Incidental Mutation 'IGL01390:Prl7d1'
| ID |
79177 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prl7d1
|
| Ensembl Gene |
ENSMUSG00000021348 |
| Gene Name |
prolactin family 7, subfamily d, member 1 |
| Synonyms |
Plfr, PLF-RP, PRP |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01390
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
27892981-27900720 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27894149 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 140
(V140A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021776]
[ENSMUST00000224026]
|
| AlphaFold |
P04769 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021776
AA Change: V139A
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000021776
Gene: ENSMUSG00000021348
AA Change: V139A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hormone_1
|
17 |
240 |
1.1e-78 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224026
AA Change: V140A
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp6v0a1 |
A |
G |
11: 100,934,628 (GRCm39) |
K565R |
probably benign |
Het |
| Cacna2d3 |
T |
C |
14: 28,665,548 (GRCm39) |
T158A |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,411,686 (GRCm39) |
D3685G |
probably benign |
Het |
| Dock1 |
T |
C |
7: 134,346,776 (GRCm39) |
I236T |
possibly damaging |
Het |
| Dock6 |
A |
G |
9: 21,714,341 (GRCm39) |
V1803A |
probably damaging |
Het |
| Epb41 |
T |
C |
4: 131,731,048 (GRCm39) |
I178V |
probably benign |
Het |
| Gm10110 |
C |
A |
14: 90,135,677 (GRCm39) |
|
noncoding transcript |
Het |
| H2ac6 |
T |
C |
13: 23,867,499 (GRCm39) |
|
probably benign |
Het |
| Hoxb7 |
A |
C |
11: 96,177,837 (GRCm39) |
N95T |
probably benign |
Het |
| Ikzf2 |
C |
A |
1: 69,609,801 (GRCm39) |
C116F |
probably damaging |
Het |
| Ints8 |
A |
T |
4: 11,218,679 (GRCm39) |
|
probably benign |
Het |
| Itprid1 |
C |
T |
6: 55,874,983 (GRCm39) |
P311L |
probably benign |
Het |
| Man2a1 |
T |
C |
17: 65,017,700 (GRCm39) |
Y649H |
probably benign |
Het |
| Mcm8 |
T |
C |
2: 132,679,998 (GRCm39) |
|
probably benign |
Het |
| Msi1 |
T |
A |
5: 115,576,780 (GRCm39) |
D137E |
possibly damaging |
Het |
| Or8u10 |
T |
C |
2: 85,915,984 (GRCm39) |
I46V |
probably benign |
Het |
| Pde6c |
A |
G |
19: 38,150,376 (GRCm39) |
Y507C |
probably benign |
Het |
| Rb1 |
T |
A |
14: 73,532,439 (GRCm39) |
I132F |
probably benign |
Het |
| Rgl1 |
A |
G |
1: 152,447,339 (GRCm39) |
|
probably benign |
Het |
| Rpl18a |
G |
T |
8: 71,348,154 (GRCm39) |
|
probably benign |
Het |
| Sf3b1 |
T |
C |
1: 55,026,588 (GRCm39) |
I1274V |
probably benign |
Het |
| Slc9a3 |
A |
C |
13: 74,298,880 (GRCm39) |
I100L |
probably benign |
Het |
| Sorcs3 |
T |
A |
19: 48,778,570 (GRCm39) |
Y996N |
probably damaging |
Het |
| Sra1 |
A |
G |
18: 36,803,134 (GRCm39) |
L37P |
probably damaging |
Het |
| Stim1 |
A |
G |
7: 102,076,369 (GRCm39) |
Q440R |
possibly damaging |
Het |
| Tacc3 |
C |
T |
5: 33,825,405 (GRCm39) |
|
probably benign |
Het |
| Tas2r104 |
T |
A |
6: 131,662,448 (GRCm39) |
Y87F |
probably benign |
Het |
| Tbl2 |
T |
C |
5: 135,185,217 (GRCm39) |
|
probably benign |
Het |
| Vsig10l |
C |
T |
7: 43,115,889 (GRCm39) |
S410F |
probably damaging |
Het |
|
| Other mutations in Prl7d1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01735:Prl7d1
|
APN |
13 |
27,898,372 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02139:Prl7d1
|
APN |
13 |
27,896,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4305001:Prl7d1
|
UTSW |
13 |
27,898,320 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
PIT4531001:Prl7d1
|
UTSW |
13 |
27,894,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0555:Prl7d1
|
UTSW |
13 |
27,896,038 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0625:Prl7d1
|
UTSW |
13 |
27,894,123 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0631:Prl7d1
|
UTSW |
13 |
27,894,165 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0837:Prl7d1
|
UTSW |
13 |
27,898,321 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1403:Prl7d1
|
UTSW |
13 |
27,893,180 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1403:Prl7d1
|
UTSW |
13 |
27,893,180 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1459:Prl7d1
|
UTSW |
13 |
27,893,240 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1643:Prl7d1
|
UTSW |
13 |
27,896,114 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1691:Prl7d1
|
UTSW |
13 |
27,893,365 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2016:Prl7d1
|
UTSW |
13 |
27,894,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3873:Prl7d1
|
UTSW |
13 |
27,900,651 (GRCm39) |
start codon destroyed |
probably null |
0.92 |
|
R3874:Prl7d1
|
UTSW |
13 |
27,900,651 (GRCm39) |
start codon destroyed |
probably null |
0.92 |
|
R5251:Prl7d1
|
UTSW |
13 |
27,893,227 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5275:Prl7d1
|
UTSW |
13 |
27,893,230 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5295:Prl7d1
|
UTSW |
13 |
27,893,230 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5398:Prl7d1
|
UTSW |
13 |
27,894,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6798:Prl7d1
|
UTSW |
13 |
27,893,380 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6818:Prl7d1
|
UTSW |
13 |
27,898,454 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6825:Prl7d1
|
UTSW |
13 |
27,894,125 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7478:Prl7d1
|
UTSW |
13 |
27,894,168 (GRCm39) |
nonsense |
probably null |
|
|
R7795:Prl7d1
|
UTSW |
13 |
27,893,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7995:Prl7d1
|
UTSW |
13 |
27,894,054 (GRCm39) |
missense |
probably benign |
|
|
R8193:Prl7d1
|
UTSW |
13 |
27,893,230 (GRCm39) |
missense |
|
|
|
R9313:Prl7d1
|
UTSW |
13 |
27,893,182 (GRCm39) |
missense |
probably benign |
|
|
R9424:Prl7d1
|
UTSW |
13 |
27,894,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9430:Prl7d1
|
UTSW |
13 |
27,898,360 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9733:Prl7d1
|
UTSW |
13 |
27,898,339 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9758:Prl7d1
|
UTSW |
13 |
27,893,260 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Posted On |
2013-11-05 |
Incidental Mutation