Incidental Mutation 'R7191:Hid1'
| ID |
559609 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hid1
|
| Ensembl Gene |
ENSMUSG00000034586 |
| Gene Name |
HID1 domain containing |
| Synonyms |
C630004H02Rik |
| MMRRC Submission |
045274-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R7191 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
115238533-115258582 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to C
at 115239295 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 789
(*789W)
|
| 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 null
Transcript: ENSMUST00000044152
AA Change: *788W
|
| SMART Domains |
Protein: ENSMUSP00000043789
Gene: ENSMUSG00000034586
AA Change: *788W
| 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 null
Transcript: ENSMUST00000106542
AA Change: *789W
|
| SMART Domains |
Protein: ENSMUSP00000102152
Gene: ENSMUSG00000034586
AA Change: *789W
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510009E07Rik |
T |
A |
16: 21,472,314 (GRCm39) |
I129F |
probably benign |
Het |
| Actmap |
G |
A |
7: 26,900,548 (GRCm39) |
A176T |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,740,041 (GRCm39) |
T1948S |
unknown |
Het |
| Arap1 |
T |
C |
7: 101,034,199 (GRCm39) |
C214R |
probably benign |
Het |
| Ccdc82 |
C |
T |
9: 13,252,097 (GRCm39) |
Q130* |
probably null |
Het |
| Cfh |
A |
C |
1: 140,040,305 (GRCm39) |
V597G |
probably benign |
Het |
| Clp1 |
A |
T |
2: 84,554,490 (GRCm39) |
C226* |
probably null |
Het |
| Cyp39a1 |
G |
A |
17: 44,041,910 (GRCm39) |
W372* |
probably null |
Het |
| Dchs1 |
G |
A |
7: 105,414,646 (GRCm39) |
P799S |
possibly damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,646,250 (GRCm39) |
N167I |
unknown |
Het |
| Dock10 |
A |
G |
1: 80,518,048 (GRCm39) |
S1310P |
possibly damaging |
Het |
| Fam83h |
C |
T |
15: 75,874,886 (GRCm39) |
G817D |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,762,771 (GRCm39) |
T758A |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,230,255 (GRCm39) |
H1634R |
probably damaging |
Het |
| Gcg |
C |
G |
2: 62,307,183 (GRCm39) |
G126A |
probably damaging |
Het |
| Get1 |
A |
G |
16: 95,953,145 (GRCm39) |
I79V |
possibly damaging |
Het |
| Gne |
T |
C |
4: 44,040,266 (GRCm39) |
K633E |
probably benign |
Het |
| Gpr4 |
T |
C |
7: 18,957,155 (GRCm39) |
V359A |
probably benign |
Het |
| Gprc5c |
C |
T |
11: 114,759,443 (GRCm39) |
T422M |
possibly damaging |
Het |
| Gria2 |
C |
A |
3: 80,639,392 (GRCm39) |
V207L |
probably benign |
Het |
| Iigp1c |
A |
T |
18: 60,379,329 (GRCm39) |
D288V |
probably benign |
Het |
| Jakmip3 |
G |
A |
7: 138,591,257 (GRCm39) |
|
probably null |
Het |
| Kin |
G |
A |
2: 10,096,604 (GRCm39) |
R151Q |
probably benign |
Het |
| Krt16 |
T |
C |
11: 100,137,484 (GRCm39) |
E407G |
probably damaging |
Het |
| Krt81 |
T |
C |
15: 101,358,110 (GRCm39) |
D381G |
probably damaging |
Het |
| Lrrc34 |
C |
T |
3: 30,679,027 (GRCm39) |
G357S |
possibly damaging |
Het |
| Lypd11 |
C |
T |
7: 24,422,759 (GRCm39) |
V105I |
possibly damaging |
Het |
| Mipol1 |
A |
G |
12: 57,503,852 (GRCm39) |
Q340R |
probably benign |
Het |
| Mpzl3 |
T |
G |
9: 44,966,542 (GRCm39) |
M1R |
probably null |
Het |
| Nrcam |
A |
G |
12: 44,619,027 (GRCm39) |
N852S |
probably benign |
Het |
| Nudcd2 |
C |
T |
11: 40,627,430 (GRCm39) |
Q117* |
probably null |
Het |
| Nup35 |
A |
T |
2: 80,488,723 (GRCm39) |
E320V |
probably damaging |
Het |
| Olfml3 |
T |
C |
3: 103,643,176 (GRCm39) |
K402E |
probably damaging |
Het |
| Or5p56 |
G |
A |
7: 107,589,853 (GRCm39) |
V94M |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,628,943 (GRCm39) |
H668R |
probably benign |
Het |
| Ptprc |
T |
A |
1: 138,028,782 (GRCm39) |
D333V |
probably benign |
Het |
| Rdh16 |
A |
G |
10: 127,649,287 (GRCm39) |
K248E |
probably benign |
Het |
| Samd4b |
C |
A |
7: 28,113,686 (GRCm39) |
G93V |
probably benign |
Het |
| Scgn |
A |
G |
13: 24,165,476 (GRCm39) |
I78T |
probably benign |
Het |
| Slfn14 |
T |
C |
11: 83,167,575 (GRCm39) |
I647V |
probably benign |
Het |
| Smyd5 |
T |
C |
6: 85,417,093 (GRCm39) |
V157A |
probably benign |
Het |
| Syde2 |
T |
C |
3: 145,708,113 (GRCm39) |
M951T |
probably benign |
Het |
| Tas2r105 |
T |
C |
6: 131,663,945 (GRCm39) |
N161S |
probably damaging |
Het |
| Tbck |
T |
C |
3: 132,443,316 (GRCm39) |
F581L |
probably damaging |
Het |
| Traip |
A |
G |
9: 107,847,216 (GRCm39) |
N352D |
probably benign |
Het |
| Trim29 |
A |
G |
9: 43,222,906 (GRCm39) |
Y245C |
probably damaging |
Het |
| Trpv4 |
T |
C |
5: 114,771,201 (GRCm39) |
I443V |
probably benign |
Het |
| Usp36 |
C |
T |
11: 118,159,660 (GRCm39) |
E595K |
probably benign |
Het |
| Vmn2r51 |
T |
A |
7: 9,834,480 (GRCm39) |
Y186F |
probably null |
Het |
| Vmn2r97 |
A |
G |
17: 19,150,548 (GRCm39) |
Y465C |
probably damaging |
Het |
| Zfp277 |
A |
T |
12: 40,379,561 (GRCm39) |
H324Q |
probably damaging |
Het |
| Zfp987 |
A |
G |
4: 146,058,473 (GRCm39) |
D17G |
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 |
|
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'- CAAGAGGCTCCTAGAACAGC -3'
(R):5'- TACCCAGAGTGAGGCATCAG -3'
Sequencing Primer
(F):5'- TCCTAGAACAGCCTGGAGG -3'
(R):5'- CCAGAGTGAGGCATCAGGTTGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation