Incidental Mutation 'R2853:Parm1'
| ID |
252389 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Parm1
|
| Ensembl Gene |
ENSMUSG00000034981 |
| Gene Name |
prostate androgen-regulated mucin-like protein 1 |
| Synonyms |
2210012L08Rik, 9130213B05Rik |
| MMRRC Submission |
040446-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R2853 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
91665559-91771870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91742124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 164
(V164A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040576]
|
| AlphaFold |
Q923D3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040576
AA Change: V164A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000042844
Gene: ENSMUSG00000034981
AA Change: V164A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PARM
|
15 |
296 |
5.3e-120 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
A |
C |
16: 8,418,832 (GRCm39) |
K142T |
probably damaging |
Het |
| Als2cl |
T |
C |
9: 110,723,203 (GRCm39) |
S636P |
probably damaging |
Het |
| Angptl7 |
T |
C |
4: 148,584,736 (GRCm39) |
E4G |
probably benign |
Het |
| Aph1c |
T |
C |
9: 66,741,764 (GRCm39) |
|
probably null |
Het |
| Arhgap23 |
T |
C |
11: 97,383,420 (GRCm39) |
|
probably null |
Het |
| Arhgef4 |
A |
C |
1: 34,763,129 (GRCm39) |
D795A |
unknown |
Het |
| Atosb |
A |
G |
4: 43,036,293 (GRCm39) |
L146P |
probably benign |
Het |
| Ccdc85a |
A |
G |
11: 28,342,942 (GRCm39) |
|
probably benign |
Het |
| Chchd1 |
T |
C |
14: 20,754,288 (GRCm39) |
S67P |
probably benign |
Het |
| Cubn |
C |
T |
2: 13,435,645 (GRCm39) |
V1104I |
probably benign |
Het |
| Dennd5a |
A |
T |
7: 109,532,878 (GRCm39) |
N297K |
probably damaging |
Het |
| Dnai4 |
T |
C |
4: 102,907,355 (GRCm39) |
I644V |
possibly damaging |
Het |
| Egflam |
A |
T |
15: 7,249,182 (GRCm39) |
W879R |
probably damaging |
Het |
| Far1 |
T |
C |
7: 113,152,944 (GRCm39) |
Y351H |
possibly damaging |
Het |
| Gpr62 |
T |
C |
9: 106,341,911 (GRCm39) |
E339G |
probably benign |
Het |
| Hspd1 |
A |
T |
1: 55,120,256 (GRCm39) |
D315E |
probably damaging |
Het |
| Ids |
G |
T |
X: 69,396,776 (GRCm39) |
T329K |
probably damaging |
Het |
| Itga9 |
G |
A |
9: 118,465,604 (GRCm39) |
E153K |
probably damaging |
Het |
| Krt82 |
T |
C |
15: 101,456,870 (GRCm39) |
Y170C |
probably damaging |
Het |
| Megf10 |
T |
C |
18: 57,427,003 (GRCm39) |
I1107T |
probably damaging |
Het |
| Mre11a |
A |
G |
9: 14,737,843 (GRCm39) |
E599G |
probably benign |
Het |
| Mtm1 |
T |
G |
X: 70,345,389 (GRCm39) |
I437S |
probably damaging |
Het |
| Ncoa2 |
C |
T |
1: 13,257,113 (GRCm39) |
V129I |
probably damaging |
Het |
| Ncs1 |
T |
C |
2: 31,177,329 (GRCm39) |
F169L |
probably damaging |
Het |
| Ndst2 |
T |
C |
14: 20,779,964 (GRCm39) |
E92G |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,128,526 (GRCm39) |
Q4059R |
probably benign |
Het |
| Scgb1b20 |
A |
C |
7: 33,072,949 (GRCm39) |
K52N |
possibly damaging |
Het |
| Setbp1 |
T |
A |
18: 78,967,211 (GRCm39) |
Q171L |
probably benign |
Het |
| Sik2 |
A |
T |
9: 50,809,597 (GRCm39) |
L612Q |
probably damaging |
Het |
| Srprb |
G |
A |
9: 103,076,038 (GRCm39) |
Q800* |
probably null |
Het |
| Ss18l1 |
A |
G |
2: 179,699,914 (GRCm39) |
Y258C |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,063,386 (GRCm39) |
K1567R |
probably benign |
Het |
| Ttc6 |
T |
C |
12: 57,622,967 (GRCm39) |
F122S |
probably damaging |
Het |
| Vmn2r85 |
T |
A |
10: 130,255,035 (GRCm39) |
M550L |
probably benign |
Het |
|
| Other mutations in Parm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01363:Parm1
|
APN |
5 |
91,760,877 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0243:Parm1
|
UTSW |
5 |
91,742,153 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0601:Parm1
|
UTSW |
5 |
91,742,123 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1538:Parm1
|
UTSW |
5 |
91,742,306 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2159:Parm1
|
UTSW |
5 |
91,760,923 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2256:Parm1
|
UTSW |
5 |
91,741,980 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2859:Parm1
|
UTSW |
5 |
91,742,165 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2938:Parm1
|
UTSW |
5 |
91,742,328 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4095:Parm1
|
UTSW |
5 |
91,742,039 (GRCm39) |
missense |
probably benign |
|
|
R4222:Parm1
|
UTSW |
5 |
91,741,726 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4883:Parm1
|
UTSW |
5 |
91,741,775 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6599:Parm1
|
UTSW |
5 |
91,741,718 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6723:Parm1
|
UTSW |
5 |
91,770,856 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6799:Parm1
|
UTSW |
5 |
91,742,070 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6885:Parm1
|
UTSW |
5 |
91,742,069 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7714:Parm1
|
UTSW |
5 |
91,741,791 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7783:Parm1
|
UTSW |
5 |
91,741,724 (GRCm39) |
missense |
probably benign |
|
|
R8004:Parm1
|
UTSW |
5 |
91,742,132 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9623:Parm1
|
UTSW |
5 |
91,760,923 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9678:Parm1
|
UTSW |
5 |
91,742,144 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Z1177:Parm1
|
UTSW |
5 |
91,742,088 (GRCm39) |
missense |
probably benign |
0.41 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCCTCAACAAGCAGTGATG -3'
(R):5'- TCCACTTCTTGCATGATCAGG -3'
Sequencing Primer
(F):5'- ACAAGCAGTGATGGCCAC -3'
(R):5'- TGGTGGTCTCAGACTCACAGATC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation