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, PRP, PLF-RP |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01735
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
27706337-27716736 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27714389 bp (GRCm38)
|
| 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: 4,201,213 (GRCm38) |
M612L |
probably benign |
Het |
| Adhfe1 |
C |
A |
1: 9,548,148 (GRCm38) |
T19K |
possibly damaging |
Het |
| Atxn1 |
C |
T |
13: 45,566,722 (GRCm38) |
V566M |
probably damaging |
Het |
| Bag6 |
T |
C |
17: 35,145,761 (GRCm38) |
|
probably benign |
Het |
| Cdkl1 |
T |
G |
12: 69,750,740 (GRCm38) |
Y258S |
probably benign |
Het |
| Chil6 |
A |
T |
3: 106,388,688 (GRCm38) |
|
probably null |
Het |
| Clcn7 |
T |
C |
17: 25,151,116 (GRCm38) |
F326L |
probably benign |
Het |
| Cngb3 |
A |
G |
4: 19,415,648 (GRCm38) |
Y386C |
probably damaging |
Het |
| Dnah6 |
C |
A |
6: 73,076,660 (GRCm38) |
E2916* |
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,713,754 (GRCm38) |
E3841G |
probably benign |
Het |
| Fat1 |
G |
T |
8: 45,036,239 (GRCm38) |
V3493L |
probably benign |
Het |
| Irx5 |
A |
T |
8: 92,360,703 (GRCm38) |
H421L |
probably damaging |
Het |
| Kbtbd6 |
T |
C |
14: 79,453,449 (GRCm38) |
V465A |
probably damaging |
Het |
| Kcp |
T |
A |
6: 29,498,879 (GRCm38) |
N340I |
probably damaging |
Het |
| Klhdc2 |
A |
G |
12: 69,300,279 (GRCm38) |
M73V |
probably benign |
Het |
| Lpar1 |
A |
G |
4: 58,437,407 (GRCm38) |
S341P |
probably damaging |
Het |
| Lrba |
G |
A |
3: 86,327,661 (GRCm38) |
V838I |
probably benign |
Het |
| Med12l |
A |
G |
3: 59,263,254 (GRCm38) |
I1652V |
probably damaging |
Het |
| Myo5c |
A |
T |
9: 75,301,438 (GRCm38) |
D1677V |
probably damaging |
Het |
| Ncoa2 |
A |
T |
1: 13,164,903 (GRCm38) |
N935K |
probably benign |
Het |
| Nfrkb |
T |
C |
9: 31,410,139 (GRCm38) |
S711P |
possibly damaging |
Het |
| Or1j20 |
C |
A |
2: 36,869,686 (GRCm38) |
T40K |
possibly damaging |
Het |
| Or52ae7 |
T |
C |
7: 103,470,323 (GRCm38) |
F95L |
probably damaging |
Het |
| Or5w16 |
A |
G |
2: 87,746,306 (GRCm38) |
I37V |
probably benign |
Het |
| Pramel27 |
A |
G |
4: 143,851,831 (GRCm38) |
I220M |
probably damaging |
Het |
| Ptprd |
A |
C |
4: 76,136,820 (GRCm38) |
|
probably null |
Het |
| Rsph14 |
C |
A |
10: 75,025,160 (GRCm38) |
G103C |
probably damaging |
Het |
| Slco1a4 |
A |
G |
6: 141,817,751 (GRCm38) |
F413S |
probably benign |
Het |
| Slfn9 |
A |
G |
11: 82,982,332 (GRCm38) |
Y582H |
probably damaging |
Het |
| Tcirg1 |
A |
T |
19: 3,904,210 (GRCm38) |
|
probably benign |
Het |
| Trac |
G |
A |
14: 54,222,981 (GRCm38) |
|
probably benign |
Het |
| Wbp2nl |
G |
T |
15: 82,313,816 (GRCm38) |
V185L |
probably benign |
Het |
|
| Other mutations in Prl7d1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01390:Prl7d1
|
APN |
13 |
27,710,166 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL02139:Prl7d1
|
APN |
13 |
27,712,083 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4305001:Prl7d1
|
UTSW |
13 |
27,714,337 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
PIT4531001:Prl7d1
|
UTSW |
13 |
27,710,178 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0555:Prl7d1
|
UTSW |
13 |
27,712,055 (GRCm38) |
missense |
probably benign |
0.13 |
|
R0625:Prl7d1
|
UTSW |
13 |
27,710,140 (GRCm38) |
missense |
probably benign |
0.10 |
|
R0631:Prl7d1
|
UTSW |
13 |
27,710,182 (GRCm38) |
missense |
probably benign |
0.32 |
|
R0837:Prl7d1
|
UTSW |
13 |
27,714,338 (GRCm38) |
missense |
probably benign |
0.06 |
|
R1403:Prl7d1
|
UTSW |
13 |
27,709,197 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1403:Prl7d1
|
UTSW |
13 |
27,709,197 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1459:Prl7d1
|
UTSW |
13 |
27,709,257 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R1643:Prl7d1
|
UTSW |
13 |
27,712,131 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R1691:Prl7d1
|
UTSW |
13 |
27,709,382 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2016:Prl7d1
|
UTSW |
13 |
27,710,173 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3873:Prl7d1
|
UTSW |
13 |
27,716,668 (GRCm38) |
start codon destroyed |
probably null |
0.92 |
|
R3874:Prl7d1
|
UTSW |
13 |
27,716,668 (GRCm38) |
start codon destroyed |
probably null |
0.92 |
|
R5251:Prl7d1
|
UTSW |
13 |
27,709,244 (GRCm38) |
missense |
probably benign |
0.33 |
|
R5275:Prl7d1
|
UTSW |
13 |
27,709,247 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5295:Prl7d1
|
UTSW |
13 |
27,709,247 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5398:Prl7d1
|
UTSW |
13 |
27,710,074 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6798:Prl7d1
|
UTSW |
13 |
27,709,397 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R6818:Prl7d1
|
UTSW |
13 |
27,714,471 (GRCm38) |
missense |
probably benign |
0.07 |
|
R6825:Prl7d1
|
UTSW |
13 |
27,710,142 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7478:Prl7d1
|
UTSW |
13 |
27,710,185 (GRCm38) |
nonsense |
probably null |
|
|
R7795:Prl7d1
|
UTSW |
13 |
27,709,280 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7995:Prl7d1
|
UTSW |
13 |
27,710,071 (GRCm38) |
missense |
probably benign |
|
|
R8193:Prl7d1
|
UTSW |
13 |
27,709,247 (GRCm38) |
missense |
|
|
|
R9313:Prl7d1
|
UTSW |
13 |
27,709,199 (GRCm38) |
missense |
probably benign |
|
|
R9424:Prl7d1
|
UTSW |
13 |
27,710,202 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9430:Prl7d1
|
UTSW |
13 |
27,714,377 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R9733:Prl7d1
|
UTSW |
13 |
27,714,356 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9758:Prl7d1
|
UTSW |
13 |
27,709,277 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
| Posted On |
2014-01-21 |
Incidental Mutation