Incidental Mutation 'IGL00850:Prr29'
| ID |
8434 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prr29
|
| Ensembl Gene |
ENSMUSG00000009210 |
| Gene Name |
proline rich 29 |
| Synonyms |
2310007L24Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00850
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
106256298-106268384 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 106266033 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 32
(T32K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139960
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001055]
[ENSMUST00000009354]
[ENSMUST00000106813]
[ENSMUST00000106816]
[ENSMUST00000185986]
[ENSMUST00000188561]
[ENSMUST00000190268]
[ENSMUST00000190795]
|
| AlphaFold |
B1ARI9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001055
|
| SMART Domains |
Protein: ENSMUSP00000001055
Gene: ENSMUSG00000001029
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:ICAM_N
|
22 |
114 |
8.6e-45 |
PFAM |
|
Blast:IG_like
|
119 |
215 |
2e-36 |
BLAST |
|
transmembrane domain
|
224 |
246 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009354
|
| SMART Domains |
Protein: ENSMUSP00000009354
Gene: ENSMUSG00000009210
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4587
|
1 |
60 |
9.4e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106813
|
| SMART Domains |
Protein: ENSMUSP00000102426
Gene: ENSMUSG00000001029
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:ICAM_N
|
22 |
114 |
2.8e-45 |
PFAM |
|
Blast:IG_like
|
119 |
161 |
9e-11 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106816
AA Change: T32K
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102429
Gene: ENSMUSG00000009210
AA Change: T32K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4587
|
39 |
110 |
1.5e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173795
|
| SMART Domains |
Protein: ENSMUSP00000133315
Gene: ENSMUSG00000001029
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ICAM_N
|
1 |
50 |
2.2e-21 |
PFAM |
|
Blast:IG_like
|
55 |
151 |
2e-37 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000185986
AA Change: T25K
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140365
Gene: ENSMUSG00000009210
AA Change: T25K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4587
|
32 |
103 |
1.5e-22 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000188561
AA Change: T32K
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140194
Gene: ENSMUSG00000009210
AA Change: T32K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4587
|
39 |
101 |
1.5e-18 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190268
AA Change: T32K
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139960
Gene: ENSMUSG00000009210
AA Change: T32K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4587
|
39 |
110 |
2.8e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190795
|
| SMART Domains |
Protein: ENSMUSP00000140541
Gene: ENSMUSG00000009210
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4587
|
1 |
60 |
9.4e-20 |
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 |
|---|
| Cand1 |
C |
A |
10: 119,047,040 (GRCm39) |
V817L |
probably benign |
Het |
| Cdc16 |
T |
G |
8: 13,817,575 (GRCm39) |
Y295* |
probably null |
Het |
| Cdk12 |
T |
A |
11: 98,113,491 (GRCm39) |
N758K |
unknown |
Het |
| Cep295 |
A |
G |
9: 15,234,148 (GRCm39) |
L2216S |
probably benign |
Het |
| Chpf2 |
A |
G |
5: 24,797,259 (GRCm39) |
E735G |
probably damaging |
Het |
| Chrdl2 |
A |
G |
7: 99,683,848 (GRCm39) |
T432A |
probably damaging |
Het |
| Cyp4a12b |
T |
A |
4: 115,295,246 (GRCm39) |
|
probably null |
Het |
| D130043K22Rik |
T |
G |
13: 25,051,157 (GRCm39) |
D464E |
probably damaging |
Het |
| Dst |
G |
T |
1: 34,345,705 (GRCm39) |
A7622S |
probably damaging |
Het |
| Fdx1 |
A |
T |
9: 51,859,949 (GRCm39) |
I127N |
probably damaging |
Het |
| Fem1a |
A |
G |
17: 56,565,355 (GRCm39) |
I483V |
possibly damaging |
Het |
| Gcc2 |
C |
A |
10: 58,094,070 (GRCm39) |
D51E |
probably benign |
Het |
| Glrb |
A |
G |
3: 80,769,088 (GRCm39) |
S178P |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,583,379 (GRCm39) |
Q161R |
probably damaging |
Het |
| Lrrc45 |
T |
C |
11: 120,611,436 (GRCm39) |
|
probably benign |
Het |
| Myh3 |
T |
C |
11: 66,981,681 (GRCm39) |
Y757H |
probably damaging |
Het |
| Myo1h |
A |
C |
5: 114,453,132 (GRCm39) |
|
probably benign |
Het |
| Nudt13 |
T |
A |
14: 20,356,418 (GRCm39) |
S114R |
probably damaging |
Het |
| Omg |
T |
C |
11: 79,393,540 (GRCm39) |
N106S |
possibly damaging |
Het |
| Pbrm1 |
T |
C |
14: 30,809,576 (GRCm39) |
V1163A |
probably damaging |
Het |
| Pi4k2b |
T |
A |
5: 52,918,292 (GRCm39) |
Y350* |
probably null |
Het |
| Psd4 |
C |
T |
2: 24,284,298 (GRCm39) |
A54V |
probably benign |
Het |
| Scd3 |
A |
G |
19: 44,224,247 (GRCm39) |
H160R |
probably damaging |
Het |
| Shroom3 |
T |
C |
5: 93,098,924 (GRCm39) |
L1387P |
probably damaging |
Het |
| Stk35 |
A |
G |
2: 129,643,912 (GRCm39) |
T299A |
probably damaging |
Het |
| Thsd7b |
G |
A |
1: 130,092,814 (GRCm39) |
S1238N |
probably benign |
Het |
| Utp11 |
T |
C |
4: 124,576,250 (GRCm39) |
K131R |
probably benign |
Het |
| Vps50 |
C |
T |
6: 3,532,177 (GRCm39) |
Q227* |
probably null |
Het |
| Zan |
T |
C |
5: 137,462,375 (GRCm39) |
T935A |
unknown |
Het |
|
| Other mutations in Prr29 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
Partisans
|
UTSW |
11 |
106,267,085 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0027:Prr29
|
UTSW |
11 |
106,267,102 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0193:Prr29
|
UTSW |
11 |
106,267,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1707:Prr29
|
UTSW |
11 |
106,267,509 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1861:Prr29
|
UTSW |
11 |
106,266,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3125:Prr29
|
UTSW |
11 |
106,265,711 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4664:Prr29
|
UTSW |
11 |
106,267,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4998:Prr29
|
UTSW |
11 |
106,267,779 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6244:Prr29
|
UTSW |
11 |
106,267,458 (GRCm39) |
splice site |
probably null |
|
|
R6492:Prr29
|
UTSW |
11 |
106,266,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7069:Prr29
|
UTSW |
11 |
106,267,085 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7254:Prr29
|
UTSW |
11 |
106,265,684 (GRCm39) |
start codon destroyed |
probably damaging |
0.97 |
|
R7611:Prr29
|
UTSW |
11 |
106,267,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8023:Prr29
|
UTSW |
11 |
106,267,099 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8039:Prr29
|
UTSW |
11 |
106,267,738 (GRCm39) |
missense |
probably benign |
0.10 |
|
Z1176:Prr29
|
UTSW |
11 |
106,267,767 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
| Posted On |
2012-12-06 |
Incidental Mutation