Incidental Mutation 'R7713:Armh1'
| ID |
594724 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armh1
|
| Ensembl Gene |
ENSMUSG00000060268 |
| Gene Name |
armadillo-like helical domain containing 1 |
| Synonyms |
LOC381544, LOC381543, Ncrna00082, Gm1661 |
| MMRRC Submission |
045771-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R7713 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
117070531-117109322 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 117071425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 355
(M355K)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000165128
AA Change: M355K
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128613
Gene: ENSMUSG00000060268
AA Change: M355K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
162 |
176 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
C |
10: 87,066,173 (GRCm39) |
S119P |
possibly damaging |
Het |
| Agtpbp1 |
T |
A |
13: 59,661,966 (GRCm39) |
I282F |
probably damaging |
Het |
| Cep128 |
A |
T |
12: 90,986,096 (GRCm39) |
D1013E |
probably benign |
Het |
| Clock |
A |
T |
5: 76,393,267 (GRCm39) |
|
probably null |
Het |
| Cspg4b |
T |
G |
13: 113,483,075 (GRCm39) |
V1559G |
|
Het |
| D630003M21Rik |
G |
A |
2: 158,058,698 (GRCm39) |
Q401* |
probably null |
Het |
| Dnah17 |
C |
A |
11: 117,915,997 (GRCm39) |
V4302L |
probably benign |
Het |
| Drc3 |
A |
G |
11: 60,261,386 (GRCm39) |
Y179C |
probably benign |
Het |
| Erbb3 |
T |
C |
10: 128,410,318 (GRCm39) |
T647A |
probably benign |
Het |
| Esrp2 |
T |
C |
8: 106,860,908 (GRCm39) |
T205A |
probably benign |
Het |
| Fbxw7 |
T |
C |
3: 84,874,872 (GRCm39) |
|
probably null |
Het |
| Fmn1 |
C |
T |
2: 113,356,159 (GRCm39) |
P965S |
unknown |
Het |
| Fndc7 |
C |
T |
3: 108,777,979 (GRCm39) |
V412M |
possibly damaging |
Het |
| G2e3 |
C |
A |
12: 51,415,839 (GRCm39) |
A525E |
probably damaging |
Het |
| Gcfc2 |
C |
T |
6: 81,918,371 (GRCm39) |
R354C |
probably damaging |
Het |
| Ggt1 |
T |
A |
10: 75,421,508 (GRCm39) |
N510K |
probably damaging |
Het |
| Gnas |
C |
T |
2: 174,140,820 (GRCm39) |
T389I |
unknown |
Het |
| Hapln3 |
C |
T |
7: 78,767,121 (GRCm39) |
R306H |
probably benign |
Het |
| Hydin |
T |
C |
8: 111,320,444 (GRCm39) |
L4496P |
possibly damaging |
Het |
| Iqgap2 |
T |
A |
13: 95,867,952 (GRCm39) |
I219L |
probably benign |
Het |
| Kcnj2 |
T |
C |
11: 110,963,309 (GRCm39) |
S234P |
probably benign |
Het |
| Lipf |
T |
A |
19: 33,950,465 (GRCm39) |
S286T |
probably damaging |
Het |
| Lrrc32 |
G |
T |
7: 98,148,545 (GRCm39) |
G442W |
probably damaging |
Het |
| Megf10 |
GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA |
GGCAGCAACAGCACCAGCAGCA |
18: 57,427,071 (GRCm39) |
|
probably benign |
Het |
| Mtmr4 |
T |
C |
11: 87,488,550 (GRCm39) |
V68A |
probably damaging |
Het |
| Mug2 |
T |
C |
6: 122,055,754 (GRCm39) |
S1146P |
possibly damaging |
Het |
| Naa35 |
T |
C |
13: 59,745,919 (GRCm39) |
I75T |
probably benign |
Het |
| Nepn |
T |
A |
10: 52,277,274 (GRCm39) |
F337I |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,316,432 (GRCm39) |
M496V |
probably benign |
Het |
| Nthl1 |
A |
T |
17: 24,857,631 (GRCm39) |
I277F |
possibly damaging |
Het |
| Or10a3 |
A |
C |
7: 108,479,889 (GRCm39) |
I308S |
probably damaging |
Het |
| Or4p8 |
T |
C |
2: 88,728,122 (GRCm39) |
|
probably benign |
Het |
| Osr1 |
A |
T |
12: 9,629,253 (GRCm39) |
Y42F |
probably damaging |
Het |
| Rad54l2 |
G |
A |
9: 106,594,422 (GRCm39) |
R369W |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,465,691 (GRCm39) |
T4828S |
probably benign |
Het |
| Slc25a54 |
T |
A |
3: 109,010,133 (GRCm39) |
C211S |
probably damaging |
Het |
| Ube4b |
C |
T |
4: 149,483,238 (GRCm39) |
R10Q |
possibly damaging |
Het |
| Usp9y |
G |
A |
Y: 1,304,411 (GRCm39) |
Q2440* |
probably null |
Het |
| Yars1 |
G |
T |
4: 129,104,291 (GRCm39) |
V312L |
probably benign |
Het |
| Zfp26 |
G |
A |
9: 20,352,630 (GRCm39) |
T145I |
probably benign |
Het |
| Zic5 |
T |
C |
14: 122,701,525 (GRCm39) |
N402S |
unknown |
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 |
|
R4335:Armh1
|
UTSW |
4 |
117,071,660 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- TAGGCAGAGAGATCCTGCTTCC -3'
(R):5'- ATGTCGGCCATGGGTAACAC -3'
Sequencing Primer
(F):5'- AGAGAGATCCTGCTTCCAGCTTAC -3'
(R):5'- GCCATGGGTAACACTGACC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation