Incidental Mutation 'R3711:Hid1'
| ID |
259618 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hid1
|
| Ensembl Gene |
ENSMUSG00000034586 |
| Gene Name |
HID1 domain containing |
| Synonyms |
C630004H02Rik |
| MMRRC Submission |
040704-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R3711 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
115238533-115258582 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 115249601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 208
(L208Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044152]
[ENSMUST00000106542]
|
| AlphaFold |
Q8R1F6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044152
AA Change: L207Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000043789
Gene: ENSMUSG00000034586
AA Change: L207Q
| 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 damaging
Transcript: ENSMUST00000106542
AA Change: L208Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102152
Gene: ENSMUSG00000034586
AA Change: L208Q
| 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 damaging
Transcript: ENSMUST00000123428
AA Change: L119Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121914
Gene: ENSMUSG00000034586
AA Change: L119Q
| 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
|
| Meta Mutation Damage Score |
0.9408 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
G |
11: 109,837,081 (GRCm39) |
V1138A |
possibly damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,567,594 (GRCm39) |
I5193K |
probably benign |
Het |
| Adnp |
A |
T |
2: 168,026,743 (GRCm39) |
I184N |
probably damaging |
Het |
| Ahnak |
T |
G |
19: 8,985,262 (GRCm39) |
V2182G |
probably benign |
Het |
| Aif1l |
T |
A |
2: 31,859,763 (GRCm39) |
F94L |
probably damaging |
Het |
| Aspm |
G |
A |
1: 139,385,838 (GRCm39) |
G494D |
probably benign |
Het |
| Atic |
T |
A |
1: 71,617,738 (GRCm39) |
S563T |
probably benign |
Het |
| Bahcc1 |
A |
T |
11: 120,165,923 (GRCm39) |
I1060F |
probably benign |
Het |
| Cd27 |
A |
G |
6: 125,210,281 (GRCm39) |
Y189H |
probably damaging |
Het |
| Dnm2 |
C |
A |
9: 21,417,669 (GRCm39) |
|
probably benign |
Het |
| Exo1 |
A |
G |
1: 175,721,395 (GRCm39) |
T345A |
probably benign |
Het |
| Fbf1 |
T |
C |
11: 116,052,299 (GRCm39) |
H53R |
possibly damaging |
Het |
| Fbf1 |
A |
G |
11: 116,054,179 (GRCm39) |
I29T |
probably damaging |
Het |
| Gm14399 |
G |
A |
2: 174,973,303 (GRCm39) |
R151* |
probably null |
Het |
| Gsdma |
T |
A |
11: 98,557,045 (GRCm39) |
Y53* |
probably null |
Het |
| Kif4-ps |
A |
G |
12: 101,112,312 (GRCm39) |
E147G |
probably damaging |
Het |
| Kif7 |
A |
T |
7: 79,360,640 (GRCm39) |
V245D |
probably benign |
Het |
| Klhdc4 |
A |
G |
8: 122,524,794 (GRCm39) |
V378A |
probably benign |
Het |
| Lrfn2 |
A |
G |
17: 49,378,188 (GRCm39) |
E423G |
possibly damaging |
Het |
| Lrp4 |
T |
A |
2: 91,332,299 (GRCm39) |
N1665K |
probably benign |
Het |
| Mast3 |
C |
A |
8: 71,232,251 (GRCm39) |
R1242L |
probably benign |
Het |
| Mon1b |
T |
C |
8: 114,365,779 (GRCm39) |
M369T |
possibly damaging |
Het |
| Mta3 |
A |
G |
17: 84,070,417 (GRCm39) |
I193V |
probably damaging |
Het |
| Narf |
G |
T |
11: 121,137,764 (GRCm39) |
E224* |
probably null |
Het |
| Nedd4l |
G |
A |
18: 65,342,790 (GRCm39) |
V909I |
possibly damaging |
Het |
| Nmnat3 |
T |
A |
9: 98,292,276 (GRCm39) |
Y108N |
probably damaging |
Het |
| Npr2 |
A |
T |
4: 43,643,378 (GRCm39) |
Y534F |
probably benign |
Het |
| Obox5 |
A |
T |
7: 15,492,713 (GRCm39) |
M223L |
probably benign |
Het |
| Optc |
A |
T |
1: 133,832,819 (GRCm39) |
S94T |
probably benign |
Het |
| Or10al5 |
T |
A |
17: 38,063,271 (GRCm39) |
C175* |
probably null |
Het |
| Or1l4 |
A |
G |
2: 37,091,285 (GRCm39) |
T11A |
probably benign |
Het |
| Or5d47 |
A |
T |
2: 87,804,066 (GRCm39) |
N314K |
probably benign |
Het |
| Or6c206 |
A |
T |
10: 129,097,093 (GRCm39) |
K88* |
probably null |
Het |
| Or8w1 |
T |
C |
2: 87,466,025 (GRCm39) |
D22G |
probably benign |
Het |
| Rbm27 |
T |
C |
18: 42,425,177 (GRCm39) |
|
probably benign |
Het |
| Spopl |
C |
T |
2: 23,427,392 (GRCm39) |
R221Q |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,702,572 (GRCm39) |
L423P |
probably damaging |
Het |
| Sun5 |
A |
G |
2: 153,709,468 (GRCm39) |
V74A |
probably benign |
Het |
| Tanc2 |
A |
G |
11: 105,689,516 (GRCm39) |
Y226C |
probably damaging |
Het |
| Tlr6 |
T |
C |
5: 65,111,152 (GRCm39) |
D585G |
possibly damaging |
Het |
| Tmt1a3 |
A |
T |
15: 100,232,961 (GRCm39) |
M51L |
probably benign |
Het |
| Tnrc6c |
A |
G |
11: 117,613,950 (GRCm39) |
T863A |
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,542,489 (GRCm39) |
G3352S |
probably benign |
Het |
| Wt1 |
G |
A |
2: 104,993,773 (GRCm39) |
|
probably benign |
Het |
| Ythdc2 |
C |
T |
18: 44,966,240 (GRCm39) |
L159F |
probably damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,859,251 (GRCm39) |
N1094S |
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,347,830 (GRCm39) |
S2070P |
possibly damaging |
Het |
| Zfp648 |
T |
A |
1: 154,080,304 (GRCm39) |
S154R |
probably benign |
Het |
| Zfp748 |
A |
G |
13: 67,688,915 (GRCm39) |
C782R |
probably damaging |
Het |
| Zfp992 |
C |
T |
4: 146,551,976 (GRCm39) |
H566Y |
probably damaging |
Het |
|
| Other mutations in Hid1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00321:Hid1
|
APN |
11 |
115,249,895 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATAGTTTCACGACACCAGGG -3'
(R):5'- TGACATGAACCGGTGAGCTG -3'
Sequencing Primer
(F):5'- AGGGGGCAGCACATCTC -3'
(R):5'- TGGCCTGTGCATAGCTCAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation