm39) |
A11S |
probably benign |
Het |
| Hnrnpa3 |
G |
T |
2: 75,492,040 (GRCm39) |
R52L |
probably damaging |
Het |
| Ing3 |
T |
C |
6: 21,952,170 (GRCm39) |
M48T |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,741,356 (GRCm39) |
|
probably benign |
Het |
| Megf8 |
G |
A |
7: 25,053,383 (GRCm39) |
|
probably null |
Het |
| Pex3 |
A |
G |
10: 13,411,338 (GRCm39) |
V180A |
probably benign |
Het |
| Ror2 |
T |
C |
13: 53,267,110 (GRCm39) |
M442V |
probably benign |
Het |
| Rspo1 |
G |
A |
4: 124,885,190 (GRCm39) |
R22Q |
probably benign |
Het |
| Sec1 |
A |
G |
7: 45,328,315 (GRCm39) |
V244A |
probably damaging |
Het |
| Serac1 |
A |
G |
17: 6,115,212 (GRCm39) |
|
probably benign |
Het |
| Sgcz |
A |
G |
8: 38,012,596 (GRCm39) |
|
probably benign |
Het |
| Slc16a7 |
A |
T |
10: 125,063,939 (GRCm39) |
V466D |
probably benign |
Het |
| Tbl1xr1 |
T |
A |
3: 22,243,949 (GRCm39) |
D74E |
probably benign |
Het |
| Ube3b |
G |
T |
5: 114,546,278 (GRCm39) |
|
probably null |
Het |
| Ugt2b37 |
A |
G |
5: 87,402,080 (GRCm39) |
S184P |
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 |
|
|
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 |
|
|
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'- AGGAAACTGTCCAGCAATGCTCAC -3'
(R):5'- TAGCAACACTTGGGAAGCTGCCAC -3'
Sequencing Primer
(F):5'- GGTAACCTAGAGATACCTAGTAGGAC -3'
(R):5'- TGGCCACCCTTCATTCACAA -3'
|
| Posted On |
2014-07-09 |
Incidental Mutation