Incidental Mutation 'IGL02704:Pou1f1'
| ID |
304253 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pou1f1
|
| Ensembl Gene |
ENSMUSG00000004842 |
| Gene Name |
POU domain, class 1, transcription factor 1 |
| Synonyms |
Hmp1, Pit1, GHF-1, Pit1-rs1, Pit-1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.916)
|
| Stock # |
IGL02704
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
65317397-65331891 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 65326685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 121
(Q121L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135574
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004964]
[ENSMUST00000176038]
[ENSMUST00000176330]
[ENSMUST00000184525]
|
| AlphaFold |
Q00286 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000004964
AA Change: Q121L
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000004964
Gene: ENSMUSG00000004842
AA Change: Q121L
| Domain | Start | End | E-Value | Type |
|---|
|
POU
|
150 |
224 |
3.77e-51 |
SMART |
|
HOX
|
240 |
302 |
2.07e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175882
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176038
AA Change: Q121L
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135574
Gene: ENSMUSG00000004842
AA Change: Q121L
| Domain | Start | End | E-Value | Type |
|---|
|
POU
|
150 |
224 |
3.77e-51 |
SMART |
|
HOX
|
240 |
302 |
2.07e-19 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176330
AA Change: Q95L
PolyPhen 2
Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000135113
Gene: ENSMUSG00000004842
AA Change: Q95L
| Domain | Start | End | E-Value | Type |
|---|
|
POU
|
124 |
198 |
3.77e-51 |
SMART |
|
HOX
|
214 |
276 |
2.07e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184525
AA Change: Q93L
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000139087
Gene: ENSMUSG00000004842
AA Change: Q93L
| Domain | Start | End | E-Value | Type |
|---|
|
POU
|
122 |
196 |
3.77e-51 |
SMART |
|
HOX
|
212 |
274 |
2.07e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232553
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for spontaneous mutations exhibit hypoplasia of the anterior pituitary cells resulting in deficiencies in growth hormone, prolactin, and thyroid-stimulating hormone, dwarfism, and sterility. [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 |
|---|
| Accs |
G |
T |
2: 93,673,271 (GRCm39) |
P162Q |
probably damaging |
Het |
| Alb |
A |
G |
5: 90,616,368 (GRCm39) |
N291S |
possibly damaging |
Het |
| Ankar |
T |
C |
1: 72,691,502 (GRCm39) |
D935G |
possibly damaging |
Het |
| Atp13a5 |
A |
T |
16: 29,070,080 (GRCm39) |
C935* |
probably null |
Het |
| Bivm |
A |
T |
1: 44,165,606 (GRCm39) |
T19S |
probably benign |
Het |
| Ddah2 |
C |
A |
17: 35,279,983 (GRCm39) |
D158E |
possibly damaging |
Het |
| Dnah7b |
C |
T |
1: 46,181,293 (GRCm39) |
T1060I |
probably benign |
Het |
| Efhb |
T |
C |
17: 53,733,297 (GRCm39) |
T525A |
probably damaging |
Het |
| Exoc3 |
A |
G |
13: 74,322,263 (GRCm39) |
M604T |
probably benign |
Het |
| Frmpd1 |
T |
G |
4: 45,285,082 (GRCm39) |
I1301S |
possibly damaging |
Het |
| Gm5269 |
T |
C |
1: 45,929,235 (GRCm39) |
T2A |
probably benign |
Het |
| Hif3a |
T |
A |
7: 16,784,686 (GRCm39) |
|
probably benign |
Het |
| Hpgds |
A |
T |
6: 65,100,621 (GRCm39) |
L119* |
probably null |
Het |
| Iars1 |
A |
G |
13: 49,874,576 (GRCm39) |
D750G |
probably damaging |
Het |
| Ift43 |
T |
A |
12: 86,207,951 (GRCm39) |
D106E |
probably benign |
Het |
| Iqub |
T |
A |
6: 24,505,909 (GRCm39) |
|
probably benign |
Het |
| Lamb1 |
A |
G |
12: 31,368,466 (GRCm39) |
K1199E |
probably benign |
Het |
| Mast3 |
T |
A |
8: 71,239,519 (GRCm39) |
I395F |
probably damaging |
Het |
| Megf8 |
T |
C |
7: 25,059,207 (GRCm39) |
S2236P |
probably damaging |
Het |
| Met |
T |
A |
6: 17,491,256 (GRCm39) |
V6E |
possibly damaging |
Het |
| Muc5ac |
A |
T |
7: 141,349,000 (GRCm39) |
T479S |
possibly damaging |
Het |
| Myo7b |
T |
C |
18: 32,100,014 (GRCm39) |
T1623A |
probably benign |
Het |
| Neto1 |
T |
C |
18: 86,491,948 (GRCm39) |
L283P |
probably damaging |
Het |
| Onecut1 |
A |
G |
9: 74,770,312 (GRCm39) |
N245S |
probably damaging |
Het |
| Or2t6 |
T |
C |
14: 14,175,483 (GRCm38) |
I200V |
probably benign |
Het |
| Or4k41 |
A |
T |
2: 111,279,492 (GRCm39) |
E2D |
probably benign |
Het |
| Or8b52 |
G |
A |
9: 38,577,063 (GRCm39) |
P26S |
possibly damaging |
Het |
| Or8g34 |
T |
C |
9: 39,373,579 (GRCm39) |
V284A |
probably damaging |
Het |
| Or8i2 |
T |
C |
2: 86,852,621 (GRCm39) |
Q89R |
probably benign |
Het |
| Pkd1l1 |
A |
G |
11: 8,784,910 (GRCm39) |
V1958A |
probably benign |
Het |
| Plb1 |
C |
T |
5: 32,511,011 (GRCm39) |
A1292V |
probably benign |
Het |
| Plekha5 |
A |
G |
6: 140,489,592 (GRCm39) |
E223G |
probably damaging |
Het |
| Rbm25 |
G |
A |
12: 83,689,500 (GRCm39) |
G47D |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 51,983,588 (GRCm39) |
M577K |
probably damaging |
Het |
| Scn8a |
A |
G |
15: 100,905,943 (GRCm39) |
E712G |
possibly damaging |
Het |
| Snx24 |
A |
G |
18: 53,460,509 (GRCm39) |
N29S |
probably benign |
Het |
| Tmem217 |
A |
T |
17: 29,745,532 (GRCm39) |
V66D |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,597,985 (GRCm39) |
N19643H |
probably damaging |
Het |
| Uimc1 |
T |
C |
13: 55,178,772 (GRCm39) |
T646A |
probably benign |
Het |
|
| Other mutations in Pou1f1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02086:Pou1f1
|
APN |
16 |
65,326,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02416:Pou1f1
|
APN |
16 |
65,328,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02938:Pou1f1
|
APN |
16 |
65,320,430 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1780:Pou1f1
|
UTSW |
16 |
65,320,356 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4742:Pou1f1
|
UTSW |
16 |
65,320,367 (GRCm39) |
missense |
probably benign |
|
|
R4881:Pou1f1
|
UTSW |
16 |
65,328,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5262:Pou1f1
|
UTSW |
16 |
65,328,868 (GRCm39) |
nonsense |
probably null |
|
|
R7404:Pou1f1
|
UTSW |
16 |
65,330,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7612:Pou1f1
|
UTSW |
16 |
65,326,811 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9072:Pou1f1
|
UTSW |
16 |
65,328,833 (GRCm39) |
missense |
|
|
|
R9073:Pou1f1
|
UTSW |
16 |
65,328,833 (GRCm39) |
missense |
|
|
|
R9168:Pou1f1
|
UTSW |
16 |
65,317,427 (GRCm39) |
unclassified |
probably benign |
|
|
R9477:Pou1f1
|
UTSW |
16 |
65,320,503 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9512:Pou1f1
|
UTSW |
16 |
65,320,502 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9712:Pou1f1
|
UTSW |
16 |
65,326,758 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2015-04-16 |
Incidental Mutation