Incidental Mutation 'IGL01688:Prl6a1'
ID |
104035 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Prl6a1
|
Ensembl Gene |
ENSMUSG00000069259 |
Gene Name |
prolactin family 6, subfamily a, member 1 |
Synonyms |
PLP-B, Prlpb |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
IGL01688
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
27496610-27503235 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 27501969 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 117
(V117E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089268
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091679]
[ENSMUST00000091680]
|
AlphaFold |
O35257 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091679
AA Change: V117E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000089268 Gene: ENSMUSG00000069259 AA Change: V117E
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
15 |
N/A |
INTRINSIC |
Pfam:Hormone_1
|
21 |
235 |
8e-65 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091680
AA Change: V112E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000089269 Gene: ENSMUSG00000069259 AA Change: V112E
Domain | Start | End | E-Value | Type |
Pfam:Hormone_1
|
16 |
230 |
1.1e-61 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119758
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
T |
C |
10: 87,000,985 (GRCm39) |
L59P |
probably damaging |
Het |
Ccin |
A |
T |
4: 43,984,985 (GRCm39) |
E464V |
possibly damaging |
Het |
Cfap58 |
A |
G |
19: 47,963,006 (GRCm39) |
D472G |
probably benign |
Het |
Col28a1 |
C |
T |
6: 7,998,517 (GRCm39) |
E1131K |
probably damaging |
Het |
Cpne2 |
A |
G |
8: 95,281,381 (GRCm39) |
T196A |
possibly damaging |
Het |
Cul4a |
A |
T |
8: 13,196,571 (GRCm39) |
R742* |
probably null |
Het |
Cyp21a1 |
T |
A |
17: 35,021,194 (GRCm39) |
I370F |
probably damaging |
Het |
Ddx51 |
T |
C |
5: 110,803,513 (GRCm39) |
F332L |
probably benign |
Het |
Gm8232 |
A |
G |
14: 44,671,179 (GRCm39) |
D29G |
unknown |
Het |
Got1 |
A |
G |
19: 43,512,775 (GRCm39) |
|
probably null |
Het |
Gpat4 |
A |
G |
8: 23,671,861 (GRCm39) |
I58T |
probably benign |
Het |
Hdac3 |
T |
A |
18: 38,087,932 (GRCm39) |
D12V |
possibly damaging |
Het |
Helb |
T |
C |
10: 119,944,885 (GRCm39) |
H217R |
probably damaging |
Het |
Hpf1 |
A |
T |
8: 61,349,830 (GRCm39) |
I153L |
probably benign |
Het |
Lgsn |
G |
A |
1: 31,243,486 (GRCm39) |
D523N |
probably damaging |
Het |
Lrrc63 |
A |
G |
14: 75,322,422 (GRCm39) |
S561P |
possibly damaging |
Het |
Myh6 |
G |
A |
14: 55,201,417 (GRCm39) |
T94I |
possibly damaging |
Het |
Mzt2 |
T |
C |
16: 15,680,793 (GRCm39) |
|
probably benign |
Het |
Ndufb5 |
T |
A |
3: 32,800,613 (GRCm39) |
L62* |
probably null |
Het |
Nek1 |
A |
T |
8: 61,558,631 (GRCm39) |
R970* |
probably null |
Het |
Nepro |
T |
C |
16: 44,556,369 (GRCm39) |
L509P |
probably damaging |
Het |
Pank1 |
T |
A |
19: 34,818,252 (GRCm39) |
I96F |
probably damaging |
Het |
Parp11 |
C |
A |
6: 127,448,569 (GRCm39) |
T62K |
probably benign |
Het |
Pla2g2e |
T |
A |
4: 138,606,781 (GRCm39) |
|
probably benign |
Het |
Plekha5 |
T |
A |
6: 140,515,115 (GRCm39) |
Y207N |
probably damaging |
Het |
Pomt2 |
T |
A |
12: 87,194,294 (GRCm39) |
I37F |
probably benign |
Het |
Prmt3 |
T |
A |
7: 49,498,480 (GRCm39) |
|
probably null |
Het |
Rcor3 |
T |
A |
1: 191,807,900 (GRCm39) |
E20V |
probably damaging |
Het |
Rere |
A |
G |
4: 150,702,893 (GRCm39) |
D1449G |
probably damaging |
Het |
Ric1 |
T |
C |
19: 29,555,014 (GRCm39) |
V376A |
probably benign |
Het |
Rims1 |
G |
A |
1: 22,467,764 (GRCm39) |
T873I |
probably benign |
Het |
Rras2 |
T |
C |
7: 113,659,632 (GRCm39) |
D44G |
probably damaging |
Het |
Sbk2 |
C |
T |
7: 4,960,716 (GRCm39) |
|
probably benign |
Het |
Slit1 |
A |
G |
19: 41,717,545 (GRCm39) |
I73T |
probably damaging |
Het |
Spice1 |
T |
A |
16: 44,205,073 (GRCm39) |
M793K |
probably benign |
Het |
Suco |
T |
C |
1: 161,691,480 (GRCm39) |
|
probably null |
Het |
Tarbp1 |
A |
T |
8: 127,174,290 (GRCm39) |
W839R |
probably damaging |
Het |
Trpc4 |
T |
A |
3: 54,173,495 (GRCm39) |
|
probably benign |
Het |
Tubgcp5 |
T |
C |
7: 55,464,766 (GRCm39) |
V549A |
possibly damaging |
Het |
Ubap2 |
T |
A |
4: 41,226,308 (GRCm39) |
T182S |
probably benign |
Het |
Wrn |
A |
C |
8: 33,800,730 (GRCm39) |
|
probably benign |
Het |
Zc3h15 |
A |
G |
2: 83,492,536 (GRCm39) |
Y337C |
probably damaging |
Het |
Zfp292 |
T |
A |
4: 34,807,855 (GRCm39) |
I1730F |
possibly damaging |
Het |
Zfp609 |
A |
G |
9: 65,611,307 (GRCm39) |
V552A |
probably benign |
Het |
|
Other mutations in Prl6a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01124:Prl6a1
|
APN |
13 |
27,500,347 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL01922:Prl6a1
|
APN |
13 |
27,499,343 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL02059:Prl6a1
|
APN |
13 |
27,499,348 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03170:Prl6a1
|
APN |
13 |
27,499,406 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0027:Prl6a1
|
UTSW |
13 |
27,502,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R0027:Prl6a1
|
UTSW |
13 |
27,502,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R0049:Prl6a1
|
UTSW |
13 |
27,501,980 (GRCm39) |
missense |
probably damaging |
0.99 |
R0606:Prl6a1
|
UTSW |
13 |
27,498,177 (GRCm39) |
intron |
probably benign |
|
R0944:Prl6a1
|
UTSW |
13 |
27,502,149 (GRCm39) |
splice site |
probably benign |
|
R1518:Prl6a1
|
UTSW |
13 |
27,502,911 (GRCm39) |
missense |
probably null |
0.19 |
R1518:Prl6a1
|
UTSW |
13 |
27,502,910 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1566:Prl6a1
|
UTSW |
13 |
27,499,410 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1621:Prl6a1
|
UTSW |
13 |
27,501,993 (GRCm39) |
missense |
probably benign |
0.01 |
R2011:Prl6a1
|
UTSW |
13 |
27,499,352 (GRCm39) |
missense |
probably benign |
0.00 |
R2058:Prl6a1
|
UTSW |
13 |
27,503,081 (GRCm39) |
missense |
probably benign |
0.05 |
R2937:Prl6a1
|
UTSW |
13 |
27,499,303 (GRCm39) |
missense |
probably damaging |
0.98 |
R3079:Prl6a1
|
UTSW |
13 |
27,502,983 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4685:Prl6a1
|
UTSW |
13 |
27,500,307 (GRCm39) |
missense |
probably benign |
0.00 |
R4856:Prl6a1
|
UTSW |
13 |
27,502,983 (GRCm39) |
missense |
probably damaging |
0.98 |
R4886:Prl6a1
|
UTSW |
13 |
27,502,983 (GRCm39) |
missense |
probably damaging |
0.98 |
R5495:Prl6a1
|
UTSW |
13 |
27,496,654 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5923:Prl6a1
|
UTSW |
13 |
27,500,346 (GRCm39) |
missense |
probably benign |
0.08 |
R6772:Prl6a1
|
UTSW |
13 |
27,503,031 (GRCm39) |
missense |
probably damaging |
1.00 |
R7411:Prl6a1
|
UTSW |
13 |
27,502,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R7501:Prl6a1
|
UTSW |
13 |
27,500,282 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7549:Prl6a1
|
UTSW |
13 |
27,502,954 (GRCm39) |
missense |
probably damaging |
0.96 |
R7563:Prl6a1
|
UTSW |
13 |
27,498,221 (GRCm39) |
critical splice donor site |
probably null |
|
R7773:Prl6a1
|
UTSW |
13 |
27,502,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R8024:Prl6a1
|
UTSW |
13 |
27,502,678 (GRCm39) |
intron |
probably benign |
|
R8994:Prl6a1
|
UTSW |
13 |
27,499,417 (GRCm39) |
missense |
probably benign |
0.01 |
R9129:Prl6a1
|
UTSW |
13 |
27,502,064 (GRCm39) |
missense |
|
|
R9395:Prl6a1
|
UTSW |
13 |
27,499,400 (GRCm39) |
missense |
possibly damaging |
0.71 |
Z1177:Prl6a1
|
UTSW |
13 |
27,499,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-01-21 |