Incidental Mutation 'R5691:Hid1'
| ID |
443696 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hid1
|
| Ensembl Gene |
ENSMUSG00000034586 |
| Gene Name |
HID1 domain containing |
| Synonyms |
C630004H02Rik |
| MMRRC Submission |
043324-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R5691 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
115238533-115258582 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115239645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 762
(W762R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019006]
[ENSMUST00000044152]
[ENSMUST00000106542]
[ENSMUST00000106543]
|
| AlphaFold |
Q8R1F6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019006
|
| SMART Domains |
Protein: ENSMUSP00000019006
Gene: ENSMUSG00000018862
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
transmembrane domain
|
102 |
120 |
N/A |
INTRINSIC |
|
Pfam:Otopetrin
|
142 |
483 |
3e-40 |
PFAM |
|
Pfam:Otopetrin
|
506 |
583 |
1.2e-14 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044152
AA Change: W761R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043789
Gene: ENSMUSG00000034586
AA Change: W761R
| 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: W762R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102152
Gene: ENSMUSG00000034586
AA Change: W762R
| 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: ENSMUST00000106543
|
| SMART Domains |
Protein: ENSMUSP00000102153
Gene: ENSMUSG00000018862
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
transmembrane domain
|
102 |
120 |
N/A |
INTRINSIC |
|
transmembrane domain
|
141 |
163 |
N/A |
INTRINSIC |
|
transmembrane domain
|
178 |
195 |
N/A |
INTRINSIC |
|
transmembrane domain
|
208 |
227 |
N/A |
INTRINSIC |
|
Pfam:Otopetrin
|
241 |
462 |
2.1e-20 |
PFAM |
|
Pfam:Otopetrin
|
487 |
564 |
2.2e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146256
|
| Meta Mutation Damage Score |
0.9495 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
98% (60/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410022M11Rik |
A |
G |
14: 57,049,830 (GRCm39) |
|
probably benign |
Het |
| Abcb5 |
A |
T |
12: 118,890,970 (GRCm39) |
M509K |
probably damaging |
Het |
| Ap4m1 |
A |
G |
5: 138,170,653 (GRCm39) |
Y34C |
probably damaging |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Bcl10 |
C |
T |
3: 145,638,904 (GRCm39) |
T182I |
probably benign |
Het |
| Cdc123 |
T |
A |
2: 5,827,986 (GRCm39) |
N87I |
probably benign |
Het |
| Cfap46 |
T |
C |
7: 139,186,616 (GRCm39) |
E2431G |
possibly damaging |
Het |
| Dcc |
T |
C |
18: 71,708,154 (GRCm39) |
T521A |
probably damaging |
Het |
| Defb46 |
T |
A |
8: 19,292,149 (GRCm39) |
I55K |
probably benign |
Het |
| Dlgap4 |
A |
G |
2: 156,546,390 (GRCm39) |
T353A |
probably benign |
Het |
| Eqtn |
C |
A |
4: 94,811,965 (GRCm39) |
|
probably null |
Het |
| Ermn |
A |
T |
2: 57,937,776 (GRCm39) |
M279K |
probably damaging |
Het |
| Fan1 |
C |
A |
7: 64,004,118 (GRCm39) |
|
probably null |
Het |
| Fbxo17 |
G |
A |
7: 28,436,897 (GRCm39) |
R284H |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,486,878 (GRCm39) |
D3291G |
possibly damaging |
Het |
| Idi2l |
A |
T |
13: 8,992,693 (GRCm39) |
Y91* |
probably null |
Het |
| Ifi207 |
A |
G |
1: 173,559,992 (GRCm39) |
I160T |
unknown |
Het |
| Inpp4b |
T |
A |
8: 82,617,323 (GRCm39) |
|
probably benign |
Het |
| Iqcd |
C |
T |
5: 120,740,571 (GRCm39) |
Q301* |
probably null |
Het |
| Jph1 |
T |
G |
1: 17,074,587 (GRCm39) |
Q477P |
probably benign |
Het |
| Kdm4c |
A |
T |
4: 74,252,965 (GRCm39) |
I511L |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,332,897 (GRCm39) |
D1540G |
probably damaging |
Het |
| Lrrc69 |
T |
A |
4: 14,769,648 (GRCm39) |
I168F |
probably damaging |
Het |
| Mgat4e |
A |
T |
1: 134,468,729 (GRCm39) |
|
probably benign |
Het |
| Mroh7 |
C |
A |
4: 106,559,815 (GRCm39) |
G704V |
probably damaging |
Het |
| Nadsyn1 |
C |
T |
7: 143,366,316 (GRCm39) |
|
probably null |
Het |
| Ncoa2 |
A |
T |
1: 13,250,774 (GRCm39) |
C303S |
probably damaging |
Het |
| Nova1 |
T |
C |
12: 46,863,738 (GRCm39) |
T71A |
unknown |
Het |
| Nrcam |
T |
C |
12: 44,611,039 (GRCm39) |
Y554H |
probably damaging |
Het |
| Nubpl |
G |
A |
12: 52,152,059 (GRCm39) |
|
probably benign |
Het |
| Oasl2 |
C |
A |
5: 115,037,828 (GRCm39) |
T75K |
possibly damaging |
Het |
| Or8h9 |
A |
T |
2: 86,789,616 (GRCm39) |
F62Y |
probably damaging |
Het |
| P3h3 |
C |
T |
6: 124,832,116 (GRCm39) |
G257R |
probably damaging |
Het |
| Parp14 |
A |
G |
16: 35,683,909 (GRCm39) |
V139A |
probably benign |
Het |
| Pgam5 |
G |
A |
5: 110,414,959 (GRCm39) |
P85S |
probably damaging |
Het |
| Phpt1 |
T |
C |
2: 25,463,707 (GRCm39) |
Y96C |
probably damaging |
Het |
| Plekhm2 |
A |
C |
4: 141,355,600 (GRCm39) |
S867A |
possibly damaging |
Het |
| Pramel26 |
A |
T |
4: 143,538,579 (GRCm39) |
W131R |
probably benign |
Het |
| Prss21 |
A |
G |
17: 24,087,759 (GRCm39) |
|
probably null |
Het |
| Rabgap1l |
A |
T |
1: 160,563,254 (GRCm39) |
Y108N |
probably damaging |
Het |
| Riox1 |
C |
T |
12: 83,998,466 (GRCm39) |
T334I |
possibly damaging |
Het |
| Rps3a2 |
G |
T |
14: 88,360,483 (GRCm39) |
|
noncoding transcript |
Het |
| Selenot |
C |
T |
3: 58,493,447 (GRCm39) |
A108V |
probably benign |
Het |
| Setd3 |
A |
T |
12: 108,126,544 (GRCm39) |
M98K |
probably benign |
Het |
| Slc22a27 |
T |
C |
19: 7,904,035 (GRCm39) |
H34R |
possibly damaging |
Het |
| Slco1a8 |
A |
T |
6: 141,940,581 (GRCm39) |
Y93* |
probably null |
Het |
| Sp3 |
A |
G |
2: 72,801,803 (GRCm39) |
L70S |
probably damaging |
Het |
| Syne2 |
TCCAGGTAGGGCACACC |
TCC |
12: 76,074,630 (GRCm39) |
|
probably null |
Het |
| Tcl1b4 |
C |
A |
12: 105,168,806 (GRCm39) |
D23E |
possibly damaging |
Het |
| Tespa1 |
T |
A |
10: 130,190,638 (GRCm39) |
|
probably null |
Het |
| Tmc7 |
T |
C |
7: 118,141,116 (GRCm39) |
I672V |
probably benign |
Het |
| Trps1 |
T |
A |
15: 50,690,700 (GRCm39) |
Q14L |
probably benign |
Het |
| Vmn2r73 |
A |
G |
7: 85,507,299 (GRCm39) |
V671A |
probably damaging |
Het |
| Zfp106 |
G |
A |
2: 120,354,952 (GRCm39) |
S1273F |
probably damaging |
Het |
| Zfp90 |
C |
A |
8: 107,151,710 (GRCm39) |
Y474* |
probably null |
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 |
|
|
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 |
|
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'- CACTCTGGGTAATGAGTGCC -3'
(R):5'- GTGAGTCCAGAAGCTGTCCATG -3'
Sequencing Primer
(F):5'- TAATGAGTGCCCACCCTCG -3'
(R):5'- CCAGAAGCTGTCCATGGAGGG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation