Incidental Mutation 'R6138:Plagl1'
| ID |
488452 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plagl1
|
| Ensembl Gene |
ENSMUSG00000019817 |
| Gene Name |
pleiomorphic adenoma gene-like 1 |
| Synonyms |
Zac1 |
| MMRRC Submission |
044285-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.408)
|
| Stock # |
R6138 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
12966576-13007438 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 13003490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 253
(G253R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121325]
[ENSMUST00000121646]
[ENSMUST00000121766]
[ENSMUST00000130313]
[ENSMUST00000143582]
[ENSMUST00000193426]
[ENSMUST00000145103]
|
| AlphaFold |
Q9JLQ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121325
AA Change: G253R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112889
Gene: ENSMUSG00000019817
AA Change: G253R
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
4 |
26 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
32 |
56 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
62 |
84 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
91 |
113 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
120 |
142 |
6.57e0 |
SMART |
|
ZnF_C2H2
|
156 |
178 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
184 |
207 |
1.25e-1 |
SMART |
|
low complexity region
|
270 |
385 |
N/A |
INTRINSIC |
|
coiled coil region
|
640 |
657 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121646
AA Change: G253R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112847
Gene: ENSMUSG00000019817
AA Change: G253R
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
4 |
26 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
32 |
56 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
62 |
84 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
91 |
113 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
120 |
142 |
6.57e0 |
SMART |
|
ZnF_C2H2
|
156 |
178 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
184 |
207 |
1.25e-1 |
SMART |
|
low complexity region
|
270 |
385 |
N/A |
INTRINSIC |
|
coiled coil region
|
640 |
657 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121766
AA Change: G253R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113710
Gene: ENSMUSG00000019817
AA Change: G253R
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
4 |
26 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
32 |
56 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
62 |
84 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
91 |
113 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
120 |
142 |
6.57e0 |
SMART |
|
ZnF_C2H2
|
156 |
178 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
184 |
207 |
1.25e-1 |
SMART |
|
low complexity region
|
270 |
385 |
N/A |
INTRINSIC |
|
coiled coil region
|
640 |
657 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123135
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124252
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126880
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130313
|
| SMART Domains |
Protein: ENSMUSP00000117321
Gene: ENSMUSG00000019817
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
4 |
26 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
32 |
56 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
62 |
84 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
91 |
113 |
2.71e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141068
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135261
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135095
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143582
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193426
|
| SMART Domains |
Protein: ENSMUSP00000141514
Gene: ENSMUSG00000019817
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
4 |
26 |
1e-4 |
SMART |
|
ZnF_C2H2
|
32 |
56 |
3.2e-6 |
SMART |
|
ZnF_C2H2
|
62 |
84 |
1.3e-5 |
SMART |
|
ZnF_C2H2
|
91 |
113 |
1.1e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145103
|
| Meta Mutation Damage Score |
0.1453 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (31/31) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a C2H2 zinc finger protein that functions as a suppressor of cell growth. This gene is often deleted or methylated and silenced in cancer cells. In addition, overexpression of this gene during fetal development is thought to be the causal factor for transient neonatal diabetes mellitus (TNDM). Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding two different protein isoforms. The P1 downstream promoter of this gene is imprinted, with preferential expression from the paternal allele in many tissues. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous null mice exhibit significantly reduced birth weights. Heterozygous mice with a paternal copy of the null allele show reduced fetal and birth weights, altered ossification, dyspnea and background-dependent neonatal lethality, as well as wrinkled skin and curly tails with 30% penetrance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| 6820408C15Rik |
T |
C |
2: 152,282,790 (GRCm39) |
V215A |
probably damaging |
Het |
| Abhd14a |
A |
T |
9: 106,321,065 (GRCm39) |
S97T |
possibly damaging |
Het |
| Adamts2 |
T |
A |
11: 50,647,533 (GRCm39) |
I302N |
probably damaging |
Het |
| Adgra2 |
G |
A |
8: 27,604,457 (GRCm39) |
A511T |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,117,924 (GRCm39) |
|
probably null |
Het |
| Ccr6 |
G |
A |
17: 8,475,214 (GRCm39) |
V140I |
probably damaging |
Het |
| Dlat |
A |
T |
9: 50,556,417 (GRCm39) |
|
probably null |
Het |
| Gcg |
A |
G |
2: 62,306,148 (GRCm39) |
S150P |
probably damaging |
Het |
| Gk5 |
C |
T |
9: 96,058,290 (GRCm39) |
Q424* |
probably null |
Het |
| Insm2 |
T |
C |
12: 55,646,799 (GRCm39) |
I181T |
probably damaging |
Het |
| Itgae |
A |
G |
11: 73,006,400 (GRCm39) |
E356G |
possibly damaging |
Het |
| Kitl |
G |
A |
10: 99,912,768 (GRCm39) |
|
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Myo3b |
T |
C |
2: 70,069,243 (GRCm39) |
V494A |
possibly damaging |
Het |
| Myo7a |
C |
T |
7: 97,714,997 (GRCm39) |
W1558* |
probably null |
Het |
| Or1ak2 |
G |
A |
2: 36,827,241 (GRCm39) |
V37I |
probably benign |
Het |
| Or5p81 |
T |
A |
7: 108,267,412 (GRCm39) |
V263E |
probably damaging |
Het |
| Pgk1 |
C |
A |
X: 105,238,098 (GRCm39) |
L85I |
possibly damaging |
Het |
| Pik3c2b |
G |
A |
1: 133,002,365 (GRCm39) |
|
probably null |
Het |
| Ppp4r1 |
G |
A |
17: 66,121,343 (GRCm39) |
V268I |
possibly damaging |
Het |
| Pramel27 |
T |
G |
4: 143,578,155 (GRCm39) |
H87Q |
possibly damaging |
Het |
| Satl1 |
T |
C |
X: 111,315,613 (GRCm39) |
T281A |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Spmap2 |
A |
G |
10: 79,420,589 (GRCm39) |
S159P |
probably damaging |
Het |
| Synrg |
A |
G |
11: 83,915,126 (GRCm39) |
E1044G |
probably damaging |
Het |
| Tbx5 |
T |
C |
5: 120,021,211 (GRCm39) |
S406P |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Vmn2r79 |
T |
A |
7: 86,653,319 (GRCm39) |
V528D |
possibly damaging |
Het |
|
| Other mutations in Plagl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00516:Plagl1
|
APN |
10 |
13,003,616 (GRCm39) |
unclassified |
probably benign |
|
|
R0554:Plagl1
|
UTSW |
10 |
13,002,926 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0842:Plagl1
|
UTSW |
10 |
13,004,298 (GRCm39) |
unclassified |
probably benign |
|
|
R0967:Plagl1
|
UTSW |
10 |
13,003,986 (GRCm39) |
unclassified |
probably benign |
|
|
R1610:Plagl1
|
UTSW |
10 |
13,004,706 (GRCm39) |
unclassified |
probably benign |
|
|
R2002:Plagl1
|
UTSW |
10 |
13,004,402 (GRCm39) |
unclassified |
probably benign |
|
|
R2107:Plagl1
|
UTSW |
10 |
13,004,391 (GRCm39) |
unclassified |
probably benign |
|
|
R2108:Plagl1
|
UTSW |
10 |
13,004,391 (GRCm39) |
unclassified |
probably benign |
|
|
R2191:Plagl1
|
UTSW |
10 |
13,004,685 (GRCm39) |
unclassified |
probably benign |
|
|
R4061:Plagl1
|
UTSW |
10 |
13,004,515 (GRCm39) |
unclassified |
probably benign |
|
|
R4062:Plagl1
|
UTSW |
10 |
13,004,515 (GRCm39) |
unclassified |
probably benign |
|
|
R4631:Plagl1
|
UTSW |
10 |
13,003,743 (GRCm39) |
unclassified |
probably benign |
|
|
R4924:Plagl1
|
UTSW |
10 |
13,003,301 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5071:Plagl1
|
UTSW |
10 |
13,003,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5138:Plagl1
|
UTSW |
10 |
13,003,919 (GRCm39) |
unclassified |
probably benign |
|
|
R5893:Plagl1
|
UTSW |
10 |
13,003,938 (GRCm39) |
unclassified |
probably benign |
|
|
R5971:Plagl1
|
UTSW |
10 |
13,003,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6061:Plagl1
|
UTSW |
10 |
13,003,639 (GRCm39) |
unclassified |
probably benign |
|
|
R6170:Plagl1
|
UTSW |
10 |
13,002,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6625:Plagl1
|
UTSW |
10 |
13,003,806 (GRCm39) |
unclassified |
probably benign |
|
|
R6970:Plagl1
|
UTSW |
10 |
13,000,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7035:Plagl1
|
UTSW |
10 |
13,003,977 (GRCm39) |
unclassified |
probably benign |
|
|
R8265:Plagl1
|
UTSW |
10 |
13,004,625 (GRCm39) |
missense |
unknown |
|
|
R9145:Plagl1
|
UTSW |
10 |
13,003,872 (GRCm39) |
missense |
unknown |
|
|
R9668:Plagl1
|
UTSW |
10 |
13,004,466 (GRCm39) |
missense |
unknown |
|
|
R9676:Plagl1
|
UTSW |
10 |
13,003,955 (GRCm39) |
missense |
unknown |
|
|
U15987:Plagl1
|
UTSW |
10 |
13,003,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Plagl1
|
UTSW |
10 |
13,004,460 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCACACAGGATGCAAGGAC -3'
(R):5'- AGGCTGCATTGGCTCCAAAG -3'
Sequencing Primer
(F):5'- CTGTGTCAGTTCTGTGCCCAG -3'
(R):5'- AAAGGCTGCATCGGCTC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation