Incidental Mutation 'IGL02139:Prl7d1'
| ID |
281450 |
| 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 # |
IGL02139
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
27706337-27716736 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27712083 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 104
(I104F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021776]
[ENSMUST00000224026]
|
| AlphaFold |
P04769 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021776
AA Change: I103F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021776
Gene: ENSMUSG00000021348
AA Change: I103F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hormone_1
|
17 |
240 |
1.1e-78 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145879
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224026
AA Change: I104F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
G |
A |
4: 124,610,576 (GRCm38) |
T61M |
unknown |
Het |
| Adam34l |
T |
A |
8: 43,625,578 (GRCm38) |
R536S |
probably benign |
Het |
| Ambn |
T |
C |
5: 88,465,290 (GRCm38) |
F217L |
probably benign |
Het |
| Cast |
T |
C |
13: 74,728,365 (GRCm38) |
D121G |
possibly damaging |
Het |
| Clmn |
T |
C |
12: 104,781,099 (GRCm38) |
I730V |
probably benign |
Het |
| Cryzl1 |
T |
C |
16: 91,712,251 (GRCm38) |
K54R |
possibly damaging |
Het |
| Cyp3a16 |
A |
G |
5: 145,455,480 (GRCm38) |
S222P |
probably benign |
Het |
| Dcstamp |
T |
C |
15: 39,754,458 (GRCm38) |
S88P |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,192,674 (GRCm38) |
D906G |
possibly damaging |
Het |
| Fam193a |
A |
G |
5: 34,444,737 (GRCm38) |
T428A |
probably benign |
Het |
| Fbxw16 |
T |
G |
9: 109,436,686 (GRCm38) |
D355A |
probably benign |
Het |
| Focad |
T |
C |
4: 88,129,054 (GRCm38) |
|
probably null |
Het |
| Ftsj3 |
G |
A |
11: 106,254,663 (GRCm38) |
P82S |
possibly damaging |
Het |
| Grwd1 |
A |
T |
7: 45,827,243 (GRCm38) |
H307Q |
probably damaging |
Het |
| Hip1r |
T |
C |
5: 123,996,244 (GRCm38) |
F289S |
probably damaging |
Het |
| Igkc |
C |
T |
6: 70,726,575 (GRCm38) |
R47* |
probably null |
Het |
| Lcn3 |
T |
C |
2: 25,766,634 (GRCm38) |
F100S |
possibly damaging |
Het |
| Lmnb1 |
T |
C |
18: 56,749,799 (GRCm38) |
F572S |
probably benign |
Het |
| Mrps17 |
T |
A |
5: 129,716,796 (GRCm38) |
I18N |
probably damaging |
Het |
| Myo9a |
G |
A |
9: 59,779,992 (GRCm38) |
V127I |
probably benign |
Het |
| Or2l13b |
T |
C |
16: 19,530,890 (GRCm38) |
D10G |
probably benign |
Het |
| Or4c35 |
T |
C |
2: 89,978,429 (GRCm38) |
V217A |
possibly damaging |
Het |
| Or5g23 |
T |
A |
2: 85,608,230 (GRCm38) |
K227* |
probably null |
Het |
| Pcdhb21 |
A |
G |
18: 37,515,246 (GRCm38) |
D476G |
probably damaging |
Het |
| Pkd2l2 |
T |
A |
18: 34,412,715 (GRCm38) |
Y56* |
probably null |
Het |
| Pld1 |
C |
A |
3: 28,120,812 (GRCm38) |
D86E |
probably damaging |
Het |
| Plpp1 |
A |
G |
13: 112,856,899 (GRCm38) |
T122A |
probably benign |
Het |
| Prkag3 |
A |
G |
1: 74,740,724 (GRCm38) |
I484T |
probably benign |
Het |
| Prr14l |
A |
G |
5: 32,827,532 (GRCm38) |
S1540P |
probably damaging |
Het |
| Pyroxd1 |
T |
G |
6: 142,354,731 (GRCm38) |
S196A |
probably benign |
Het |
| Rbm42 |
G |
A |
7: 30,645,705 (GRCm38) |
P185S |
unknown |
Het |
| Ror2 |
T |
A |
13: 53,111,164 (GRCm38) |
I619F |
probably damaging |
Het |
| Slitrk4 |
T |
G |
X: 64,270,949 (GRCm38) |
E704A |
probably benign |
Het |
| Sycp1 |
A |
G |
3: 102,865,114 (GRCm38) |
V626A |
probably benign |
Het |
| Trmt44 |
T |
A |
5: 35,568,799 (GRCm38) |
K345* |
probably null |
Het |
| Ugt1a6b |
T |
A |
1: 88,107,805 (GRCm38) |
|
probably benign |
Het |
| Ulk4 |
T |
A |
9: 121,141,831 (GRCm38) |
|
probably null |
Het |
| Zfp618 |
G |
T |
4: 63,133,536 (GRCm38) |
K758N |
probably damaging |
Het |
| Zfp819 |
G |
T |
7: 43,612,110 (GRCm38) |
|
probably null |
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 |
|
IGL01735:Prl7d1
|
APN |
13 |
27,714,389 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
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 |
2015-04-16 |
Incidental Mutation