Incidental Mutation 'R1621:Prl6a1'
| ID |
174676 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prl6a1
|
| Ensembl Gene |
ENSMUSG00000069259 |
| Gene Name |
prolactin family 6, subfamily a, member 1 |
| Synonyms |
PLP-B, Prlpb |
| MMRRC Submission |
039658-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R1621 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
27496610-27503235 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 27501993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 120
(T120I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089269
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091679]
[ENSMUST00000091680]
|
| AlphaFold |
O35257 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091679
AA Change: T125I
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000089268
Gene: ENSMUSG00000069259
AA Change: T125I
| 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 benign
Transcript: ENSMUST00000091680
AA Change: T120I
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000089269
Gene: ENSMUSG00000069259
AA Change: T120I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hormone_1
|
16 |
230 |
1.1e-61 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119758
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.0%
- 20x: 84.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6b |
A |
G |
5: 137,564,041 (GRCm39) |
N253S |
probably benign |
Het |
| Adamts3 |
G |
A |
5: 89,869,560 (GRCm39) |
H272Y |
probably damaging |
Het |
| Arpc5l |
T |
C |
2: 38,903,913 (GRCm39) |
|
probably null |
Het |
| Birc6 |
G |
A |
17: 74,977,245 (GRCm39) |
V4333I |
probably benign |
Het |
| Cd38 |
A |
G |
5: 44,058,866 (GRCm39) |
D160G |
probably benign |
Het |
| Cdc7 |
A |
G |
5: 107,112,920 (GRCm39) |
S13G |
probably benign |
Het |
| Chrm5 |
G |
T |
2: 112,310,182 (GRCm39) |
D311E |
probably benign |
Het |
| Ctns |
A |
G |
11: 73,079,298 (GRCm39) |
V140A |
possibly damaging |
Het |
| Ets2 |
A |
G |
16: 95,510,913 (GRCm39) |
D57G |
probably damaging |
Het |
| Fbxo36 |
T |
A |
1: 84,817,595 (GRCm39) |
M1K |
probably null |
Het |
| Fhod3 |
T |
A |
18: 25,155,924 (GRCm39) |
I514K |
probably benign |
Het |
| G3bp2 |
A |
T |
5: 92,204,137 (GRCm39) |
F350I |
probably damaging |
Het |
| Hs3st3a1 |
G |
T |
11: 64,327,049 (GRCm39) |
V53F |
probably benign |
Het |
| Ippk |
T |
C |
13: 49,615,044 (GRCm39) |
S427P |
probably benign |
Het |
| Irgm2 |
T |
C |
11: 58,111,364 (GRCm39) |
F364L |
probably benign |
Het |
| Lipn |
A |
G |
19: 34,046,113 (GRCm39) |
K29E |
probably benign |
Het |
| Map3k11 |
A |
G |
19: 5,740,834 (GRCm39) |
E187G |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 88,762,480 (GRCm39) |
M176V |
probably benign |
Het |
| Or2z9 |
A |
G |
8: 72,853,973 (GRCm39) |
Y123C |
probably damaging |
Het |
| Palm3 |
G |
A |
8: 84,756,651 (GRCm39) |
S721N |
possibly damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,935,873 (GRCm39) |
I1088V |
probably benign |
Het |
| Pmfbp1 |
A |
G |
8: 110,226,170 (GRCm39) |
H69R |
probably benign |
Het |
| Pou2af1 |
C |
T |
9: 51,144,160 (GRCm39) |
H54Y |
probably damaging |
Het |
| Psen2 |
A |
T |
1: 180,057,030 (GRCm39) |
F331L |
probably benign |
Het |
| Pygl |
T |
C |
12: 70,237,866 (GRCm39) |
D724G |
probably damaging |
Het |
| Slc25a48 |
T |
A |
13: 56,618,283 (GRCm39) |
*307R |
probably null |
Het |
| Slc39a6 |
T |
C |
18: 24,733,946 (GRCm39) |
K248E |
probably benign |
Het |
| Slco4a1 |
A |
T |
2: 180,112,925 (GRCm39) |
T386S |
probably benign |
Het |
| Snx7 |
T |
C |
3: 117,630,805 (GRCm39) |
I185V |
possibly damaging |
Het |
| Tmem94 |
A |
G |
11: 115,676,671 (GRCm39) |
S59G |
probably benign |
Het |
| Top3a |
A |
T |
11: 60,641,433 (GRCm39) |
I392N |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,598,733 (GRCm39) |
I81T |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,589,027 (GRCm39) |
L893S |
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 |
|
IGL01688:Prl6a1
|
APN |
13 |
27,501,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACTGAAGAGCAGTGCTACCACC -3'
(R):5'- GAGTGCATACCTTGCTGAGTATCCC -3'
Sequencing Primer
(F):5'- CAGGTCCTGTATCTGCTAGATGTAAC -3'
(R):5'- GCTGAGTATCCCTCTAAGAGC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation