Incidental Mutation 'IGL00321:Hid1'
| ID |
13539 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hid1
|
| Ensembl Gene |
ENSMUSG00000034586 |
| Gene Name |
HID1 domain containing |
| Synonyms |
C630004H02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
IGL00321
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
115238533-115258582 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 115249895 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 84
(D84E)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044152]
[ENSMUST00000106542]
|
| AlphaFold |
Q8R1F6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044152
AA Change: D172E
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000043789
Gene: ENSMUSG00000034586
AA Change: D172E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dymeclin
|
1 |
763 |
3.9e-242 |
PFAM |
|
Pfam:Hid1
|
1 |
784 |
3.1e-260 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106542
AA Change: D173E
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000102152
Gene: ENSMUSG00000034586
AA Change: D173E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dymeclin
|
1 |
764 |
7.5e-275 |
PFAM |
|
Pfam:Hid1
|
1 |
785 |
2.3e-261 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123428
AA Change: D84E
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000121914
Gene: ENSMUSG00000034586
AA Change: D84E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Hid1
|
39 |
273 |
5.1e-78 |
PFAM |
|
Pfam:Dymeclin
|
41 |
273 |
1.7e-70 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130073
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145316
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152977
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153447
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
G |
8: 44,078,418 (GRCm39) |
I602T |
probably benign |
Het |
| Adam39 |
A |
G |
8: 41,279,783 (GRCm39) |
R725G |
possibly damaging |
Het |
| Arid2 |
A |
G |
15: 96,186,970 (GRCm39) |
E74G |
probably damaging |
Het |
| Carf |
T |
A |
1: 60,164,001 (GRCm39) |
|
probably benign |
Het |
| Cit |
A |
T |
5: 115,984,524 (GRCm39) |
Q32L |
probably damaging |
Het |
| Dennd4b |
A |
G |
3: 90,178,514 (GRCm39) |
T526A |
possibly damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,327,202 (GRCm39) |
E717G |
probably damaging |
Het |
| Ercc6 |
T |
A |
14: 32,290,029 (GRCm39) |
I968N |
probably damaging |
Het |
| Fcrl1 |
A |
T |
3: 87,296,942 (GRCm39) |
Y297F |
probably damaging |
Het |
| Gas2l3 |
A |
G |
10: 89,249,489 (GRCm39) |
L543P |
probably benign |
Het |
| Ifit1bl2 |
C |
T |
19: 34,597,319 (GRCm39) |
S99N |
probably benign |
Het |
| Kpna3 |
A |
G |
14: 61,629,302 (GRCm39) |
|
probably benign |
Het |
| Myadm |
C |
A |
7: 3,345,739 (GRCm39) |
P167Q |
possibly damaging |
Het |
| Ociad1 |
C |
T |
5: 73,461,886 (GRCm39) |
|
probably benign |
Het |
| Or2t43 |
A |
C |
11: 58,457,593 (GRCm39) |
Y193D |
probably damaging |
Het |
| Pcdh11x |
A |
T |
X: 119,502,265 (GRCm39) |
K1029N |
probably benign |
Het |
| Pcdhb11 |
A |
G |
18: 37,555,026 (GRCm39) |
T119A |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,592,617 (GRCm39) |
R926G |
probably damaging |
Het |
| Ppwd1 |
A |
G |
13: 104,353,651 (GRCm39) |
F369S |
probably damaging |
Het |
| Rreb1 |
T |
A |
13: 38,100,472 (GRCm39) |
M201K |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,802,235 (GRCm39) |
I795N |
probably damaging |
Het |
| Slc3a1 |
T |
C |
17: 85,368,261 (GRCm39) |
W510R |
probably damaging |
Het |
| Slc44a5 |
T |
C |
3: 153,968,576 (GRCm39) |
L589P |
probably damaging |
Het |
| Tfr2 |
A |
G |
5: 137,572,717 (GRCm39) |
D176G |
probably null |
Het |
| Tom1 |
T |
A |
8: 75,778,802 (GRCm39) |
S24T |
probably benign |
Het |
| Vmn2r66 |
T |
A |
7: 84,656,299 (GRCm39) |
Q239L |
probably benign |
Het |
| Ythdc2 |
A |
G |
18: 44,993,040 (GRCm39) |
T149A |
probably benign |
Het |
| Zc3h3 |
A |
G |
15: 75,651,162 (GRCm39) |
I686T |
probably damaging |
Het |
|
| Other mutations in Hid1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00783:Hid1
|
APN |
11 |
115,239,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00935:Hid1
|
APN |
11 |
115,239,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02081:Hid1
|
APN |
11 |
115,239,332 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02383:Hid1
|
APN |
11 |
115,243,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02637:Hid1
|
APN |
11 |
115,241,421 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03174:Hid1
|
APN |
11 |
115,251,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0124:Hid1
|
UTSW |
11 |
115,247,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0533:Hid1
|
UTSW |
11 |
115,239,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1027:Hid1
|
UTSW |
11 |
115,246,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1069:Hid1
|
UTSW |
11 |
115,247,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1171:Hid1
|
UTSW |
11 |
115,243,543 (GRCm39) |
missense |
probably benign |
|
|
R1583:Hid1
|
UTSW |
11 |
115,247,576 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1689:Hid1
|
UTSW |
11 |
115,251,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1746:Hid1
|
UTSW |
11 |
115,245,464 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1772:Hid1
|
UTSW |
11 |
115,239,299 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1773:Hid1
|
UTSW |
11 |
115,239,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1831:Hid1
|
UTSW |
11 |
115,239,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2234:Hid1
|
UTSW |
11 |
115,241,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2235:Hid1
|
UTSW |
11 |
115,241,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2897:Hid1
|
UTSW |
11 |
115,241,356 (GRCm39) |
missense |
probably benign |
|
|
R2898:Hid1
|
UTSW |
11 |
115,241,356 (GRCm39) |
missense |
probably benign |
|
|
R3711:Hid1
|
UTSW |
11 |
115,249,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4059:Hid1
|
UTSW |
11 |
115,247,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4394:Hid1
|
UTSW |
11 |
115,258,468 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4478:Hid1
|
UTSW |
11 |
115,252,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4552:Hid1
|
UTSW |
11 |
115,249,505 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4822:Hid1
|
UTSW |
11 |
115,246,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5691:Hid1
|
UTSW |
11 |
115,239,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5980:Hid1
|
UTSW |
11 |
115,241,774 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5981:Hid1
|
UTSW |
11 |
115,241,774 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6363:Hid1
|
UTSW |
11 |
115,243,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6577:Hid1
|
UTSW |
11 |
115,245,462 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7191:Hid1
|
UTSW |
11 |
115,239,295 (GRCm39) |
makesense |
probably null |
|
|
R7307:Hid1
|
UTSW |
11 |
115,239,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7484:Hid1
|
UTSW |
11 |
115,243,407 (GRCm39) |
splice site |
probably null |
|
|
R7485:Hid1
|
UTSW |
11 |
115,245,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7836:Hid1
|
UTSW |
11 |
115,249,821 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7883:Hid1
|
UTSW |
11 |
115,245,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7904:Hid1
|
UTSW |
11 |
115,246,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8765:Hid1
|
UTSW |
11 |
115,239,786 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9269:Hid1
|
UTSW |
11 |
115,252,502 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9598:Hid1
|
UTSW |
11 |
115,239,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9604:Hid1
|
UTSW |
11 |
115,243,466 (GRCm39) |
missense |
|
|
|
R9727:Hid1
|
UTSW |
11 |
115,245,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Hid1
|
UTSW |
11 |
115,239,629 (GRCm39) |
nonsense |
probably null |
|
|
X0066:Hid1
|
UTSW |
11 |
115,245,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Hid1
|
UTSW |
11 |
115,243,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation