Incidental Mutation 'R4335:Armh1'
| ID |
499935 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armh1
|
| Ensembl Gene |
ENSMUSG00000060268 |
| Gene Name |
armadillo-like helical domain containing 1 |
| Synonyms |
LOC381544, LOC381543, Ncrna00082, Gm1661 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R4335 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
117070531-117109322 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 117071660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 308
(I308N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077500]
[ENSMUST00000165128]
|
| AlphaFold |
E9Q963 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077500
|
| SMART Domains |
Protein: ENSMUSP00000076706
Gene: ENSMUSG00000060268
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1qbkb_
|
156 |
272 |
3e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141554
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165128
AA Change: I308N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128613
Gene: ENSMUSG00000060268
AA Change: I308N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
162 |
176 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179427
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
G |
A |
11: 110,042,843 (GRCm39) |
T402M |
probably damaging |
Het |
| Apbb1ip |
G |
A |
2: 22,761,574 (GRCm39) |
|
probably null |
Het |
| Ceacam5 |
G |
A |
7: 17,486,054 (GRCm39) |
R517Q |
probably benign |
Het |
| Clic4 |
C |
T |
4: 134,945,916 (GRCm39) |
S167N |
probably benign |
Het |
| Ehbp1l1 |
A |
T |
19: 5,758,797 (GRCm39) |
L1644Q |
probably damaging |
Het |
| Erh |
A |
G |
12: 80,689,615 (GRCm39) |
L3P |
probably benign |
Het |
| Fbxw7 |
T |
C |
3: 84,879,802 (GRCm39) |
C375R |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Fsd2 |
A |
T |
7: 81,191,813 (GRCm39) |
S521R |
probably damaging |
Het |
| Garin2 |
T |
C |
12: 78,759,006 (GRCm39) |
S109P |
possibly damaging |
Het |
| Hace1 |
A |
G |
10: 45,586,057 (GRCm39) |
Y865C |
probably damaging |
Het |
| Iqca1l |
A |
G |
5: 24,749,368 (GRCm39) |
L710P |
probably damaging |
Het |
| Iqcf1 |
G |
A |
9: 106,379,072 (GRCm39) |
R62H |
possibly damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Leng8 |
T |
C |
7: 4,150,037 (GRCm39) |
Y781H |
probably damaging |
Het |
| Med8 |
G |
T |
4: 118,266,567 (GRCm39) |
|
probably null |
Het |
| Myo19 |
G |
A |
11: 84,799,114 (GRCm39) |
A816T |
probably benign |
Het |
| Nat8f2 |
A |
G |
6: 85,845,233 (GRCm39) |
L43P |
probably damaging |
Het |
| Omd |
A |
C |
13: 49,743,712 (GRCm39) |
D254A |
probably benign |
Het |
| Psd2 |
G |
T |
18: 36,140,583 (GRCm39) |
A622S |
probably damaging |
Het |
| Rnf207 |
G |
A |
4: 152,400,062 (GRCm39) |
|
probably benign |
Het |
| Rsbn1l |
T |
C |
5: 21,113,191 (GRCm39) |
I444V |
probably null |
Het |
| Rxfp1 |
A |
G |
3: 79,594,105 (GRCm39) |
|
probably null |
Het |
| Selenot |
C |
A |
3: 58,492,722 (GRCm39) |
R70S |
possibly damaging |
Het |
| Sox6 |
A |
G |
7: 115,111,959 (GRCm39) |
S557P |
probably benign |
Het |
| Sp9 |
G |
A |
2: 73,104,633 (GRCm39) |
V396M |
probably damaging |
Het |
| Ston1 |
T |
C |
17: 88,943,125 (GRCm39) |
F177S |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,074,866 (GRCm39) |
E4602G |
probably damaging |
Het |
| Tbc1d19 |
A |
G |
5: 54,029,619 (GRCm39) |
T327A |
possibly damaging |
Het |
| Tsga13 |
T |
C |
6: 30,876,980 (GRCm39) |
D179G |
probably damaging |
Het |
| Wdr27 |
T |
A |
17: 15,141,018 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Armh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02049:Armh1
|
APN |
4 |
117,094,860 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0350:Armh1
|
UTSW |
4 |
117,072,753 (GRCm39) |
nonsense |
probably null |
|
|
R0584:Armh1
|
UTSW |
4 |
117,087,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1570:Armh1
|
UTSW |
4 |
117,087,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4898:Armh1
|
UTSW |
4 |
117,094,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5939:Armh1
|
UTSW |
4 |
117,087,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6300:Armh1
|
UTSW |
4 |
117,088,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6815:Armh1
|
UTSW |
4 |
117,087,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7526:Armh1
|
UTSW |
4 |
117,070,938 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7529:Armh1
|
UTSW |
4 |
117,070,938 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7630:Armh1
|
UTSW |
4 |
117,070,938 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7632:Armh1
|
UTSW |
4 |
117,070,938 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7659:Armh1
|
UTSW |
4 |
117,070,938 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7660:Armh1
|
UTSW |
4 |
117,070,938 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7662:Armh1
|
UTSW |
4 |
117,070,938 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7663:Armh1
|
UTSW |
4 |
117,070,938 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7665:Armh1
|
UTSW |
4 |
117,070,938 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7666:Armh1
|
UTSW |
4 |
117,070,938 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7713:Armh1
|
UTSW |
4 |
117,071,425 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8030:Armh1
|
UTSW |
4 |
117,087,184 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8433:Armh1
|
UTSW |
4 |
117,085,535 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8693:Armh1
|
UTSW |
4 |
117,088,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8756:Armh1
|
UTSW |
4 |
117,094,861 (GRCm39) |
missense |
probably benign |
|
|
R8832:Armh1
|
UTSW |
4 |
117,094,867 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8957:Armh1
|
UTSW |
4 |
117,087,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9064:Armh1
|
UTSW |
4 |
117,094,855 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Armh1
|
UTSW |
4 |
117,070,992 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATCTGCAGACTTGACTG -3'
(R):5'- GGGTATGGGCTTCTCAAGGA -3'
Sequencing Primer
(F):5'- CAGACTTGACTGCCCGAG -3'
(R):5'- TGGCCTGGAACTCACAGAGATC -3'
|
| Posted On |
2017-11-30 |
Incidental Mutation