Incidental Mutation 'R5981:Hid1'
ID |
481421 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hid1
|
Ensembl Gene |
ENSMUSG00000034586 |
Gene Name |
HID1 domain containing |
Synonyms |
C630004H02Rik |
MMRRC Submission |
043250-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.175)
|
Stock # |
R5981 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
115238533-115258582 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 115241774 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 612
(T612I)
|
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 benign
Transcript: ENSMUST00000044152
AA Change: T611I
PolyPhen 2
Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000043789 Gene: ENSMUSG00000034586 AA Change: T611I
Domain | Start | End | E-Value | Type |
Pfam:Dymeclin
|
1 |
763 |
3.9e-242 |
PFAM |
Pfam:Hid1
|
1 |
784 |
3.1e-260 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106542
AA Change: T612I
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000102152 Gene: ENSMUSG00000034586 AA Change: T612I
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 |
probably benign
Transcript: ENSMUST00000123428
|
SMART Domains |
Protein: ENSMUSP00000121914 Gene: ENSMUSG00000034586
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: ENSMUST00000146256
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153447
|
Meta Mutation Damage Score |
0.2792 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm2 |
T |
C |
3: 59,659,299 (GRCm39) |
Y251H |
probably benign |
Het |
Ccr3 |
G |
A |
9: 123,828,820 (GRCm39) |
G52S |
probably damaging |
Het |
Cep192 |
T |
C |
18: 67,993,661 (GRCm39) |
L1992P |
probably damaging |
Het |
Cnot1 |
T |
C |
8: 96,515,293 (GRCm39) |
K23E |
probably damaging |
Het |
Col12a1 |
G |
A |
9: 79,585,788 (GRCm39) |
R1224C |
probably damaging |
Het |
Cox7c |
A |
T |
13: 86,194,780 (GRCm39) |
S5R |
possibly damaging |
Het |
Eps8 |
A |
G |
6: 137,459,208 (GRCm39) |
V765A |
probably damaging |
Het |
Frg1 |
T |
C |
8: 41,863,307 (GRCm39) |
D104G |
possibly damaging |
Het |
Gm11032 |
T |
C |
11: 4,571,697 (GRCm39) |
V34A |
probably benign |
Het |
Hivep1 |
C |
T |
13: 42,313,664 (GRCm39) |
T1968I |
probably damaging |
Het |
Mctp1 |
A |
G |
13: 76,905,229 (GRCm39) |
D444G |
probably damaging |
Het |
Ms4a1 |
T |
C |
19: 11,229,180 (GRCm39) |
E242G |
probably benign |
Het |
Mx1 |
T |
C |
16: 97,255,405 (GRCm39) |
D216G |
probably damaging |
Het |
Panx3 |
A |
G |
9: 37,580,177 (GRCm39) |
S59P |
possibly damaging |
Het |
Pcdhgb1 |
A |
G |
18: 37,814,907 (GRCm39) |
D466G |
probably damaging |
Het |
Plg |
T |
C |
17: 12,597,605 (GRCm39) |
|
probably null |
Het |
Prpf4b |
T |
C |
13: 35,070,693 (GRCm39) |
S427P |
probably benign |
Het |
Rbm44 |
T |
C |
1: 91,080,411 (GRCm39) |
S166P |
possibly damaging |
Het |
Recql |
A |
G |
6: 142,318,604 (GRCm39) |
L213P |
probably damaging |
Het |
Rwdd1 |
A |
G |
10: 33,885,081 (GRCm39) |
Y60H |
probably damaging |
Het |
Sult1b1 |
A |
C |
5: 87,682,816 (GRCm39) |
I43R |
probably damaging |
Het |
Trak2 |
A |
T |
1: 58,947,849 (GRCm39) |
V597E |
probably benign |
Het |
Usp17lb |
T |
A |
7: 104,490,394 (GRCm39) |
I177F |
probably damaging |
Het |
Zfp410 |
A |
G |
12: 84,378,414 (GRCm39) |
E193G |
probably benign |
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 |
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'- ATCTCAGTTCTGAGCCCTGC -3'
(R):5'- TAAACGTGCGGTCTTCCACC -3'
Sequencing Primer
(F):5'- AGTTCTGAGCCCTGCCCATG -3'
(R):5'- ACCAGCTGGCCAACCTG -3'
|
Posted On |
2017-06-26 |