Incidental Mutation 'R4743:Slain2'
| ID |
358175 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slain2
|
| Ensembl Gene |
ENSMUSG00000036087 |
| Gene Name |
SLAIN motif family, member 2 |
| Synonyms |
5033405K12Rik, 8030444K12Rik |
| MMRRC Submission |
041967-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.916)
|
| Stock # |
R4743 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
73071705-73136184 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 73114927 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 386
(L386*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116528
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000143829]
[ENSMUST00000144843]
[ENSMUST00000200785]
|
| AlphaFold |
Q8CI08 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000143829
AA Change: L386*
|
| SMART Domains |
Protein: ENSMUSP00000115871
Gene: ENSMUSG00000036087
AA Change: L386*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
4 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
106 |
N/A |
INTRINSIC |
|
Pfam:SLAIN
|
130 |
607 |
1.2e-166 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000144843
AA Change: L386*
|
| SMART Domains |
Protein: ENSMUSP00000116528
Gene: ENSMUSG00000036087
AA Change: L386*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
4 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
106 |
N/A |
INTRINSIC |
|
Pfam:SLAIN
|
130 |
581 |
4.3e-139 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145939
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200785
|
| SMART Domains |
Protein: ENSMUSP00000144204
Gene: ENSMUSG00000036087
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SLAIN
|
1 |
188 |
1.9e-77 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933407L21Rik |
A |
G |
1: 85,858,972 (GRCm39) |
|
probably benign |
Het |
| Ahcy |
T |
C |
2: 154,910,888 (GRCm39) |
N27D |
probably damaging |
Het |
| Akap9 |
T |
G |
5: 4,011,013 (GRCm39) |
L572R |
probably damaging |
Het |
| Akna |
A |
G |
4: 63,296,850 (GRCm39) |
S909P |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,744,845 (GRCm39) |
E54G |
probably benign |
Het |
| Baz2b |
A |
G |
2: 59,744,255 (GRCm39) |
S1417P |
probably benign |
Het |
| Colgalt2 |
A |
G |
1: 152,276,094 (GRCm39) |
Y69C |
probably damaging |
Het |
| Comp |
A |
G |
8: 70,828,711 (GRCm39) |
E181G |
probably damaging |
Het |
| Dcaf10 |
T |
A |
4: 45,370,409 (GRCm39) |
S326T |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,631,256 (GRCm39) |
E253G |
probably benign |
Het |
| Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
| Epha1 |
G |
T |
6: 42,349,155 (GRCm39) |
T36K |
probably benign |
Het |
| Ewsr1 |
A |
T |
11: 5,033,541 (GRCm39) |
D210E |
unknown |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,991,111 (GRCm39) |
R862* |
probably null |
Het |
| Gbp8 |
T |
C |
5: 105,178,707 (GRCm39) |
K203E |
possibly damaging |
Het |
| Gigyf2 |
T |
A |
1: 87,292,970 (GRCm39) |
L79* |
probably null |
Het |
| Gm8220 |
T |
A |
14: 44,523,152 (GRCm39) |
|
probably benign |
Het |
| Gm9755 |
A |
T |
8: 67,966,929 (GRCm39) |
|
noncoding transcript |
Het |
| Il6 |
T |
C |
5: 30,223,042 (GRCm39) |
Y120H |
probably damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,853,270 (GRCm39) |
T2A |
probably damaging |
Het |
| Mroh9 |
T |
C |
1: 162,852,061 (GRCm39) |
Y876C |
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,878,548 (GRCm39) |
Y601C |
probably damaging |
Het |
| Rabgap1l |
G |
T |
1: 160,281,353 (GRCm39) |
Q623K |
probably damaging |
Het |
| Rad9a |
G |
A |
19: 4,250,560 (GRCm39) |
R85C |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 79,080,375 (GRCm39) |
Y109C |
probably damaging |
Het |
| Rhox2c |
A |
C |
X: 36,635,351 (GRCm39) |
Q4H |
probably benign |
Het |
| Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
| Slc4a7 |
A |
G |
14: 14,796,073 (GRCm38) |
|
probably null |
Het |
| Slco1c1 |
T |
C |
6: 141,510,242 (GRCm39) |
C582R |
probably damaging |
Het |
| Sulf1 |
A |
G |
1: 12,906,517 (GRCm39) |
N520D |
probably benign |
Het |
| Tbc1d7 |
A |
G |
13: 43,323,325 (GRCm39) |
V22A |
probably damaging |
Het |
| Tmprss6 |
A |
G |
15: 78,327,910 (GRCm39) |
V612A |
probably damaging |
Het |
| Trpv2 |
A |
G |
11: 62,483,627 (GRCm39) |
E488G |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Uspl1 |
A |
G |
5: 149,146,566 (GRCm39) |
Y439C |
probably damaging |
Het |
| Vwf |
A |
G |
6: 125,661,054 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Slain2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01589:Slain2
|
APN |
5 |
73,098,789 (GRCm39) |
splice site |
probably benign |
|
|
IGL02177:Slain2
|
APN |
5 |
73,072,008 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02225:Slain2
|
APN |
5 |
73,098,733 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1630:Slain2
|
UTSW |
5 |
73,133,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1729:Slain2
|
UTSW |
5 |
73,114,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1784:Slain2
|
UTSW |
5 |
73,114,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1866:Slain2
|
UTSW |
5 |
73,114,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4839:Slain2
|
UTSW |
5 |
73,106,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4853:Slain2
|
UTSW |
5 |
73,105,941 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4914:Slain2
|
UTSW |
5 |
73,115,609 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5859:Slain2
|
UTSW |
5 |
73,105,888 (GRCm39) |
intron |
probably benign |
|
|
R6631:Slain2
|
UTSW |
5 |
73,114,748 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7251:Slain2
|
UTSW |
5 |
73,131,891 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7327:Slain2
|
UTSW |
5 |
73,132,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7528:Slain2
|
UTSW |
5 |
73,072,143 (GRCm39) |
nonsense |
probably null |
|
|
R7586:Slain2
|
UTSW |
5 |
73,123,165 (GRCm39) |
missense |
probably benign |
|
|
R7763:Slain2
|
UTSW |
5 |
73,105,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7973:Slain2
|
UTSW |
5 |
73,112,779 (GRCm39) |
nonsense |
probably null |
|
|
R8994:Slain2
|
UTSW |
5 |
73,114,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9765:Slain2
|
UTSW |
5 |
73,114,969 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTTGCAATTCTACGAGGCGG -3'
(R):5'- ACAGTGACCATAACTACCTGTTTG -3'
Sequencing Primer
(F):5'- CTTGGATGATGAAGATGACAGTCTGC -3'
(R):5'- CCTGTTTGAAATAAAACCATCCGGGG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation