Incidental Mutation 'R6731:Pou6f1'
| ID |
530081 |
| 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 |
044849-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.619)
|
| Stock # |
R6731 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
100473199-100497865 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100477764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 460
(I460V)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000073837
AA Change: I460V
PolyPhen 2
Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000073504
Gene: ENSMUSG00000009739
AA Change: I460V
| 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
AA Change: I185V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000134760
Gene: ENSMUSG00000009739
AA Change: I185V
| 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
AA Change: I185V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.3%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta1 |
G |
A |
8: 124,619,956 (GRCm39) |
T128I |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,988,926 (GRCm39) |
D3403E |
possibly damaging |
Het |
| Aldoc |
T |
A |
11: 78,216,918 (GRCm39) |
D319E |
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,849,858 (GRCm39) |
D1108E |
possibly damaging |
Het |
| Ankrd7 |
G |
A |
6: 18,866,653 (GRCm39) |
G58S |
probably damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,796 (GRCm39) |
Y359F |
probably damaging |
Het |
| B3gnt2 |
G |
T |
11: 22,786,888 (GRCm39) |
S100* |
probably null |
Het |
| Cd46 |
T |
C |
1: 194,765,775 (GRCm39) |
|
probably null |
Het |
| Chst5 |
G |
T |
8: 112,616,676 (GRCm39) |
R315S |
probably benign |
Het |
| Cps1 |
T |
C |
1: 67,200,030 (GRCm39) |
S393P |
probably damaging |
Het |
| Dis3l |
T |
C |
9: 64,217,720 (GRCm39) |
|
probably null |
Het |
| Fgg |
T |
C |
3: 82,920,208 (GRCm39) |
F329S |
probably damaging |
Het |
| Hsp90b1 |
T |
C |
10: 86,537,769 (GRCm39) |
T179A |
probably benign |
Het |
| Kat2a |
A |
T |
11: 100,599,099 (GRCm39) |
M559K |
probably damaging |
Het |
| Klhl41 |
T |
C |
2: 69,505,044 (GRCm39) |
I449T |
probably damaging |
Het |
| Lama5 |
A |
T |
2: 179,830,367 (GRCm39) |
I1880N |
probably benign |
Het |
| Lcp1 |
A |
G |
14: 75,443,629 (GRCm39) |
D215G |
probably damaging |
Het |
| Lrch3 |
A |
G |
16: 32,770,790 (GRCm39) |
T131A |
probably damaging |
Het |
| Mroh6 |
T |
C |
15: 75,760,341 (GRCm39) |
T78A |
probably benign |
Het |
| Naa15 |
T |
G |
3: 51,363,294 (GRCm39) |
V326G |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,837,346 (GRCm39) |
Q6L |
probably benign |
Het |
| Nipbl |
T |
A |
15: 8,352,074 (GRCm39) |
I1863L |
probably damaging |
Het |
| Obi1 |
C |
T |
14: 104,716,910 (GRCm39) |
V488I |
probably benign |
Het |
| Os9 |
C |
T |
10: 126,934,412 (GRCm39) |
G408D |
probably benign |
Het |
| Pcbp2 |
T |
C |
15: 102,397,225 (GRCm39) |
S237P |
probably damaging |
Het |
| Pcdhb10 |
G |
A |
18: 37,546,529 (GRCm39) |
R535H |
probably benign |
Het |
| Pex5l |
A |
T |
3: 33,012,947 (GRCm39) |
I320K |
probably damaging |
Het |
| Pgm2 |
T |
C |
5: 64,258,318 (GRCm39) |
F101S |
probably benign |
Het |
| Phf8-ps |
A |
G |
17: 33,285,200 (GRCm39) |
V534A |
probably benign |
Het |
| Poc1b |
T |
A |
10: 98,988,733 (GRCm39) |
D207E |
probably null |
Het |
| Rnf17 |
A |
T |
14: 56,761,807 (GRCm39) |
Q1623H |
possibly damaging |
Het |
| Rpap1 |
T |
C |
2: 119,608,777 (GRCm39) |
N195S |
probably benign |
Het |
| Sacs |
C |
A |
14: 61,418,149 (GRCm39) |
|
probably null |
Het |
| Scube2 |
G |
A |
7: 109,409,944 (GRCm39) |
T643M |
probably damaging |
Het |
| Sele |
C |
T |
1: 163,881,242 (GRCm39) |
L481F |
probably damaging |
Het |
| Stk32a |
A |
G |
18: 43,438,143 (GRCm39) |
Y214C |
probably damaging |
Het |
| Tex44 |
T |
A |
1: 86,354,207 (GRCm39) |
S39T |
probably benign |
Het |
| Tmem135 |
A |
T |
7: 88,893,172 (GRCm39) |
M140K |
possibly damaging |
Het |
| Tox2 |
A |
G |
2: 163,162,297 (GRCm39) |
Y354C |
probably damaging |
Het |
| Trim21 |
A |
T |
7: 102,208,419 (GRCm39) |
F433L |
probably damaging |
Het |
| Trim24 |
T |
C |
6: 37,920,420 (GRCm39) |
F406L |
probably damaging |
Het |
| Ubr1 |
G |
C |
2: 120,786,121 (GRCm39) |
H166Q |
probably null |
Het |
| Wnt16 |
T |
A |
6: 22,297,891 (GRCm39) |
Y252* |
probably null |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zfp141 |
T |
C |
7: 42,138,924 (GRCm39) |
D36G |
probably damaging |
Het |
| Zfp729a |
C |
T |
13: 67,768,265 (GRCm39) |
V655I |
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,611,074 (GRCm39) |
V217E |
possibly damaging |
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 |
|
|
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 |
|
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'- GGACAGTCTTCCTTATGCGG -3'
(R):5'- TCCCTTTGATGTGCCAGCAC -3'
Sequencing Primer
(F):5'- TTTAATCCCAGCACTCGGGAG -3'
(R):5'- CATGCACGTCTCCCTGG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation