Incidental Mutation 'IGL03257:Prl8a1'
| ID |
414696 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prl8a1
|
| Ensembl Gene |
ENSMUSG00000019756 |
| Gene Name |
prolactin family 8, subfamily a, member 1 |
| Synonyms |
Plpcd, Prlpc4, PLP-Cd, 3830403L08Rik, 1600017L04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
IGL03257
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
27757905-27766154 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27759656 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 127
(I127T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006664
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006664]
[ENSMUST00000095926]
|
| AlphaFold |
Q9DAV8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006664
AA Change: I127T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000006664
Gene: ENSMUSG00000019756
AA Change: I127T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hormone_1
|
16 |
240 |
7.2e-60 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095926
AA Change: I127T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000093616
Gene: ENSMUSG00000019756
AA Change: I127T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hormone_1
|
16 |
193 |
1e-39 |
PFAM |
|
| 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 |
|---|
| Abcc4 |
C |
A |
14: 118,852,623 (GRCm39) |
V489L |
probably benign |
Het |
| Alpk2 |
C |
A |
18: 65,482,945 (GRCm39) |
E354D |
probably damaging |
Het |
| Ank1 |
A |
T |
8: 23,612,914 (GRCm39) |
K1060M |
probably damaging |
Het |
| Cand2 |
A |
G |
6: 115,776,944 (GRCm39) |
N1111D |
possibly damaging |
Het |
| Ccny |
A |
T |
18: 9,386,747 (GRCm39) |
S73T |
possibly damaging |
Het |
| Clps |
T |
C |
17: 28,779,634 (GRCm39) |
|
probably benign |
Het |
| Cnga1 |
C |
A |
5: 72,768,205 (GRCm39) |
W160C |
probably damaging |
Het |
| Col6a5 |
T |
C |
9: 105,759,072 (GRCm39) |
S2045G |
possibly damaging |
Het |
| Dennd4a |
T |
G |
9: 64,779,156 (GRCm39) |
N546K |
possibly damaging |
Het |
| Efcab5 |
A |
T |
11: 77,079,596 (GRCm39) |
M50K |
probably damaging |
Het |
| Fntb |
A |
G |
12: 76,934,805 (GRCm39) |
H228R |
probably damaging |
Het |
| Gm4787 |
C |
T |
12: 81,424,826 (GRCm39) |
C444Y |
probably damaging |
Het |
| Gpm6a |
A |
G |
8: 55,490,507 (GRCm39) |
Y61C |
probably damaging |
Het |
| Grm5 |
T |
A |
7: 87,252,106 (GRCm39) |
S119T |
possibly damaging |
Het |
| Igf1r |
T |
A |
7: 67,864,688 (GRCm39) |
I1162N |
probably damaging |
Het |
| Irx5 |
A |
G |
8: 93,087,258 (GRCm39) |
T397A |
probably benign |
Het |
| Kdm1b |
C |
T |
13: 47,202,742 (GRCm39) |
T59M |
probably damaging |
Het |
| Lrrc9 |
T |
A |
12: 72,496,542 (GRCm39) |
S57T |
probably benign |
Het |
| Nup210l |
A |
T |
3: 90,087,455 (GRCm39) |
|
probably null |
Het |
| Or5p52 |
T |
C |
7: 107,501,963 (GRCm39) |
I13T |
probably benign |
Het |
| Or8k27 |
A |
T |
2: 86,276,234 (GRCm39) |
F31I |
probably damaging |
Het |
| Psme1 |
T |
C |
14: 55,818,086 (GRCm39) |
I142T |
probably damaging |
Het |
| Ptbp3 |
A |
T |
4: 59,493,370 (GRCm39) |
|
probably benign |
Het |
| Rnf20 |
T |
A |
4: 49,645,687 (GRCm39) |
N321K |
probably benign |
Het |
| Ttc23 |
T |
C |
7: 67,361,126 (GRCm39) |
S340P |
probably damaging |
Het |
| Txnrd1 |
A |
T |
10: 82,721,105 (GRCm39) |
K393I |
probably benign |
Het |
| Zfp365 |
A |
T |
10: 67,724,868 (GRCm39) |
F340Y |
possibly damaging |
Het |
| Zfp451 |
C |
A |
1: 33,816,129 (GRCm39) |
R607L |
possibly damaging |
Het |
| Zfp618 |
A |
G |
4: 63,050,908 (GRCm39) |
Y563C |
probably damaging |
Het |
|
| Other mutations in Prl8a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02259:Prl8a1
|
APN |
13 |
27,766,089 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02369:Prl8a1
|
APN |
13 |
27,760,924 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02837:Prl8a1
|
UTSW |
13 |
27,759,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0838:Prl8a1
|
UTSW |
13 |
27,758,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1480:Prl8a1
|
UTSW |
13 |
27,758,055 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1973:Prl8a1
|
UTSW |
13 |
27,760,917 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2352:Prl8a1
|
UTSW |
13 |
27,759,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2396:Prl8a1
|
UTSW |
13 |
27,758,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3732:Prl8a1
|
UTSW |
13 |
27,763,716 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3874:Prl8a1
|
UTSW |
13 |
27,759,441 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4895:Prl8a1
|
UTSW |
13 |
27,759,513 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5135:Prl8a1
|
UTSW |
13 |
27,763,802 (GRCm39) |
splice site |
probably null |
|
|
R5139:Prl8a1
|
UTSW |
13 |
27,758,049 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5908:Prl8a1
|
UTSW |
13 |
27,758,040 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6232:Prl8a1
|
UTSW |
13 |
27,759,557 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6262:Prl8a1
|
UTSW |
13 |
27,758,126 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7203:Prl8a1
|
UTSW |
13 |
27,758,172 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7243:Prl8a1
|
UTSW |
13 |
27,766,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7372:Prl8a1
|
UTSW |
13 |
27,758,089 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7485:Prl8a1
|
UTSW |
13 |
27,758,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8115:Prl8a1
|
UTSW |
13 |
27,758,028 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8782:Prl8a1
|
UTSW |
13 |
27,758,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8892:Prl8a1
|
UTSW |
13 |
27,766,069 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
| Posted On |
2016-08-02 |
Incidental Mutation