Incidental Mutation 'R6538:Adrm1b'
| ID |
520521 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adrm1b
|
| Ensembl Gene |
ENSMUSG00000042165 |
| Gene Name |
adhesion regulating molecule 1B |
| Synonyms |
Gm9774 |
| MMRRC Submission |
044664-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.545)
|
| Stock # |
R6538 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
92335374-92336730 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 92336562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 47
(V47M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045065
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047300]
[ENSMUST00000067102]
[ENSMUST00000192538]
|
| AlphaFold |
A0A0A6YVU8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047300
AA Change: V47M
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000045065
Gene: ENSMUSG00000042165
AA Change: V47M
| 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 |
unknown
Transcript: ENSMUST00000192538
AA Change: V47M
|
| SMART Domains |
Protein: ENSMUSP00000141274
Gene: ENSMUSG00000042165
AA Change: V47M
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930009A15Rik |
A |
G |
10: 115,406,104 (GRCm39) |
|
probably benign |
Het |
| Abcd4 |
T |
A |
12: 84,658,535 (GRCm39) |
M223L |
probably benign |
Het |
| Adat1 |
T |
C |
8: 112,695,094 (GRCm39) |
I482V |
probably benign |
Het |
| Arfgef2 |
A |
G |
2: 166,735,541 (GRCm39) |
|
probably null |
Het |
| Atn1 |
A |
G |
6: 124,723,512 (GRCm39) |
|
probably benign |
Het |
| Cyb561d2 |
C |
A |
9: 107,417,216 (GRCm39) |
M178I |
possibly damaging |
Het |
| Dnah14 |
A |
T |
1: 181,412,550 (GRCm39) |
H30L |
unknown |
Het |
| Dnah2 |
T |
C |
11: 69,328,023 (GRCm39) |
I3367V |
possibly damaging |
Het |
| Fcmr |
A |
G |
1: 130,802,762 (GRCm39) |
Y125C |
possibly damaging |
Het |
| Gm7298 |
G |
T |
6: 121,753,132 (GRCm39) |
V870L |
probably damaging |
Het |
| Grin3a |
T |
C |
4: 49,770,856 (GRCm39) |
S639G |
probably damaging |
Het |
| H1f6 |
A |
G |
13: 23,879,904 (GRCm39) |
E19G |
probably benign |
Het |
| Ighv9-1 |
T |
A |
12: 114,057,685 (GRCm39) |
T72S |
possibly damaging |
Het |
| Klra2 |
T |
A |
6: 131,219,953 (GRCm39) |
H76L |
probably damaging |
Het |
| Lamp1 |
A |
G |
8: 13,221,285 (GRCm39) |
T209A |
probably benign |
Het |
| Lrrc9 |
T |
A |
12: 72,547,703 (GRCm39) |
Y1294N |
probably benign |
Het |
| Or2b11 |
C |
T |
11: 59,462,411 (GRCm39) |
V52I |
probably benign |
Het |
| Or5t9 |
A |
T |
2: 86,659,869 (GRCm39) |
T258S |
possibly damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Pik3ca |
T |
C |
3: 32,493,853 (GRCm39) |
Y272H |
probably damaging |
Het |
| Spindoc |
T |
C |
19: 7,360,064 (GRCm39) |
I35V |
probably benign |
Het |
| St6galnac4 |
A |
C |
2: 32,487,090 (GRCm39) |
M262L |
possibly damaging |
Het |
| Szt2 |
C |
T |
4: 118,247,674 (GRCm39) |
|
probably null |
Het |
| Tcstv7b |
T |
C |
13: 120,702,468 (GRCm39) |
V88A |
possibly damaging |
Het |
| Trem1 |
T |
C |
17: 48,544,118 (GRCm39) |
Y48H |
possibly damaging |
Het |
| Trim38 |
A |
T |
13: 23,969,932 (GRCm39) |
T164S |
probably damaging |
Het |
| Zfp715 |
A |
T |
7: 42,948,573 (GRCm39) |
H462Q |
possibly damaging |
Het |
| Zfyve16 |
C |
T |
13: 92,641,024 (GRCm39) |
G1240E |
probably damaging |
Het |
|
| Other mutations in Adrm1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00569:Adrm1b
|
APN |
3 |
92,335,707 (GRCm39) |
missense |
probably benign |
0.06 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATCTTGGTCAGTCTTGGGCTC -3'
(R):5'- GGGATTGAAAACTGTTCCAGG -3'
Sequencing Primer
(F):5'- GGCTCCTGCATCCAGAAGAAG -3'
(R):5'- TTGAAAACTGTTCCAGGCCCCTAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation