Incidental Mutation 'IGL01735:Prl7d1'
ID |
105670 |
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 # |
IGL01735
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
27892981-27900720 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 27898372 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 47
(F47L)
|
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: F46L
PolyPhen 2
Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000021776 Gene: ENSMUSG00000021348 AA Change: F46L
Domain | Start | End | E-Value | Type |
Pfam:Hormone_1
|
17 |
240 |
1.1e-78 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145879
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224026
AA Change: F47L
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy3 |
A |
T |
12: 4,251,213 (GRCm39) |
M612L |
probably benign |
Het |
Adhfe1 |
C |
A |
1: 9,618,373 (GRCm39) |
T19K |
possibly damaging |
Het |
Atxn1 |
C |
T |
13: 45,720,198 (GRCm39) |
V566M |
probably damaging |
Het |
Bag6 |
T |
C |
17: 35,364,737 (GRCm39) |
|
probably benign |
Het |
Cdkl1 |
T |
G |
12: 69,797,514 (GRCm39) |
Y258S |
probably benign |
Het |
Chil6 |
A |
T |
3: 106,296,004 (GRCm39) |
|
probably null |
Het |
Clcn7 |
T |
C |
17: 25,370,090 (GRCm39) |
F326L |
probably benign |
Het |
Cngb3 |
A |
G |
4: 19,415,648 (GRCm39) |
Y386C |
probably damaging |
Het |
Dnah6 |
C |
A |
6: 73,053,643 (GRCm39) |
E2916* |
probably null |
Het |
Dnhd1 |
A |
G |
7: 105,362,961 (GRCm39) |
E3841G |
probably benign |
Het |
Fat1 |
G |
T |
8: 45,489,276 (GRCm39) |
V3493L |
probably benign |
Het |
Irx5 |
A |
T |
8: 93,087,331 (GRCm39) |
H421L |
probably damaging |
Het |
Kbtbd6 |
T |
C |
14: 79,690,889 (GRCm39) |
V465A |
probably damaging |
Het |
Kcp |
T |
A |
6: 29,498,878 (GRCm39) |
N340I |
probably damaging |
Het |
Klhdc2 |
A |
G |
12: 69,347,053 (GRCm39) |
M73V |
probably benign |
Het |
Lpar1 |
A |
G |
4: 58,437,407 (GRCm39) |
S341P |
probably damaging |
Het |
Lrba |
G |
A |
3: 86,234,968 (GRCm39) |
V838I |
probably benign |
Het |
Med12l |
A |
G |
3: 59,170,675 (GRCm39) |
I1652V |
probably damaging |
Het |
Myo5c |
A |
T |
9: 75,208,720 (GRCm39) |
D1677V |
probably damaging |
Het |
Ncoa2 |
A |
T |
1: 13,235,127 (GRCm39) |
N935K |
probably benign |
Het |
Nfrkb |
T |
C |
9: 31,321,435 (GRCm39) |
S711P |
possibly damaging |
Het |
Or1j20 |
C |
A |
2: 36,759,698 (GRCm39) |
T40K |
possibly damaging |
Het |
Or52ae7 |
T |
C |
7: 103,119,530 (GRCm39) |
F95L |
probably damaging |
Het |
Or5w16 |
A |
G |
2: 87,576,650 (GRCm39) |
I37V |
probably benign |
Het |
Pramel27 |
A |
G |
4: 143,578,401 (GRCm39) |
I220M |
probably damaging |
Het |
Ptprd |
A |
C |
4: 76,055,057 (GRCm39) |
|
probably null |
Het |
Rsph14 |
C |
A |
10: 74,860,992 (GRCm39) |
G103C |
probably damaging |
Het |
Slco1a4 |
A |
G |
6: 141,763,477 (GRCm39) |
F413S |
probably benign |
Het |
Slfn9 |
A |
G |
11: 82,873,158 (GRCm39) |
Y582H |
probably damaging |
Het |
Tcirg1 |
A |
T |
19: 3,954,210 (GRCm39) |
|
probably benign |
Het |
Trac |
G |
A |
14: 54,460,438 (GRCm39) |
|
probably benign |
Het |
Wbp2nl |
G |
T |
15: 82,198,017 (GRCm39) |
V185L |
probably benign |
Het |
|
Other mutations in Prl7d1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01390:Prl7d1
|
APN |
13 |
27,894,149 (GRCm39) |
missense |
possibly damaging |
0.91 |
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 |
2014-01-21 |