Incidental Mutation 'IGL02248:Slain1'
| ID |
286276 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slain1
|
| Ensembl Gene |
ENSMUSG00000055717 |
| Gene Name |
SLAIN motif family, member 1 |
| Synonyms |
9630044O09Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.315)
|
| Stock # |
IGL02248
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
103887664-103942343 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103923213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 102
(D102G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123742
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069443]
[ENSMUST00000160805]
[ENSMUST00000162818]
|
| AlphaFold |
Q68FF7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069443
AA Change: D268G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070592
Gene: ENSMUSG00000055717
AA Change: D268G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
13 |
72 |
2e-3 |
SMART |
|
low complexity region
|
91 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
173 |
N/A |
INTRINSIC |
|
Pfam:SLAIN
|
185 |
237 |
6.7e-19 |
PFAM |
|
Pfam:SLAIN
|
230 |
579 |
1.7e-138 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000159456
AA Change: D108G
|
| SMART Domains |
Protein: ENSMUSP00000125685
Gene: ENSMUSG00000055717
AA Change: D108G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SLAIN
|
15 |
420 |
4e-141 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160805
AA Change: D221G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125128
Gene: ENSMUSG00000055717
AA Change: D221G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
76 |
N/A |
INTRINSIC |
|
Pfam:SLAIN
|
88 |
532 |
2.6e-144 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162818
AA Change: D102G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123742
Gene: ENSMUSG00000055717
AA Change: D102G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SLAIN
|
19 |
212 |
2e-86 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(6) : Gene trapped(6)
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ajap1 |
A |
T |
4: 153,516,568 (GRCm39) |
S258T |
possibly damaging |
Het |
| Ap1g1 |
A |
G |
8: 110,590,065 (GRCm39) |
|
probably benign |
Het |
| B4galnt4 |
T |
C |
7: 140,647,721 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,023,439 (GRCm39) |
|
probably null |
Het |
| Btnl9 |
T |
C |
11: 49,071,625 (GRCm39) |
D66G |
probably benign |
Het |
| Casp1 |
T |
A |
9: 5,299,452 (GRCm39) |
H60Q |
probably benign |
Het |
| Clec4n |
T |
G |
6: 123,207,527 (GRCm39) |
S30R |
probably damaging |
Het |
| Col22a1 |
A |
G |
15: 71,671,297 (GRCm39) |
L1021P |
unknown |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Fbxw7 |
A |
G |
3: 84,810,940 (GRCm39) |
N22D |
possibly damaging |
Het |
| Frrs1l |
T |
A |
4: 56,968,272 (GRCm39) |
N167Y |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,813,116 (GRCm39) |
I3145K |
possibly damaging |
Het |
| Gcc1 |
G |
T |
6: 28,418,513 (GRCm39) |
R607S |
probably damaging |
Het |
| Gm14443 |
A |
T |
2: 175,012,107 (GRCm39) |
I113K |
probably benign |
Het |
| Ica1 |
T |
C |
6: 8,758,387 (GRCm39) |
|
probably benign |
Het |
| Igkv4-69 |
T |
A |
6: 69,261,305 (GRCm39) |
|
probably benign |
Het |
| Igkv9-120 |
G |
T |
6: 68,027,221 (GRCm39) |
C45F |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,313,152 (GRCm39) |
Y2483C |
probably damaging |
Het |
| Lrpprc |
A |
G |
17: 85,078,895 (GRCm39) |
L273S |
probably damaging |
Het |
| Myh9 |
A |
T |
15: 77,670,814 (GRCm39) |
L476Q |
probably damaging |
Het |
| Nab2 |
T |
C |
10: 127,499,109 (GRCm39) |
I390V |
probably benign |
Het |
| Notch4 |
A |
T |
17: 34,806,172 (GRCm39) |
D1756V |
probably damaging |
Het |
| Nup54 |
T |
C |
5: 92,576,188 (GRCm39) |
|
probably null |
Het |
| Or14c41 |
T |
A |
7: 86,235,312 (GRCm39) |
Y276* |
probably null |
Het |
| Or8k38 |
A |
T |
2: 86,488,061 (GRCm39) |
V247E |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,115,990 (GRCm39) |
Y3006C |
probably damaging |
Het |
| Rpe65 |
T |
A |
3: 159,330,342 (GRCm39) |
L503Q |
probably damaging |
Het |
| Serinc5 |
A |
G |
13: 92,842,648 (GRCm39) |
D366G |
probably damaging |
Het |
| Smo |
A |
T |
6: 29,757,291 (GRCm39) |
I469F |
possibly damaging |
Het |
| Tomm70a |
T |
A |
16: 56,958,465 (GRCm39) |
S273T |
probably benign |
Het |
| Trak1 |
G |
T |
9: 121,275,860 (GRCm39) |
V281L |
probably damaging |
Het |
| Trib2 |
T |
C |
12: 15,843,967 (GRCm39) |
N225S |
possibly damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,718,703 (GRCm39) |
K685N |
probably damaging |
Het |
| Zcchc4 |
T |
A |
5: 52,953,418 (GRCm39) |
H142Q |
probably damaging |
Het |
| Zfp521 |
T |
C |
18: 13,977,303 (GRCm39) |
I1037V |
possibly damaging |
Het |
|
| Other mutations in Slain1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
P0016:Slain1
|
UTSW |
14 |
103,923,110 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0113:Slain1
|
UTSW |
14 |
103,923,261 (GRCm39) |
splice site |
probably benign |
|
|
R0547:Slain1
|
UTSW |
14 |
103,932,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2113:Slain1
|
UTSW |
14 |
103,888,282 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4986:Slain1
|
UTSW |
14 |
103,925,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6368:Slain1
|
UTSW |
14 |
103,894,391 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6899:Slain1
|
UTSW |
14 |
103,888,215 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7355:Slain1
|
UTSW |
14 |
103,940,012 (GRCm39) |
frame shift |
probably null |
|
|
R7442:Slain1
|
UTSW |
14 |
103,923,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7498:Slain1
|
UTSW |
14 |
103,893,429 (GRCm39) |
splice site |
probably null |
|
|
R7910:Slain1
|
UTSW |
14 |
103,923,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8043:Slain1
|
UTSW |
14 |
103,925,782 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8845:Slain1
|
UTSW |
14 |
103,925,747 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8872:Slain1
|
UTSW |
14 |
103,925,841 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8929:Slain1
|
UTSW |
14 |
103,923,164 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9008:Slain1
|
UTSW |
14 |
103,923,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9489:Slain1
|
UTSW |
14 |
103,902,112 (GRCm39) |
missense |
|
|
|
R9514:Slain1
|
UTSW |
14 |
103,932,748 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9605:Slain1
|
UTSW |
14 |
103,902,112 (GRCm39) |
missense |
|
|
|
R9683:Slain1
|
UTSW |
14 |
103,925,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Slain1
|
UTSW |
14 |
103,921,670 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2015-04-16 |
Incidental Mutation