Incidental Mutation 'IGL01676:Prop1'
| ID |
103633 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prop1
|
| Ensembl Gene |
ENSMUSG00000044542 |
| Gene Name |
paired like homeodomain factor 1 |
| Synonyms |
Prop-1, prophet of Pit-1, prophet of Pit1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.768)
|
| Stock # |
IGL01676
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
50841633-50844584 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 50842956 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 77
(Q77L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057231
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051159]
[ENSMUST00000162420]
|
| AlphaFold |
P97458 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051159
AA Change: Q77L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000057231
Gene: ENSMUSG00000044542
AA Change: Q77L
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
66 |
128 |
4.85e-25 |
SMART |
|
low complexity region
|
150 |
168 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
213 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159179
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162420
|
| 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 paired-like homeodomain transcription factor in the developing pituitary gland. Expression occurs prior to and is required for expression of pou domain transcription factor 1, which is responsible for pituitary development and hormone expression. Mutations in this gene have been associated with combined pituitary hormone deficiency-2 as well as deficiencies in luteinizing hormone, follicle-stimulating hormone, growth hormone, prolactin, and thyroid-stimulating hormone. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit severe proportional dwarfism, hypothyroidism, and sterility. Mutants fail to develop the anterior pituitary cells that secrete growth hormone, prolactin, and thyroid stimulating hormone. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
A |
T |
7: 119,307,866 (GRCm39) |
R334S |
probably benign |
Het |
| Adamts3 |
A |
T |
5: 89,825,613 (GRCm39) |
F1075L |
probably benign |
Het |
| Adamts3 |
A |
G |
5: 90,029,402 (GRCm39) |
V30A |
possibly damaging |
Het |
| Bpifb5 |
A |
G |
2: 154,070,969 (GRCm39) |
N223D |
possibly damaging |
Het |
| Cacna1e |
T |
C |
1: 154,274,222 (GRCm39) |
R2228G |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,288,196 (GRCm39) |
E1894G |
probably damaging |
Het |
| Calr4 |
A |
G |
4: 109,101,447 (GRCm39) |
K110E |
probably damaging |
Het |
| Catsperz |
G |
T |
19: 6,902,421 (GRCm39) |
Y24* |
probably null |
Het |
| Clec9a |
T |
G |
6: 129,398,118 (GRCm39) |
S219A |
probably benign |
Het |
| Csrnp3 |
T |
A |
2: 65,779,336 (GRCm39) |
I16N |
probably damaging |
Het |
| Ddx19a |
A |
G |
8: 111,707,621 (GRCm39) |
|
probably null |
Het |
| Diaph1 |
G |
A |
18: 37,989,241 (GRCm39) |
Q905* |
probably null |
Het |
| Dnah10 |
T |
C |
5: 124,880,392 (GRCm39) |
M2743T |
possibly damaging |
Het |
| Ears2 |
A |
T |
7: 121,643,781 (GRCm39) |
D392E |
probably benign |
Het |
| Fsip1 |
T |
C |
2: 118,070,865 (GRCm39) |
|
probably benign |
Het |
| Ighv1-74 |
T |
C |
12: 115,766,323 (GRCm39) |
Y98C |
possibly damaging |
Het |
| Igsf10 |
T |
C |
3: 59,233,432 (GRCm39) |
K1767R |
probably benign |
Het |
| Igsf10 |
C |
T |
3: 59,236,756 (GRCm39) |
A1142T |
probably benign |
Het |
| Lpar6 |
A |
G |
14: 73,477,010 (GRCm39) |
N324D |
probably benign |
Het |
| Lrit1 |
T |
A |
14: 36,779,394 (GRCm39) |
L109Q |
probably damaging |
Het |
| Nlrp4f |
A |
T |
13: 65,342,933 (GRCm39) |
D237E |
possibly damaging |
Het |
| Oas1h |
G |
T |
5: 121,009,897 (GRCm39) |
G324V |
probably damaging |
Het |
| Pak1 |
T |
G |
7: 97,532,738 (GRCm39) |
D179E |
probably benign |
Het |
| Scn10a |
A |
T |
9: 119,501,231 (GRCm39) |
Y184* |
probably null |
Het |
| Sdk1 |
T |
C |
5: 142,113,591 (GRCm39) |
F1546S |
probably damaging |
Het |
| Trim67 |
A |
T |
8: 125,541,899 (GRCm39) |
I366F |
possibly damaging |
Het |
| Vmn2r94 |
T |
G |
17: 18,477,272 (GRCm39) |
M380L |
probably benign |
Het |
| Vmn2r-ps158 |
A |
G |
7: 42,674,133 (GRCm39) |
N397S |
probably damaging |
Het |
| Zfand3 |
T |
G |
17: 30,354,337 (GRCm39) |
S51R |
possibly damaging |
Het |
| Zfp36l3 |
T |
C |
X: 52,777,624 (GRCm39) |
S197G |
probably benign |
Het |
|
| Other mutations in Prop1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02192:Prop1
|
APN |
11 |
50,844,113 (GRCm39) |
splice site |
probably benign |
|
|
IGL02219:Prop1
|
APN |
11 |
50,842,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02551:Prop1
|
APN |
11 |
50,841,773 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1642:Prop1
|
UTSW |
11 |
50,844,152 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4909:Prop1
|
UTSW |
11 |
50,842,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4909:Prop1
|
UTSW |
11 |
50,842,863 (GRCm39) |
frame shift |
probably null |
|
|
R5743:Prop1
|
UTSW |
11 |
50,841,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5879:Prop1
|
UTSW |
11 |
50,844,153 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6324:Prop1
|
UTSW |
11 |
50,843,026 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6721:Prop1
|
UTSW |
11 |
50,844,213 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7162:Prop1
|
UTSW |
11 |
50,842,881 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8995:Prop1
|
UTSW |
11 |
50,841,887 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9049:Prop1
|
UTSW |
11 |
50,842,948 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9132:Prop1
|
UTSW |
11 |
50,843,037 (GRCm39) |
missense |
|
|
|
RF005:Prop1
|
UTSW |
11 |
50,841,957 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
RF024:Prop1
|
UTSW |
11 |
50,841,957 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
| Posted On |
2014-01-21 |
Incidental Mutation