Incidental Mutation 'IGL02978:Shroom4'
| ID |
406459 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Shroom4
|
| Ensembl Gene |
ENSMUSG00000068270 |
| Gene Name |
shroom family member 4 |
| Synonyms |
D430043L16Rik, Shrm4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02978
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
6312012-6549508 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 6497244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 801
(D801E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089520]
[ENSMUST00000103005]
[ENSMUST00000143641]
|
| AlphaFold |
Q1W617 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089520
AA Change: D685E
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000086949
Gene: ENSMUSG00000068270
AA Change: D685E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
72 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
128 |
N/A |
INTRINSIC |
|
low complexity region
|
441 |
454 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
519 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
552 |
N/A |
INTRINSIC |
|
Pfam:ASD2
|
912 |
1352 |
8.9e-91 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103005
AA Change: D801E
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000100070
Gene: ENSMUSG00000068270
AA Change: D801E
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
19 |
92 |
1.47e-12 |
SMART |
|
low complexity region
|
188 |
200 |
N/A |
INTRINSIC |
|
low complexity region
|
234 |
244 |
N/A |
INTRINSIC |
|
low complexity region
|
557 |
570 |
N/A |
INTRINSIC |
|
low complexity region
|
618 |
635 |
N/A |
INTRINSIC |
|
low complexity region
|
657 |
668 |
N/A |
INTRINSIC |
|
low complexity region
|
1091 |
1098 |
N/A |
INTRINSIC |
|
coiled coil region
|
1107 |
1145 |
N/A |
INTRINSIC |
|
Pfam:ASD2
|
1217 |
1468 |
9.4e-99 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143641
|
| SMART Domains |
Protein: ENSMUSP00000131806
Gene: ENSMUSG00000068270
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1qava_
|
1 |
40 |
6e-6 |
SMART |
|
Blast:PDZ
|
1 |
41 |
8e-23 |
BLAST |
|
PDB:2EDP|A
|
1 |
42 |
8e-23 |
PDB |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a C-terminal ASD2 motif. The encoded protein may play a role in cytoskeletal architecture. Mutations in this gene have been linked to Stocco dos Santos X-linked mental retardation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp6 |
T |
A |
3: 97,073,875 (GRCm39) |
F160I |
probably benign |
Het |
| Agt |
T |
C |
8: 125,284,502 (GRCm39) |
D412G |
possibly damaging |
Het |
| Als2 |
C |
A |
1: 59,254,324 (GRCm39) |
Q344H |
probably benign |
Het |
| Ate1 |
C |
A |
7: 129,996,470 (GRCm39) |
|
probably benign |
Het |
| B3gnt5 |
A |
G |
16: 19,588,744 (GRCm39) |
H321R |
probably damaging |
Het |
| Cog2 |
C |
A |
8: 125,277,075 (GRCm39) |
H694N |
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,855,211 (GRCm39) |
N157S |
unknown |
Het |
| Cyp3a44 |
T |
A |
5: 145,725,208 (GRCm39) |
K331I |
probably damaging |
Het |
| Dnaaf9 |
T |
C |
2: 130,569,082 (GRCm39) |
D749G |
probably damaging |
Het |
| Gal3st4 |
C |
A |
5: 138,263,931 (GRCm39) |
W351L |
probably damaging |
Het |
| H2-T22 |
A |
T |
17: 36,352,517 (GRCm39) |
L136H |
probably benign |
Het |
| Ift25 |
A |
G |
4: 107,132,471 (GRCm39) |
E86G |
probably damaging |
Het |
| Itpripl1 |
A |
T |
2: 126,982,932 (GRCm39) |
F397I |
probably damaging |
Het |
| Lama1 |
C |
T |
17: 68,093,076 (GRCm39) |
Q1705* |
probably null |
Het |
| Mfge8 |
A |
T |
7: 78,791,458 (GRCm39) |
L248Q |
probably damaging |
Het |
| Mfge8 |
T |
C |
7: 78,791,476 (GRCm39) |
E279G |
possibly damaging |
Het |
| Obox3 |
T |
C |
7: 15,360,178 (GRCm39) |
T164A |
probably benign |
Het |
| Plat |
T |
C |
8: 23,266,835 (GRCm39) |
C276R |
probably damaging |
Het |
| Radil |
G |
A |
5: 142,480,674 (GRCm39) |
R594C |
probably benign |
Het |
| Thsd4 |
C |
T |
9: 59,964,129 (GRCm39) |
|
probably null |
Het |
| Vmn2r77 |
C |
T |
7: 86,460,555 (GRCm39) |
T627I |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 19,168,298 (GRCm39) |
T851S |
probably benign |
Het |
|
| Other mutations in Shroom4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01138:Shroom4
|
APN |
X |
6,497,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02501:Shroom4
|
APN |
X |
6,495,998 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
FR4548:Shroom4
|
UTSW |
X |
6,536,128 (GRCm39) |
small deletion |
probably benign |
|
|
FR4589:Shroom4
|
UTSW |
X |
6,536,115 (GRCm39) |
small deletion |
probably benign |
|
|
FR4976:Shroom4
|
UTSW |
X |
6,536,128 (GRCm39) |
small deletion |
probably benign |
|
|
R3821:Shroom4
|
UTSW |
X |
6,536,276 (GRCm39) |
nonsense |
probably null |
|
|
R4812:Shroom4
|
UTSW |
X |
6,536,180 (GRCm39) |
missense |
probably benign |
|
|
R5384:Shroom4
|
UTSW |
X |
6,497,523 (GRCm39) |
nonsense |
probably null |
|
|
R5385:Shroom4
|
UTSW |
X |
6,497,523 (GRCm39) |
nonsense |
probably null |
|
|
R5386:Shroom4
|
UTSW |
X |
6,497,523 (GRCm39) |
nonsense |
probably null |
|
|
R9416:Shroom4
|
UTSW |
X |
6,536,131 (GRCm39) |
small deletion |
probably benign |
|
|
X0023:Shroom4
|
UTSW |
X |
6,541,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Shroom4
|
UTSW |
X |
6,496,556 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Posted On |
2016-08-02 |
Incidental Mutation