Incidental Mutation 'IGL01814:Scml4'
| ID |
154360 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Scml4
|
| Ensembl Gene |
ENSMUSG00000044770 |
| Gene Name |
Scm polycomb group protein like 4 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
IGL01814
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
42736366-42836776 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 42811041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 194
(R194C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063063]
[ENSMUST00000105494]
[ENSMUST00000105495]
[ENSMUST00000125576]
[ENSMUST00000157071]
|
| AlphaFold |
Q80VG1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063063
AA Change: R194C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000053157
Gene: ENSMUSG00000044770
AA Change: R194C
| Domain | Start | End | E-Value | Type |
|---|
|
AT_hook
|
8 |
20 |
7.58e-1 |
SMART |
|
Pfam:DUF3588
|
95 |
205 |
9.5e-35 |
PFAM |
|
low complexity region
|
288 |
306 |
N/A |
INTRINSIC |
|
SAM
|
337 |
406 |
1.65e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105494
AA Change: R136C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000101133
Gene: ENSMUSG00000044770
AA Change: R136C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3588
|
34 |
150 |
1e-42 |
PFAM |
|
low complexity region
|
230 |
248 |
N/A |
INTRINSIC |
|
SAM
|
279 |
348 |
1.65e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105495
|
| SMART Domains |
Protein: ENSMUSP00000101134
Gene: ENSMUSG00000044770
| Domain | Start | End | E-Value | Type |
|---|
|
AT_hook
|
8 |
20 |
7.58e-1 |
SMART |
|
Pfam:DUF3588
|
92 |
172 |
1.9e-26 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125576
AA Change: R194C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000118910
Gene: ENSMUSG00000044770
AA Change: R194C
| Domain | Start | End | E-Value | Type |
|---|
|
AT_hook
|
8 |
20 |
7.58e-1 |
SMART |
|
Pfam:DUF3588
|
92 |
208 |
3.6e-43 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127675
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130511
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136841
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153091
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000157071
|
| SMART Domains |
Protein: ENSMUSP00000122585
Gene: ENSMUSG00000044770
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3588
|
41 |
95 |
7.7e-23 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l2 |
T |
A |
18: 67,538,544 (GRCm39) |
N738I |
probably benign |
Het |
| B3galnt2 |
A |
G |
13: 14,161,938 (GRCm39) |
S1G |
probably damaging |
Het |
| Btbd9 |
T |
C |
17: 30,518,509 (GRCm39) |
I484V |
probably benign |
Het |
| Chd6 |
T |
C |
2: 160,901,849 (GRCm39) |
K8R |
probably benign |
Het |
| Csmd1 |
A |
C |
8: 16,551,389 (GRCm39) |
L279R |
probably damaging |
Het |
| Dmxl1 |
G |
T |
18: 49,997,935 (GRCm39) |
V708F |
probably damaging |
Het |
| Dnajc24 |
C |
T |
2: 105,811,429 (GRCm39) |
G49R |
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,301,237 (GRCm39) |
M198T |
probably benign |
Het |
| Dtx3l |
T |
A |
16: 35,751,872 (GRCm39) |
D683V |
probably benign |
Het |
| Duox1 |
A |
G |
2: 122,176,753 (GRCm39) |
T1425A |
probably damaging |
Het |
| Enpp3 |
G |
A |
10: 24,667,923 (GRCm39) |
P510S |
possibly damaging |
Het |
| Iars2 |
G |
T |
1: 185,034,972 (GRCm39) |
Y590* |
probably null |
Het |
| Itgb7 |
T |
C |
15: 102,131,852 (GRCm39) |
R244G |
possibly damaging |
Het |
| Itpr2 |
T |
A |
6: 146,134,044 (GRCm39) |
R1820S |
probably benign |
Het |
| Matn3 |
T |
C |
12: 9,002,091 (GRCm39) |
V101A |
probably damaging |
Het |
| Neurod1 |
C |
T |
2: 79,285,003 (GRCm39) |
V127M |
probably damaging |
Het |
| Or56a5 |
T |
C |
7: 104,792,811 (GRCm39) |
I236V |
possibly damaging |
Het |
| Or9i1b |
T |
A |
19: 13,896,892 (GRCm39) |
C169* |
probably null |
Het |
| Pde10a |
A |
G |
17: 9,147,939 (GRCm39) |
M1V |
probably null |
Het |
| Pdk4 |
A |
G |
6: 5,491,828 (GRCm39) |
|
probably null |
Het |
| Ptchd4 |
A |
T |
17: 42,814,177 (GRCm39) |
I693F |
possibly damaging |
Het |
| Slc24a4 |
T |
C |
12: 102,220,877 (GRCm39) |
V436A |
probably benign |
Het |
| Slc9a3 |
C |
A |
13: 74,314,091 (GRCm39) |
R800S |
probably damaging |
Het |
| Smchd1 |
C |
A |
17: 71,685,182 (GRCm39) |
M1415I |
probably benign |
Het |
| Syndig1 |
T |
A |
2: 149,741,690 (GRCm39) |
I92N |
probably damaging |
Het |
| Tchhl1 |
T |
C |
3: 93,377,656 (GRCm39) |
V120A |
possibly damaging |
Het |
| Thumpd3 |
C |
T |
6: 113,040,112 (GRCm39) |
T332I |
possibly damaging |
Het |
| Tmem101 |
G |
A |
11: 102,044,284 (GRCm39) |
T201M |
possibly damaging |
Het |
| Trip11 |
T |
C |
12: 101,850,747 (GRCm39) |
T1106A |
probably damaging |
Het |
| Ttc41 |
C |
T |
10: 86,566,890 (GRCm39) |
R519C |
probably damaging |
Het |
| Xirp1 |
T |
A |
9: 119,846,985 (GRCm39) |
M633L |
probably damaging |
Het |
| Zfp938 |
A |
T |
10: 82,062,052 (GRCm39) |
D189E |
probably benign |
Het |
|
| Other mutations in Scml4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01754:Scml4
|
APN |
10 |
42,833,746 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0105:Scml4
|
UTSW |
10 |
42,806,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0740:Scml4
|
UTSW |
10 |
42,806,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1885:Scml4
|
UTSW |
10 |
42,788,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1886:Scml4
|
UTSW |
10 |
42,788,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1887:Scml4
|
UTSW |
10 |
42,788,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1959:Scml4
|
UTSW |
10 |
42,832,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3410:Scml4
|
UTSW |
10 |
42,833,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3622:Scml4
|
UTSW |
10 |
42,806,607 (GRCm39) |
unclassified |
probably benign |
|
|
R4774:Scml4
|
UTSW |
10 |
42,833,743 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5703:Scml4
|
UTSW |
10 |
42,741,566 (GRCm39) |
intron |
probably benign |
|
|
R6577:Scml4
|
UTSW |
10 |
42,823,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6722:Scml4
|
UTSW |
10 |
42,736,728 (GRCm39) |
intron |
probably benign |
|
|
R8084:Scml4
|
UTSW |
10 |
42,806,602 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8252:Scml4
|
UTSW |
10 |
42,800,100 (GRCm39) |
missense |
noncoding transcript |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation