Incidental Mutation 'IGL02549:Pou5f2'
| ID |
297966 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pou5f2
|
| Ensembl Gene |
ENSMUSG00000093668 |
| Gene Name |
POU domain class 5, transcription factor 2 |
| Synonyms |
Sprm1, 1700013G10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
IGL02549
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
78173021-78174414 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78173709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 217
(L217Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091459]
[ENSMUST00000099358]
[ENSMUST00000163257]
[ENSMUST00000175955]
[ENSMUST00000224217]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091459
|
| SMART Domains |
Protein: ENSMUSP00000089038
Gene: ENSMUSG00000064138
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arb2
|
30 |
178 |
7.8e-38 |
PFAM |
|
SCOP:d1imja_
|
224 |
295 |
2e-3 |
SMART |
|
low complexity region
|
341 |
354 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099358
|
| SMART Domains |
Protein: ENSMUSP00000096960
Gene: ENSMUSG00000064138
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1imja_
|
160 |
231 |
2e-3 |
SMART |
|
low complexity region
|
277 |
290 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163257
|
| SMART Domains |
Protein: ENSMUSP00000133140
Gene: ENSMUSG00000064138
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Arb2
|
78 |
228 |
3.5e-44 |
PFAM |
|
SCOP:d1imja_
|
270 |
341 |
2e-3 |
SMART |
|
low complexity region
|
387 |
400 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175955
AA Change: L217Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135597
Gene: ENSMUSG00000093668
AA Change: L217Q
| Domain | Start | End | E-Value | Type |
|---|
|
POU
|
107 |
181 |
8.68e-33 |
SMART |
|
HOX
|
199 |
261 |
2.57e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224217
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null male mice exhibit reduced male fertility in spite of normal morphology and sperm count. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 109,992,879 (GRCm39) |
E1595G |
probably damaging |
Het |
| Adnp2 |
G |
A |
18: 80,172,333 (GRCm39) |
A692V |
probably damaging |
Het |
| Ankk1 |
A |
G |
9: 49,329,993 (GRCm39) |
S321P |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,618,032 (GRCm39) |
Y1919C |
probably damaging |
Het |
| Atp10a |
A |
G |
7: 58,469,481 (GRCm39) |
T1111A |
probably benign |
Het |
| Avpr1a |
A |
T |
10: 122,288,069 (GRCm39) |
H359L |
possibly damaging |
Het |
| C1rl |
A |
T |
6: 124,470,796 (GRCm39) |
I35F |
possibly damaging |
Het |
| Casp8 |
G |
A |
1: 58,872,925 (GRCm39) |
C287Y |
probably benign |
Het |
| Ccdc88c |
A |
T |
12: 100,895,191 (GRCm39) |
S1437T |
probably benign |
Het |
| Cd200r1 |
C |
T |
16: 44,610,341 (GRCm39) |
P150S |
probably damaging |
Het |
| Col2a1 |
G |
A |
15: 97,875,680 (GRCm39) |
R1202C |
unknown |
Het |
| Copb1 |
A |
T |
7: 113,846,032 (GRCm39) |
D179E |
probably benign |
Het |
| Cyp2c29 |
C |
T |
19: 39,298,229 (GRCm39) |
T258I |
possibly damaging |
Het |
| Flacc1 |
T |
C |
1: 58,698,441 (GRCm39) |
T326A |
probably benign |
Het |
| Gemin5 |
T |
C |
11: 58,025,629 (GRCm39) |
Y991C |
probably damaging |
Het |
| Gm4978 |
T |
C |
9: 69,357,641 (GRCm39) |
|
probably benign |
Het |
| Gm7732 |
A |
T |
17: 21,349,649 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy2f |
T |
C |
X: 140,943,200 (GRCm39) |
I478V |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,307,183 (GRCm39) |
H1001R |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,236,662 (GRCm39) |
V1173A |
probably benign |
Het |
| Kansl1l |
T |
C |
1: 66,841,127 (GRCm39) |
T58A |
probably benign |
Het |
| Kcnk13 |
A |
T |
12: 100,028,010 (GRCm39) |
K362* |
probably null |
Het |
| Lama1 |
T |
G |
17: 68,097,830 (GRCm39) |
L1737V |
possibly damaging |
Het |
| Lama4 |
A |
G |
10: 38,936,200 (GRCm39) |
N625S |
probably benign |
Het |
| Loxl1 |
A |
T |
9: 58,200,921 (GRCm39) |
C514S |
probably damaging |
Het |
| Muc13 |
A |
C |
16: 33,628,339 (GRCm39) |
E363A |
probably damaging |
Het |
| Noxo1 |
G |
T |
17: 24,919,145 (GRCm39) |
G289V |
probably damaging |
Het |
| Nudt7 |
G |
T |
8: 114,878,688 (GRCm39) |
D239Y |
probably damaging |
Het |
| Polr3e |
G |
T |
7: 120,538,982 (GRCm39) |
V407F |
probably damaging |
Het |
| R3hdm2 |
A |
G |
10: 127,320,094 (GRCm39) |
|
probably benign |
Het |
| Rab11fip3 |
A |
C |
17: 26,213,294 (GRCm39) |
N793K |
probably damaging |
Het |
| Ranbp3l |
A |
G |
15: 8,997,925 (GRCm39) |
R6G |
possibly damaging |
Het |
| Slco1a6 |
T |
A |
6: 142,042,141 (GRCm39) |
|
probably benign |
Het |
| Sspo |
A |
G |
6: 48,428,707 (GRCm39) |
E374G |
possibly damaging |
Het |
| Tg |
T |
C |
15: 66,711,210 (GRCm39) |
Y991H |
probably damaging |
Het |
| Tnc |
A |
G |
4: 63,933,309 (GRCm39) |
Y652H |
probably damaging |
Het |
| Trpc4 |
G |
A |
3: 54,129,770 (GRCm39) |
V179I |
possibly damaging |
Het |
| Xirp2 |
A |
G |
2: 67,343,446 (GRCm39) |
T1896A |
probably benign |
Het |
| Zfhx3 |
T |
C |
8: 109,527,141 (GRCm39) |
Y1013H |
probably damaging |
Het |
|
| Other mutations in Pou5f2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01018:Pou5f2
|
APN |
13 |
78,174,057 (GRCm39) |
intron |
probably benign |
|
|
IGL01726:Pou5f2
|
APN |
13 |
78,173,300 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02484:Pou5f2
|
APN |
13 |
78,174,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02850:Pou5f2
|
APN |
13 |
78,173,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02852:Pou5f2
|
APN |
13 |
78,173,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02951:Pou5f2
|
APN |
13 |
78,173,237 (GRCm39) |
missense |
probably benign |
|
|
R0631:Pou5f2
|
UTSW |
13 |
78,173,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1502:Pou5f2
|
UTSW |
13 |
78,173,370 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2014:Pou5f2
|
UTSW |
13 |
78,173,972 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2055:Pou5f2
|
UTSW |
13 |
78,173,940 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4082:Pou5f2
|
UTSW |
13 |
78,174,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5193:Pou5f2
|
UTSW |
13 |
78,173,083 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5487:Pou5f2
|
UTSW |
13 |
78,173,118 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6880:Pou5f2
|
UTSW |
13 |
78,173,613 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7108:Pou5f2
|
UTSW |
13 |
78,173,384 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7117:Pou5f2
|
UTSW |
13 |
78,173,392 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8334:Pou5f2
|
UTSW |
13 |
78,173,392 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8836:Pou5f2
|
UTSW |
13 |
78,173,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9290:Pou5f2
|
UTSW |
13 |
78,173,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9584:Pou5f2
|
UTSW |
13 |
78,173,592 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1176:Pou5f2
|
UTSW |
13 |
78,173,216 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Pou5f2
|
UTSW |
13 |
78,173,820 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation