Incidental Mutation 'IGL00569:Adrm1b'
| ID |
332648 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adrm1b
|
| Ensembl Gene |
ENSMUSG00000042165 |
| Gene Name |
adhesion regulating molecule 1B |
| Synonyms |
Gm9774 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.597)
|
| Stock # |
IGL00569
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
92335374-92336730 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92335707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 332
(T332A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047300]
[ENSMUST00000067102]
[ENSMUST00000192538]
|
| AlphaFold |
A0A0A6YVU8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047300
AA Change: T234A
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000045065
Gene: ENSMUSG00000042165
AA Change: T234A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Proteasom_Rpn13
|
29 |
111 |
5.8e-36 |
PFAM |
|
low complexity region
|
132 |
150 |
N/A |
INTRINSIC |
|
Pfam:RPN13_C
|
170 |
283 |
7.5e-38 |
PFAM |
|
low complexity region
|
292 |
305 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067102
|
| SMART Domains |
Protein: ENSMUSP00000063287
Gene: ENSMUSG00000054215
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SPRR2
|
2 |
65 |
1.8e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192538
AA Change: T332A
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000141274
Gene: ENSMUSG00000042165
AA Change: T332A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Proteasom_Rpn13
|
29 |
112 |
7.4e-35 |
PFAM |
|
low complexity region
|
135 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
254 |
N/A |
INTRINSIC |
|
PDB:2KR0|A
|
255 |
407 |
4e-78 |
PDB |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
G |
11: 110,077,875 (GRCm39) |
N1311H |
possibly damaging |
Het |
| Apol8 |
C |
T |
15: 77,634,255 (GRCm39) |
R107H |
probably benign |
Het |
| Cacna1a |
T |
A |
8: 85,189,343 (GRCm39) |
I98N |
probably damaging |
Het |
| Clps |
T |
A |
17: 28,779,636 (GRCm39) |
|
probably benign |
Het |
| Dcc |
T |
A |
18: 71,517,296 (GRCm39) |
|
probably null |
Het |
| Dock10 |
A |
G |
1: 80,562,729 (GRCm39) |
F544L |
probably damaging |
Het |
| Eif2ak2 |
A |
T |
17: 79,176,912 (GRCm39) |
S218T |
probably benign |
Het |
| Faf1 |
T |
C |
4: 109,819,077 (GRCm39) |
*650Q |
probably null |
Het |
| Fxn |
A |
T |
19: 24,244,714 (GRCm39) |
I142N |
probably damaging |
Het |
| Gm10610 |
A |
T |
7: 83,198,778 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa1l |
C |
T |
17: 35,196,441 (GRCm39) |
T160I |
probably damaging |
Het |
| Kcng4 |
A |
G |
8: 120,353,070 (GRCm39) |
V280A |
probably benign |
Het |
| Khsrp |
T |
C |
17: 57,330,092 (GRCm39) |
T646A |
possibly damaging |
Het |
| Lilra6 |
A |
G |
7: 3,917,588 (GRCm39) |
S136P |
probably damaging |
Het |
| Lmo7 |
T |
G |
14: 102,124,487 (GRCm39) |
N315K |
probably damaging |
Het |
| Map3k5 |
A |
G |
10: 19,810,790 (GRCm39) |
T147A |
possibly damaging |
Het |
| Mical3 |
T |
C |
6: 120,938,585 (GRCm39) |
E1134G |
possibly damaging |
Het |
| Nek3 |
A |
G |
8: 22,648,722 (GRCm39) |
L103P |
probably damaging |
Het |
| Nudt17 |
G |
T |
3: 96,614,343 (GRCm39) |
P222Q |
probably damaging |
Het |
| Pla2r1 |
G |
T |
2: 60,250,769 (GRCm39) |
T1386K |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,738,872 (GRCm39) |
|
probably benign |
Het |
| Rgl1 |
A |
C |
1: 152,447,368 (GRCm39) |
S134A |
probably benign |
Het |
| Rnls |
T |
A |
19: 33,145,888 (GRCm39) |
E195V |
probably benign |
Het |
| Sall4 |
T |
C |
2: 168,597,232 (GRCm39) |
N536S |
probably benign |
Het |
| Serinc3 |
G |
T |
2: 163,469,921 (GRCm39) |
P309Q |
probably damaging |
Het |
| Smc5 |
G |
A |
19: 23,213,329 (GRCm39) |
R528C |
probably damaging |
Het |
| Stxbp3-ps |
A |
T |
19: 9,535,186 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem67 |
T |
A |
4: 12,061,826 (GRCm39) |
I549L |
probably damaging |
Het |
| Trank1 |
C |
A |
9: 111,174,579 (GRCm39) |
H269N |
possibly damaging |
Het |
| Wdr87-ps |
A |
T |
7: 29,233,565 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Adrm1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01474:Adrm1b
|
APN |
3 |
92,335,650 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0634:Adrm1b
|
UTSW |
3 |
92,336,116 (GRCm39) |
nonsense |
probably null |
|
|
R1791:Adrm1b
|
UTSW |
3 |
92,335,538 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2215:Adrm1b
|
UTSW |
3 |
92,335,730 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4077:Adrm1b
|
UTSW |
3 |
92,336,195 (GRCm39) |
unclassified |
probably benign |
|
|
R5221:Adrm1b
|
UTSW |
3 |
92,335,815 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5481:Adrm1b
|
UTSW |
3 |
92,336,658 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5589:Adrm1b
|
UTSW |
3 |
92,336,112 (GRCm39) |
unclassified |
probably benign |
|
|
R5611:Adrm1b
|
UTSW |
3 |
92,335,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5621:Adrm1b
|
UTSW |
3 |
92,335,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6012:Adrm1b
|
UTSW |
3 |
92,336,791 (GRCm39) |
splice site |
probably null |
|
|
R6538:Adrm1b
|
UTSW |
3 |
92,336,562 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6773:Adrm1b
|
UTSW |
3 |
92,336,556 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6995:Adrm1b
|
UTSW |
3 |
92,336,315 (GRCm39) |
unclassified |
probably benign |
|
|
R7953:Adrm1b
|
UTSW |
3 |
92,336,637 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7980:Adrm1b
|
UTSW |
3 |
92,336,406 (GRCm39) |
nonsense |
probably null |
|
|
R8055:Adrm1b
|
UTSW |
3 |
92,336,139 (GRCm39) |
missense |
unknown |
|
|
R9058:Adrm1b
|
UTSW |
3 |
92,335,559 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1088:Adrm1b
|
UTSW |
3 |
92,336,397 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-08-05 |
Incidental Mutation