Mutagenetix > Incidental Mutation

Incidental Mutation 'R1069:Hid1'

86134

Institutional Source

Beutler Lab

Gene Symbol

Hid1

Ensembl Gene

ENSMUSG00000034586

Gene Name

HID1 domain containing

Synonyms

C630004H02Rik

MMRRC Submission

039155-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R1069 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115347707-115367756 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115356765 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 269 (N269S)

Ref Sequence

ENSEMBL: ENSMUSP00000102152 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044152] [ENSMUST00000106542]

AlphaFold

Q8R1F6

Predicted Effect

probably damaging
Transcript: ENSMUST00000044152
AA Change: N268S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000043789
Gene: ENSMUSG00000034586
AA Change: N268S

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: N269S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102152
Gene: ENSMUSG00000034586
AA Change: N269S

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: N180S

SMART Domains

Protein: ENSMUSP00000121914
Gene: ENSMUSG00000034586
AA Change: N180S

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

0.5760

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.4%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610203C20Rik	G	A	9: 41,590,298	R151H	possibly damaging	Het
4921524L21Rik	A	G	18: 6,624,037	N106S	probably benign	Het
Akr1c21	C	A	13: 4,575,334		probably benign	Het
Alpk2	G	A	18: 65,305,014	R1570C	probably benign	Het
Atp8b3	G	A	10: 80,531,018	R249C	probably damaging	Het
Cacnb4	C	A	2: 52,455,611	R252I	probably damaging	Het
Cars	T	C	7: 143,570,107	T480A	probably benign	Het
Ccnf	A	T	17: 24,223,997	C745*	probably null	Het
Ccr8	A	G	9: 120,094,217	I133V	probably benign	Het
Cndp1	G	A	18: 84,634,652		probably benign	Het
Dgkq	T	C	5: 108,656,037		probably benign	Het
Ecd	A	G	14: 20,333,436	C312R	probably damaging	Het
Epp13	A	T	7: 6,255,922		probably null	Het
Gstm1	T	C	3: 108,012,748	S226G	probably damaging	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Hacd4	T	A	4: 88,437,502	I49L	probably damaging	Het
Ifitm3	A	T	7: 141,009,900		probably benign	Het
Kctd9	C	T	14: 67,729,420		probably benign	Het
Kif20b	T	C	19: 34,950,851	L1131P	probably damaging	Het
Kif2c	T	C	4: 117,178,153	T33A	probably damaging	Het
Lipc	T	C	9: 70,823,537	T38A	probably benign	Het
Lrguk	A	C	6: 34,048,883	I205L	possibly damaging	Het
Ncapg	T	A	5: 45,675,930		probably benign	Het
Ptprd	A	G	4: 75,998,487		probably benign	Het
Ptprd	T	A	4: 76,100,633	K635*	probably null	Het
Sap130	G	A	18: 31,711,629	V898I	probably damaging	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Svep1	C	T	4: 58,070,239	G2516R	probably damaging	Het
Tas2r131	C	T	6: 132,957,825	R7K	probably benign	Het
Tfpi	A	G	2: 84,453,792		probably benign	Het
Trim80	T	C	11: 115,448,083	C580R	probably damaging	Het
Ttn	T	A	2: 76,969,929	I312F	unknown	Het

Other mutations in Hid1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Hid1	APN	11	115359069	missense	probably benign	0.05
IGL00783:Hid1	APN	11	115348510	missense	probably damaging	1.00
IGL00935:Hid1	APN	11	115348498	missense	probably damaging	1.00
IGL02081:Hid1	APN	11	115348506	missense	possibly damaging	0.94
IGL02383:Hid1	APN	11	115352620	missense	probably damaging	1.00
IGL02637:Hid1	APN	11	115350595	missense	probably damaging	0.97
IGL03174:Hid1	APN	11	115360389	missense	probably damaging	1.00
R0124:Hid1	UTSW	11	115356823	missense	probably damaging	1.00
R0533:Hid1	UTSW	11	115348809	missense	probably damaging	1.00
R1027:Hid1	UTSW	11	115355425	missense	probably damaging	1.00
R1171:Hid1	UTSW	11	115352717	missense	probably benign
R1583:Hid1	UTSW	11	115356750	missense	possibly damaging	0.51
R1689:Hid1	UTSW	11	115360357	missense	probably damaging	1.00
R1746:Hid1	UTSW	11	115354638	missense	probably damaging	0.98
R1772:Hid1	UTSW	11	115348473	missense	probably damaging	0.97
R1773:Hid1	UTSW	11	115348510	missense	probably damaging	1.00
R1831:Hid1	UTSW	11	115348903	missense	probably damaging	1.00
R2234:Hid1	UTSW	11	115351119	missense	probably damaging	1.00
R2235:Hid1	UTSW	11	115351119	missense	probably damaging	1.00
R2897:Hid1	UTSW	11	115350530	missense	probably benign
R2898:Hid1	UTSW	11	115350530	missense	probably benign
R3711:Hid1	UTSW	11	115358775	missense	probably damaging	1.00
R4059:Hid1	UTSW	11	115356739	missense	probably damaging	1.00
R4394:Hid1	UTSW	11	115367642	utr 5 prime	probably benign
R4478:Hid1	UTSW	11	115361655	missense	probably damaging	1.00
R4552:Hid1	UTSW	11	115358679	missense	possibly damaging	0.94
R4822:Hid1	UTSW	11	115355299	missense	probably damaging	1.00
R5691:Hid1	UTSW	11	115348819	missense	probably damaging	1.00
R5980:Hid1	UTSW	11	115350948	missense	possibly damaging	0.64
R5981:Hid1	UTSW	11	115350948	missense	possibly damaging	0.64
R6363:Hid1	UTSW	11	115352596	missense	probably damaging	1.00
R6577:Hid1	UTSW	11	115354636	missense	possibly damaging	0.89
R7191:Hid1	UTSW	11	115348469	makesense	probably null
R7307:Hid1	UTSW	11	115348482	missense	probably damaging	1.00
R7484:Hid1	UTSW	11	115352581	splice site	probably null
R7485:Hid1	UTSW	11	115354719	missense	probably damaging	1.00
R7836:Hid1	UTSW	11	115358995	missense	probably damaging	0.96
R7883:Hid1	UTSW	11	115354609	missense	probably damaging	1.00
R7904:Hid1	UTSW	11	115355361	missense	probably damaging	1.00
R8765:Hid1	UTSW	11	115348960	critical splice acceptor site	probably null
R9269:Hid1	UTSW	11	115361676	missense	probably damaging	0.99
R9598:Hid1	UTSW	11	115348912	missense	probably damaging	1.00
R9604:Hid1	UTSW	11	115352640	missense
R9727:Hid1	UTSW	11	115355113	missense	probably damaging	1.00
X0025:Hid1	UTSW	11	115348803	nonsense	probably null
X0066:Hid1	UTSW	11	115354725	missense	probably damaging	1.00
Z1177:Hid1	UTSW	11	115352725	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTAATGGAGATACCATCTGCCCC -3'
(R):5'- GTGTGTGACCCCAAGAACTGAGAAG -3'

Sequencing Primer
(F):5'- CCCAGCCATCTCCCCATC -3'
(R):5'- ACAGCTCCCtggctgtg -3'

Posted On

2013-11-18