Incidental Mutation 'R1583:Hid1'
ID |
177272 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hid1
|
Ensembl Gene |
ENSMUSG00000034586 |
Gene Name |
HID1 domain containing |
Synonyms |
C630004H02Rik |
MMRRC Submission |
039620-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.167)
|
Stock # |
R1583 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
115238533-115258582 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 115247576 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 274
(S274L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102152
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044152]
[ENSMUST00000106542]
|
AlphaFold |
Q8R1F6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044152
AA Change: S273L
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000043789 Gene: ENSMUSG00000034586 AA Change: S273L
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: S274L
PolyPhen 2
Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000102152 Gene: ENSMUSG00000034586 AA Change: S274L
Domain | Start | End | E-Value | Type |
Pfam:Dymeclin
|
1 |
764 |
7.5e-275 |
PFAM |
Pfam:Hid1
|
1 |
785 |
2.3e-261 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000123428
AA Change: S185L
|
SMART Domains |
Protein: ENSMUSP00000121914 Gene: ENSMUSG00000034586 AA Change: S185L
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.8%
|
Validation Efficiency |
99% (79/80) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
G |
5: 77,030,528 (GRCm39) |
S691P |
probably benign |
Het |
Adgrb3 |
T |
C |
1: 25,265,912 (GRCm39) |
|
probably null |
Het |
Ankar |
A |
G |
1: 72,718,714 (GRCm39) |
|
probably benign |
Het |
Aplf |
A |
T |
6: 87,623,015 (GRCm39) |
Y355N |
probably damaging |
Het |
Bms1 |
A |
G |
6: 118,366,350 (GRCm39) |
|
probably benign |
Het |
Catsperb |
T |
C |
12: 101,429,373 (GRCm39) |
I182T |
probably damaging |
Het |
Cd300ld2 |
T |
C |
11: 114,904,603 (GRCm39) |
D88G |
probably benign |
Het |
Cebpz |
T |
C |
17: 79,242,181 (GRCm39) |
N491S |
probably damaging |
Het |
Crybg2 |
T |
C |
4: 133,808,770 (GRCm39) |
S1415P |
probably damaging |
Het |
Ddc |
A |
G |
11: 11,779,131 (GRCm39) |
V331A |
probably benign |
Het |
Decr2 |
T |
C |
17: 26,301,998 (GRCm39) |
E244G |
probably damaging |
Het |
Dhrs11 |
A |
G |
11: 84,713,943 (GRCm39) |
M136T |
probably damaging |
Het |
Eapp |
G |
A |
12: 54,732,733 (GRCm39) |
Q126* |
probably null |
Het |
Fam111a |
T |
A |
19: 12,565,142 (GRCm39) |
V297D |
probably damaging |
Het |
Fbxo10 |
A |
C |
4: 45,062,118 (GRCm39) |
L136R |
probably damaging |
Het |
Fbxo30 |
T |
A |
10: 11,167,118 (GRCm39) |
H613Q |
possibly damaging |
Het |
Frk |
A |
T |
10: 34,467,806 (GRCm39) |
|
probably null |
Het |
Gm10392 |
T |
A |
11: 77,408,307 (GRCm39) |
D104V |
probably benign |
Het |
Gpn1 |
A |
G |
5: 31,654,682 (GRCm39) |
E78G |
possibly damaging |
Het |
Hhip |
T |
C |
8: 80,716,905 (GRCm39) |
Y506C |
probably damaging |
Het |
Immp2l |
G |
T |
12: 41,750,548 (GRCm39) |
|
probably benign |
Het |
Klhl21 |
T |
C |
4: 152,094,081 (GRCm39) |
F228L |
possibly damaging |
Het |
Lamc1 |
T |
A |
1: 153,119,224 (GRCm39) |
|
probably null |
Het |
Lars1 |
G |
A |
18: 42,343,115 (GRCm39) |
R1101C |
probably damaging |
Het |
Lratd1 |
G |
A |
12: 14,200,409 (GRCm39) |
A106V |
probably benign |
Het |
Magi2 |
T |
C |
5: 19,432,330 (GRCm39) |
V15A |
probably benign |
Het |
Map2k7 |
T |
C |
8: 4,293,621 (GRCm39) |
|
probably null |
Het |
Mga |
T |
A |
2: 119,794,441 (GRCm39) |
H2590Q |
possibly damaging |
Het |
Mlxip |
T |
C |
5: 123,588,286 (GRCm39) |
I238T |
possibly damaging |
Het |
Mylk |
T |
A |
16: 34,695,956 (GRCm39) |
D230E |
probably benign |
Het |
Nacad |
T |
A |
11: 6,551,185 (GRCm39) |
T669S |
probably benign |
Het |
Nin |
C |
T |
12: 70,078,512 (GRCm39) |
M1691I |
probably benign |
Het |
Nlrp4d |
C |
T |
7: 10,116,164 (GRCm39) |
A203T |
probably damaging |
Het |
Or10aa1 |
T |
C |
1: 173,870,046 (GRCm39) |
F177L |
probably benign |
Het |
Or10q12 |
A |
T |
19: 13,745,874 (GRCm39) |
H56L |
probably benign |
Het |
Or4c106 |
T |
G |
2: 88,682,606 (GRCm39) |
F104C |
probably damaging |
Het |
Or4k5 |
C |
A |
14: 50,386,231 (GRCm39) |
M33I |
probably benign |
Het |
Or4k51 |
A |
T |
2: 111,584,770 (GRCm39) |
M59L |
probably damaging |
Het |
Or5ac19 |
A |
G |
16: 59,089,394 (GRCm39) |
V212A |
probably benign |
Het |
Osbp |
C |
A |
19: 11,955,193 (GRCm39) |
Q282K |
probably benign |
Het |
Osbpl2 |
A |
G |
2: 179,790,256 (GRCm39) |
S177G |
probably damaging |
Het |
Pax1 |
A |
G |
2: 147,208,175 (GRCm39) |
H261R |
possibly damaging |
Het |
Pcif1 |
A |
T |
2: 164,728,647 (GRCm39) |
L274F |
probably damaging |
Het |
Pkhd1 |
A |
G |
1: 20,188,049 (GRCm39) |
S3420P |
probably benign |
Het |
Prss3 |
A |
C |
6: 41,354,561 (GRCm39) |
|
probably benign |
Het |
Ptk2b |
T |
C |
14: 66,400,563 (GRCm39) |
T751A |
possibly damaging |
Het |
Pus10 |
T |
C |
11: 23,623,239 (GRCm39) |
V126A |
probably damaging |
Het |
Rai14 |
A |
C |
15: 10,588,002 (GRCm39) |
D258E |
probably damaging |
Het |
Rbp3 |
T |
C |
14: 33,676,481 (GRCm39) |
V143A |
possibly damaging |
Het |
Sarm1 |
G |
A |
11: 78,374,153 (GRCm39) |
Q625* |
probably null |
Het |
Scgb1b21 |
T |
G |
7: 33,227,092 (GRCm39) |
|
noncoding transcript |
Het |
Scrn1 |
A |
T |
6: 54,497,754 (GRCm39) |
V279E |
probably damaging |
Het |
Sipa1l2 |
T |
C |
8: 126,148,634 (GRCm39) |
T1670A |
probably damaging |
Het |
Slc9a4 |
A |
T |
1: 40,640,122 (GRCm39) |
I305F |
probably benign |
Het |
Smarcc1 |
A |
G |
9: 110,042,685 (GRCm39) |
T918A |
probably damaging |
Het |
Tas2r109 |
A |
T |
6: 132,957,389 (GRCm39) |
H180Q |
probably benign |
Het |
Tas2r121 |
G |
A |
6: 132,677,193 (GRCm39) |
R260* |
probably null |
Het |
Tenm3 |
T |
C |
8: 48,732,109 (GRCm39) |
D1249G |
probably benign |
Het |
Tgtp1 |
C |
G |
11: 48,878,357 (GRCm39) |
G116A |
probably damaging |
Het |
Tial1 |
A |
G |
7: 128,045,634 (GRCm39) |
Y317H |
probably damaging |
Het |
Top6bl |
T |
A |
19: 4,702,199 (GRCm39) |
K282N |
probably damaging |
Het |
Trim66 |
A |
T |
7: 109,054,287 (GRCm39) |
W1308R |
probably damaging |
Het |
Ulk2 |
T |
G |
11: 61,674,371 (GRCm39) |
K878N |
possibly damaging |
Het |
Zfp41 |
T |
A |
15: 75,490,140 (GRCm39) |
S31T |
possibly 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 |
|
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 |
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'- GTGCTAATGGAGATACCATCTGCCC -3'
(R):5'- GTGTGTGACCCCAAGAACTGAGAAG -3'
Sequencing Primer
(F):5'- GATACCATCTGCCCCCCAG -3'
(R):5'- ACAGCTCCCtggctgtg -3'
|
Posted On |
2014-04-24 |