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: 0.218)
|
| Stock # |
R1583 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
115347707-115367756 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 115356750 bp (GRCm38)
|
| 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: 76,882,681 (GRCm38) |
S691P |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,226,831 (GRCm38) |
|
probably null |
Het |
| Ankar |
A |
G |
1: 72,679,555 (GRCm38) |
|
probably benign |
Het |
| Aplf |
A |
T |
6: 87,646,033 (GRCm38) |
Y355N |
probably damaging |
Het |
| Bms1 |
A |
G |
6: 118,389,389 (GRCm38) |
|
probably benign |
Het |
| Catsperb |
T |
C |
12: 101,463,114 (GRCm38) |
I182T |
probably damaging |
Het |
| Cd300ld2 |
T |
C |
11: 115,013,777 (GRCm38) |
D88G |
probably benign |
Het |
| Cebpz |
T |
C |
17: 78,934,752 (GRCm38) |
N491S |
probably damaging |
Het |
| Crybg2 |
T |
C |
4: 134,081,459 (GRCm38) |
S1415P |
probably damaging |
Het |
| Ddc |
A |
G |
11: 11,829,131 (GRCm38) |
V331A |
probably benign |
Het |
| Decr2 |
T |
C |
17: 26,083,024 (GRCm38) |
E244G |
probably damaging |
Het |
| Dhrs11 |
A |
G |
11: 84,823,117 (GRCm38) |
M136T |
probably damaging |
Het |
| Eapp |
G |
A |
12: 54,685,948 (GRCm38) |
Q126* |
probably null |
Het |
| Fam111a |
T |
A |
19: 12,587,778 (GRCm38) |
V297D |
probably damaging |
Het |
| Fam84a |
G |
A |
12: 14,150,408 (GRCm38) |
A106V |
probably benign |
Het |
| Fbxo10 |
A |
C |
4: 45,062,118 (GRCm38) |
L136R |
probably damaging |
Het |
| Fbxo30 |
T |
A |
10: 11,291,374 (GRCm38) |
H613Q |
possibly damaging |
Het |
| Frk |
A |
T |
10: 34,591,810 (GRCm38) |
|
probably null |
Het |
| Gm10392 |
T |
A |
11: 77,517,481 (GRCm38) |
D104V |
probably benign |
Het |
| Gm960 |
T |
A |
19: 4,652,171 (GRCm38) |
K282N |
probably damaging |
Het |
| Gpn1 |
A |
G |
5: 31,497,338 (GRCm38) |
E78G |
possibly damaging |
Het |
| Hhip |
T |
C |
8: 79,990,276 (GRCm38) |
Y506C |
probably damaging |
Het |
| Immp2l |
G |
T |
12: 41,703,765 (GRCm38) |
|
probably benign |
Het |
| Klhl21 |
T |
C |
4: 152,009,624 (GRCm38) |
F228L |
possibly damaging |
Het |
| Lamc1 |
T |
A |
1: 153,243,478 (GRCm38) |
|
probably null |
Het |
| Lars |
G |
A |
18: 42,210,050 (GRCm38) |
R1101C |
probably damaging |
Het |
| Magi2 |
T |
C |
5: 19,227,332 (GRCm38) |
V15A |
probably benign |
Het |
| Map2k7 |
T |
C |
8: 4,243,621 (GRCm38) |
|
probably null |
Het |
| Mga |
T |
A |
2: 119,963,960 (GRCm38) |
H2590Q |
possibly damaging |
Het |
| Mlxip |
T |
C |
5: 123,450,223 (GRCm38) |
I238T |
possibly damaging |
Het |
| Mylk |
T |
A |
16: 34,875,586 (GRCm38) |
D230E |
probably benign |
Het |
| Nacad |
T |
A |
11: 6,601,185 (GRCm38) |
T669S |
probably benign |
Het |
| Nin |
C |
T |
12: 70,031,738 (GRCm38) |
M1691I |
probably benign |
Het |
| Nlrp4d |
C |
T |
7: 10,382,237 (GRCm38) |
A203T |
probably damaging |
Het |
| Olfr1204 |
T |
G |
2: 88,852,262 (GRCm38) |
F104C |
probably damaging |
Het |
| Olfr1301 |
A |
T |
2: 111,754,425 (GRCm38) |
M59L |
probably damaging |
Het |
| Olfr1495 |
A |
T |
19: 13,768,510 (GRCm38) |
H56L |
probably benign |
Het |
| Olfr201 |
A |
G |
16: 59,269,031 (GRCm38) |
V212A |
probably benign |
Het |
| Olfr433 |
T |
C |
1: 174,042,480 (GRCm38) |
F177L |
probably benign |
Het |
| Olfr729 |
C |
A |
14: 50,148,774 (GRCm38) |
M33I |
probably benign |
Het |
| Osbp |
C |
A |
19: 11,977,829 (GRCm38) |
Q282K |
probably benign |
Het |
| Osbpl2 |
A |
G |
2: 180,148,463 (GRCm38) |
S177G |
probably damaging |
Het |
| Pax1 |
A |
G |
2: 147,366,255 (GRCm38) |
H261R |
possibly damaging |
Het |
| Pcif1 |
A |
T |
2: 164,886,727 (GRCm38) |
L274F |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,117,825 (GRCm38) |
S3420P |
probably benign |
Het |
| Prss3 |
A |
C |
6: 41,377,627 (GRCm38) |
|
probably benign |
Het |
| Ptk2b |
T |
C |
14: 66,163,114 (GRCm38) |
T751A |
possibly damaging |
Het |
| Pus10 |
T |
C |
11: 23,673,239 (GRCm38) |
V126A |
probably damaging |
Het |
| Rai14 |
A |
C |
15: 10,587,916 (GRCm38) |
D258E |
probably damaging |
Het |
| Rbp3 |
T |
C |
14: 33,954,524 (GRCm38) |
V143A |
possibly damaging |
Het |
| Sarm1 |
G |
A |
11: 78,483,327 (GRCm38) |
Q625* |
probably null |
Het |
| Scgb1b21 |
T |
G |
7: 33,527,667 (GRCm38) |
|
noncoding transcript |
Het |
| Scrn1 |
A |
T |
6: 54,520,769 (GRCm38) |
V279E |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 125,421,895 (GRCm38) |
T1670A |
probably damaging |
Het |
| Slc9a4 |
A |
T |
1: 40,600,962 (GRCm38) |
I305F |
probably benign |
Het |
| Smarcc1 |
A |
G |
9: 110,213,617 (GRCm38) |
T918A |
probably damaging |
Het |
| Tas2r109 |
A |
T |
6: 132,980,426 (GRCm38) |
H180Q |
probably benign |
Het |
| Tas2r121 |
G |
A |
6: 132,700,230 (GRCm38) |
R260* |
probably null |
Het |
| Tenm3 |
T |
C |
8: 48,279,074 (GRCm38) |
D1249G |
probably benign |
Het |
| Tgtp1 |
C |
G |
11: 48,987,530 (GRCm38) |
G116A |
probably damaging |
Het |
| Tial1 |
A |
G |
7: 128,443,910 (GRCm38) |
Y317H |
probably damaging |
Het |
| Trim66 |
A |
T |
7: 109,455,080 (GRCm38) |
W1308R |
probably damaging |
Het |
| Ulk2 |
T |
G |
11: 61,783,545 (GRCm38) |
K878N |
possibly damaging |
Het |
| Zfp41 |
T |
A |
15: 75,618,291 (GRCm38) |
S31T |
possibly damaging |
Het |
|
| Other mutations in Hid1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00321:Hid1
|
APN |
11 |
115,359,069 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL00783:Hid1
|
APN |
11 |
115,348,510 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00935:Hid1
|
APN |
11 |
115,348,498 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02081:Hid1
|
APN |
11 |
115,348,506 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02383:Hid1
|
APN |
11 |
115,352,620 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02637:Hid1
|
APN |
11 |
115,350,595 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03174:Hid1
|
APN |
11 |
115,360,389 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0124:Hid1
|
UTSW |
11 |
115,356,823 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0533:Hid1
|
UTSW |
11 |
115,348,809 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1027:Hid1
|
UTSW |
11 |
115,355,425 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1069:Hid1
|
UTSW |
11 |
115,356,765 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1171:Hid1
|
UTSW |
11 |
115,352,717 (GRCm38) |
missense |
probably benign |
|
|
R1689:Hid1
|
UTSW |
11 |
115,360,357 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1746:Hid1
|
UTSW |
11 |
115,354,638 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1772:Hid1
|
UTSW |
11 |
115,348,473 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1773:Hid1
|
UTSW |
11 |
115,348,510 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1831:Hid1
|
UTSW |
11 |
115,348,903 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2234:Hid1
|
UTSW |
11 |
115,351,119 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2235:Hid1
|
UTSW |
11 |
115,351,119 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2897:Hid1
|
UTSW |
11 |
115,350,530 (GRCm38) |
missense |
probably benign |
|
|
R2898:Hid1
|
UTSW |
11 |
115,350,530 (GRCm38) |
missense |
probably benign |
|
|
R3711:Hid1
|
UTSW |
11 |
115,358,775 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4059:Hid1
|
UTSW |
11 |
115,356,739 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4394:Hid1
|
UTSW |
11 |
115,367,642 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R4478:Hid1
|
UTSW |
11 |
115,361,655 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4552:Hid1
|
UTSW |
11 |
115,358,679 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4822:Hid1
|
UTSW |
11 |
115,355,299 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5691:Hid1
|
UTSW |
11 |
115,348,819 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5980:Hid1
|
UTSW |
11 |
115,350,948 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R5981:Hid1
|
UTSW |
11 |
115,350,948 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R6363:Hid1
|
UTSW |
11 |
115,352,596 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6577:Hid1
|
UTSW |
11 |
115,354,636 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R7191:Hid1
|
UTSW |
11 |
115,348,469 (GRCm38) |
makesense |
probably null |
|
|
R7307:Hid1
|
UTSW |
11 |
115,348,482 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7484:Hid1
|
UTSW |
11 |
115,352,581 (GRCm38) |
splice site |
probably null |
|
|
R7485:Hid1
|
UTSW |
11 |
115,354,719 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7836:Hid1
|
UTSW |
11 |
115,358,995 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7883:Hid1
|
UTSW |
11 |
115,354,609 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7904:Hid1
|
UTSW |
11 |
115,355,361 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8765:Hid1
|
UTSW |
11 |
115,348,960 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9269:Hid1
|
UTSW |
11 |
115,361,676 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9598:Hid1
|
UTSW |
11 |
115,348,912 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9604:Hid1
|
UTSW |
11 |
115,352,640 (GRCm38) |
missense |
|
|
|
R9727:Hid1
|
UTSW |
11 |
115,355,113 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0025:Hid1
|
UTSW |
11 |
115,348,803 (GRCm38) |
nonsense |
probably null |
|
|
X0066:Hid1
|
UTSW |
11 |
115,354,725 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Hid1
|
UTSW |
11 |
115,352,725 (GRCm38) |
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 |
Incidental Mutation