Incidental Mutation 'R9598:Hid1'
ID |
723404 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hid1
|
Ensembl Gene |
ENSMUSG00000034586 |
Gene Name |
HID1 domain containing |
Synonyms |
C630004H02Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.167)
|
Stock # |
R9598 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
115238533-115258582 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 115239738 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 731
(T731S)
|
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: T730S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043789 Gene: ENSMUSG00000034586 AA Change: T730S
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: T731S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102152 Gene: ENSMUSG00000034586 AA Change: T731S
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
T |
C |
4: 103,088,604 (GRCm39) |
I302V |
probably benign |
Het |
Ackr2 |
A |
C |
9: 121,737,657 (GRCm39) |
T11P |
possibly damaging |
Het |
Ahnak |
A |
G |
19: 8,981,149 (GRCm39) |
N811S |
probably benign |
Het |
Atm |
T |
C |
9: 53,431,381 (GRCm39) |
I326V |
probably benign |
Het |
Ccn4 |
T |
A |
15: 66,784,764 (GRCm39) |
C146S |
possibly damaging |
Het |
Cdh23 |
A |
T |
10: 60,214,574 (GRCm39) |
F1480L |
probably benign |
Het |
Celsr2 |
T |
C |
3: 108,322,578 (GRCm39) |
E78G |
possibly damaging |
Het |
Ces1f |
A |
T |
8: 93,983,494 (GRCm39) |
N504K |
probably benign |
Het |
Chrna4 |
G |
A |
2: 180,679,264 (GRCm39) |
S61L |
probably damaging |
Het |
Clcn3 |
G |
T |
8: 61,366,061 (GRCm39) |
T864K |
unknown |
Het |
Cym |
A |
C |
3: 107,126,941 (GRCm39) |
D71E |
possibly damaging |
Het |
Ddx19b |
T |
C |
8: 111,747,673 (GRCm39) |
D87G |
probably benign |
Het |
Dnah7b |
T |
C |
1: 46,292,621 (GRCm39) |
V3002A |
possibly damaging |
Het |
Dnmt3a |
G |
A |
12: 3,946,997 (GRCm39) |
G408S |
probably benign |
Het |
Dock10 |
A |
T |
1: 80,625,939 (GRCm39) |
D66E |
probably benign |
Het |
Dsg3 |
A |
G |
18: 20,672,789 (GRCm39) |
D820G |
probably damaging |
Het |
Dst |
G |
A |
1: 34,153,014 (GRCm39) |
V92I |
possibly damaging |
Het |
Dusp16 |
T |
A |
6: 134,695,185 (GRCm39) |
T549S |
probably benign |
Het |
Ephx1 |
T |
A |
1: 180,827,381 (GRCm39) |
K91* |
probably null |
Het |
Flii |
A |
G |
11: 60,617,991 (GRCm39) |
F9L |
probably benign |
Het |
Fmn2 |
T |
C |
1: 174,436,308 (GRCm39) |
S760P |
unknown |
Het |
Fmnl3 |
A |
T |
15: 99,223,210 (GRCm39) |
V378E |
probably damaging |
Het |
Gbp4 |
A |
G |
5: 105,284,740 (GRCm39) |
S50P |
probably damaging |
Het |
Glra3 |
G |
T |
8: 56,393,718 (GRCm39) |
|
probably benign |
Het |
Gm10188 |
T |
C |
1: 132,157,033 (GRCm39) |
D111G |
unknown |
Het |
Gnptab |
A |
T |
10: 88,247,876 (GRCm39) |
E101V |
probably damaging |
Het |
Hacl1 |
C |
A |
14: 31,332,197 (GRCm39) |
M525I |
probably benign |
Het |
Ifi203 |
T |
C |
1: 173,751,522 (GRCm39) |
Y847C |
probably damaging |
Het |
Igfbpl1 |
C |
A |
4: 45,815,472 (GRCm39) |
L221F |
probably null |
Het |
Ighv1-12 |
A |
G |
12: 114,579,757 (GRCm39) |
Y22H |
probably benign |
Het |
Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
L3mbtl4 |
T |
A |
17: 68,866,767 (GRCm39) |
H335Q |
probably benign |
Het |
Mapre2 |
A |
G |
18: 24,016,707 (GRCm39) |
D287G |
probably benign |
Het |
Mfsd14b |
G |
A |
13: 65,214,522 (GRCm39) |
R477W |
probably benign |
Het |
Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
Msh4 |
A |
T |
3: 153,607,148 (GRCm39) |
S131T |
possibly damaging |
Het |
Nat8f2 |
A |
T |
6: 85,844,848 (GRCm39) |
D171E |
probably benign |
Het |
Ndufb5 |
G |
T |
3: 32,795,881 (GRCm39) |
L24F |
probably benign |
Het |
Nkain2 |
T |
C |
10: 32,278,291 (GRCm39) |
I45V |
probably damaging |
Het |
Nlrp9b |
T |
G |
7: 19,753,302 (GRCm39) |
M69R |
probably benign |
Het |
Or4k37 |
A |
T |
2: 111,159,633 (GRCm39) |
R290* |
probably null |
Het |
Or5d39 |
A |
C |
2: 87,979,935 (GRCm39) |
C143G |
probably damaging |
Het |
Or5d46 |
A |
T |
2: 88,170,821 (GRCm39) |
K304I |
possibly damaging |
Het |
Oxct2b |
T |
A |
4: 123,010,413 (GRCm39) |
V111E |
possibly damaging |
Het |
Parva |
T |
A |
7: 112,187,753 (GRCm39) |
V350D |
probably damaging |
Het |
Pcdhb7 |
A |
G |
18: 37,475,434 (GRCm39) |
D190G |
probably damaging |
Het |
Pik3c2b |
T |
C |
1: 133,012,725 (GRCm39) |
|
probably null |
Het |
Plcz1 |
T |
A |
6: 139,985,484 (GRCm39) |
Q19L |
possibly damaging |
Het |
Prag1 |
A |
G |
8: 36,571,069 (GRCm39) |
N551D |
probably benign |
Het |
Rb1cc1 |
G |
A |
1: 6,310,189 (GRCm39) |
V196I |
probably damaging |
Het |
Rnf113a2 |
T |
C |
12: 84,464,270 (GRCm39) |
V54A |
probably benign |
Het |
Sec14l1 |
G |
A |
11: 117,044,102 (GRCm39) |
E537K |
probably damaging |
Het |
Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
Shtn1 |
T |
A |
19: 59,026,735 (GRCm39) |
I119F |
probably damaging |
Het |
Szt2 |
A |
G |
4: 118,266,358 (GRCm39) |
|
probably null |
Het |
Tasp1 |
T |
C |
2: 139,819,567 (GRCm39) |
D212G |
probably benign |
Het |
Tmpo |
A |
G |
10: 90,994,608 (GRCm39) |
|
probably null |
Het |
Usp17lb |
T |
C |
7: 104,489,718 (GRCm39) |
K403R |
probably benign |
Het |
Vcpip1 |
A |
G |
1: 9,816,019 (GRCm39) |
V788A |
probably benign |
Het |
Wdr25 |
C |
A |
12: 108,864,613 (GRCm39) |
H253N |
probably benign |
Het |
Wwc2 |
G |
A |
8: 48,328,360 (GRCm39) |
S367L |
probably damaging |
Het |
Zfr |
A |
G |
15: 12,162,292 (GRCm39) |
E814G |
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 |
|
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 |
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'- CCACTACGGCTTGAGGAATC -3'
(R):5'- ATTGACAAGTGAGTCCAGAAGC -3'
Sequencing Primer
(F):5'- CTTGAGGAATCCAGAGCTATGGCC -3'
(R):5'- TGAGTCCAGAAGCTGTCCATG -3'
|
Posted On |
2022-08-09 |