Incidental Mutation 'R9406:Armh4'
| ID |
711554 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armh4
|
| Ensembl Gene |
ENSMUSG00000036242 |
| Gene Name |
armadillo-like helical domain containing 4 |
| Synonyms |
3632451O06Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9406 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
49919017-50020843 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 50010945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 254
(G254E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036972]
[ENSMUST00000118129]
|
| AlphaFold |
Q8BT18 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036972
AA Change: G254E
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000036220
Gene: ENSMUSG00000036242
AA Change: G254E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4696
|
48 |
609 |
3.8e-224 |
PFAM |
|
transmembrane domain
|
714 |
736 |
N/A |
INTRINSIC |
|
low complexity region
|
741 |
753 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118129
AA Change: G254E
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000113609
Gene: ENSMUSG00000036242
AA Change: G254E
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
603 |
644 |
N/A |
INTRINSIC |
|
transmembrane domain
|
714 |
736 |
N/A |
INTRINSIC |
|
low complexity region
|
741 |
754 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
A |
G |
17: 35,879,487 (GRCm39) |
Y275C |
possibly damaging |
Het |
| 4932414N04Rik |
A |
G |
2: 68,498,019 (GRCm39) |
K150R |
unknown |
Het |
| Aatf |
ACACACACACACACACACACACACACACACACACACACACACACACAC |
ACACACACACACACACACACACACACACACACACACACACACACACACAC |
11: 84,361,866 (GRCm39) |
|
probably null |
Het |
| Ank3 |
C |
A |
10: 69,645,011 (GRCm39) |
T92K |
unknown |
Het |
| Cdca2 |
T |
C |
14: 67,937,772 (GRCm39) |
S294G |
unknown |
Het |
| Cerk |
A |
G |
15: 86,028,787 (GRCm39) |
I423T |
possibly damaging |
Het |
| Cfap74 |
A |
T |
4: 155,510,626 (GRCm39) |
K404* |
probably null |
Het |
| Cftr |
T |
C |
6: 18,299,866 (GRCm39) |
V1213A |
probably benign |
Het |
| Chst11 |
A |
G |
10: 83,026,881 (GRCm39) |
T103A |
possibly damaging |
Het |
| Col22a1 |
A |
G |
15: 71,845,541 (GRCm39) |
I407T |
probably damaging |
Het |
| Cpn2 |
A |
G |
16: 30,078,360 (GRCm39) |
V447A |
probably benign |
Het |
| Crybg3 |
T |
C |
16: 59,378,839 (GRCm39) |
E805G |
probably benign |
Het |
| Cstb |
A |
G |
10: 78,263,173 (GRCm39) |
H66R |
probably benign |
Het |
| Cyp2g1 |
T |
C |
7: 26,518,910 (GRCm39) |
|
probably null |
Het |
| Fkbp1b |
G |
T |
12: 4,883,732 (GRCm39) |
H88N |
probably benign |
Het |
| Gm4884 |
A |
T |
7: 40,692,565 (GRCm39) |
D178V |
probably damaging |
Het |
| Grik5 |
T |
C |
7: 24,757,969 (GRCm39) |
T371A |
probably benign |
Het |
| Hydin |
G |
A |
8: 111,314,412 (GRCm39) |
G4299S |
probably null |
Het |
| Ibtk |
A |
T |
9: 85,603,393 (GRCm39) |
Y537* |
probably null |
Het |
| Ighv8-9 |
A |
G |
12: 115,432,257 (GRCm39) |
L18P |
probably damaging |
Het |
| Lbp |
G |
T |
2: 158,159,477 (GRCm39) |
K203N |
probably benign |
Het |
| Lilra6 |
C |
T |
7: 3,917,853 (GRCm39) |
R97Q |
probably benign |
Het |
| Man1c1 |
A |
G |
4: 134,303,318 (GRCm39) |
I392T |
probably damaging |
Het |
| Mcf2l |
A |
T |
8: 13,059,676 (GRCm39) |
H727L |
probably damaging |
Het |
| Med7 |
T |
A |
11: 46,331,865 (GRCm39) |
F153L |
probably benign |
Het |
| Neurl1b |
G |
C |
17: 26,657,820 (GRCm39) |
V253L |
probably benign |
Het |
| Noc2l |
T |
C |
4: 156,320,511 (GRCm39) |
S4P |
probably benign |
Het |
| Obscn |
A |
C |
11: 58,947,805 (GRCm39) |
F4408C |
|
Het |
| Or1j17 |
A |
G |
2: 36,578,296 (GRCm39) |
Y94C |
possibly damaging |
Het |
| Or4f62 |
A |
G |
2: 111,986,643 (GRCm39) |
I116V |
probably benign |
Het |
| Orc2 |
T |
C |
1: 58,506,842 (GRCm39) |
Q498R |
probably damaging |
Het |
| Oxsm |
A |
C |
14: 16,242,531 (GRCm38) |
D79E |
probably benign |
Het |
| Pask |
G |
A |
1: 93,251,987 (GRCm39) |
T464I |
probably benign |
Het |
| Pcdha8 |
A |
G |
18: 37,126,922 (GRCm39) |
N468S |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,728,722 (GRCm39) |
V565E |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,771,097 (GRCm39) |
I67V |
probably benign |
Het |
| Pde4d |
A |
G |
13: 109,877,064 (GRCm39) |
D139G |
probably damaging |
Het |
| Pdzd8 |
C |
T |
19: 59,333,245 (GRCm39) |
E259K |
|
Het |
| Phactr3 |
T |
C |
2: 177,925,856 (GRCm39) |
L377P |
probably damaging |
Het |
| Ppargc1b |
G |
A |
18: 61,444,051 (GRCm39) |
P387S |
possibly damaging |
Het |
| Prmt7 |
T |
G |
8: 106,970,435 (GRCm39) |
V426G |
probably damaging |
Het |
| Rab39 |
G |
C |
9: 53,597,915 (GRCm39) |
P117A |
probably damaging |
Het |
| Rab40b |
G |
A |
11: 121,254,352 (GRCm39) |
R62* |
probably null |
Het |
| Rpf1 |
T |
G |
3: 146,213,937 (GRCm39) |
H220P |
probably damaging |
Het |
| Rps6kl1 |
A |
G |
12: 85,186,280 (GRCm39) |
I276T |
probably benign |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,118 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
T |
C |
7: 110,040,702 (GRCm39) |
Q375R |
possibly damaging |
Het |
| Sestd1 |
G |
A |
2: 77,075,421 (GRCm39) |
|
probably benign |
Het |
| Slc38a6 |
T |
A |
12: 73,376,767 (GRCm39) |
Y140* |
probably null |
Het |
| Smpd1 |
C |
A |
7: 105,203,750 (GRCm39) |
H4Q |
possibly damaging |
Het |
| Sox8 |
A |
T |
17: 25,786,634 (GRCm39) |
S356R |
probably damaging |
Het |
| Tapbpl |
A |
G |
6: 125,205,319 (GRCm39) |
L209P |
probably damaging |
Het |
| Txndc11 |
A |
G |
16: 10,893,498 (GRCm39) |
L744P |
probably benign |
Het |
| Ush2a |
C |
T |
1: 187,995,646 (GRCm39) |
P139L |
probably benign |
Het |
| Vmn1r54 |
A |
T |
6: 90,246,092 (GRCm39) |
N2I |
probably damaging |
Het |
| Vmn2r112 |
C |
T |
17: 22,824,223 (GRCm39) |
Q493* |
probably null |
Het |
| Vps16 |
T |
C |
2: 130,283,425 (GRCm39) |
|
probably null |
Het |
| Zfp40 |
A |
T |
17: 23,396,129 (GRCm39) |
S153T |
possibly damaging |
Het |
| Zfp523 |
G |
A |
17: 28,416,840 (GRCm39) |
A109T |
probably benign |
Het |
| Zfp78 |
A |
T |
7: 6,382,182 (GRCm39) |
N411Y |
probably benign |
Het |
|
| Other mutations in Armh4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00470:Armh4
|
APN |
14 |
50,010,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00981:Armh4
|
APN |
14 |
50,010,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01447:Armh4
|
APN |
14 |
50,005,923 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01645:Armh4
|
APN |
14 |
50,011,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02135:Armh4
|
APN |
14 |
50,011,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02154:Armh4
|
APN |
14 |
50,010,399 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02163:Armh4
|
APN |
14 |
50,011,614 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL03234:Armh4
|
APN |
14 |
50,005,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0014:Armh4
|
UTSW |
14 |
49,989,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0165:Armh4
|
UTSW |
14 |
50,011,243 (GRCm39) |
missense |
probably benign |
|
|
R0240:Armh4
|
UTSW |
14 |
50,005,859 (GRCm39) |
splice site |
probably benign |
|
|
R0553:Armh4
|
UTSW |
14 |
49,920,143 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0616:Armh4
|
UTSW |
14 |
50,011,113 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0635:Armh4
|
UTSW |
14 |
50,010,600 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1423:Armh4
|
UTSW |
14 |
49,988,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1547:Armh4
|
UTSW |
14 |
50,010,953 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1642:Armh4
|
UTSW |
14 |
50,005,867 (GRCm39) |
splice site |
probably null |
|
|
R1657:Armh4
|
UTSW |
14 |
50,011,017 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1717:Armh4
|
UTSW |
14 |
49,989,121 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1875:Armh4
|
UTSW |
14 |
49,919,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1900:Armh4
|
UTSW |
14 |
50,008,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1916:Armh4
|
UTSW |
14 |
50,005,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1945:Armh4
|
UTSW |
14 |
50,005,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2102:Armh4
|
UTSW |
14 |
50,011,459 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2147:Armh4
|
UTSW |
14 |
49,989,028 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2149:Armh4
|
UTSW |
14 |
49,989,028 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3921:Armh4
|
UTSW |
14 |
50,011,659 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4063:Armh4
|
UTSW |
14 |
50,011,444 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4373:Armh4
|
UTSW |
14 |
50,007,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4374:Armh4
|
UTSW |
14 |
50,007,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4377:Armh4
|
UTSW |
14 |
50,007,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4589:Armh4
|
UTSW |
14 |
50,011,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4940:Armh4
|
UTSW |
14 |
50,010,939 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4986:Armh4
|
UTSW |
14 |
49,989,111 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5047:Armh4
|
UTSW |
14 |
50,007,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5104:Armh4
|
UTSW |
14 |
50,010,929 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5682:Armh4
|
UTSW |
14 |
49,989,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6357:Armh4
|
UTSW |
14 |
50,010,769 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6478:Armh4
|
UTSW |
14 |
50,010,789 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6673:Armh4
|
UTSW |
14 |
50,008,049 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7035:Armh4
|
UTSW |
14 |
50,010,507 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7054:Armh4
|
UTSW |
14 |
50,011,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7458:Armh4
|
UTSW |
14 |
49,920,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7536:Armh4
|
UTSW |
14 |
50,011,703 (GRCm39) |
splice site |
probably null |
|
|
R7944:Armh4
|
UTSW |
14 |
50,010,670 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7945:Armh4
|
UTSW |
14 |
50,010,670 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8049:Armh4
|
UTSW |
14 |
50,010,993 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8066:Armh4
|
UTSW |
14 |
50,005,980 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8519:Armh4
|
UTSW |
14 |
50,010,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8765:Armh4
|
UTSW |
14 |
49,920,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8766:Armh4
|
UTSW |
14 |
50,011,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8833:Armh4
|
UTSW |
14 |
50,011,318 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8936:Armh4
|
UTSW |
14 |
50,008,024 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9007:Armh4
|
UTSW |
14 |
50,011,695 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9122:Armh4
|
UTSW |
14 |
50,011,459 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9741:Armh4
|
UTSW |
14 |
50,008,081 (GRCm39) |
missense |
probably benign |
0.06 |
|
X0026:Armh4
|
UTSW |
14 |
49,920,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATTTGGTGTCATCCCACTCC -3'
(R):5'- TAGCAGCAGTCACAGACGTAAC -3'
Sequencing Primer
(F):5'- GTCATCCCACTCCTCATTGAAGATAG -3'
(R):5'- CAGACGTAACACATGGTTCTCTGG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation