Mutagenetix > Incidental Mutation

Incidental Mutation 'R0533:Hid1'

49335

Institutional Source

Beutler Lab

Gene Symbol

Hid1

Ensembl Gene

ENSMUSG00000034586

Gene Name

HID1 domain containing

Synonyms

C630004H02Rik

MMRRC Submission

038725-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R0533 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115347707-115367756 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115348809 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 765 (I765N)

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 damaging
Transcript: ENSMUST00000044152
AA Change: I764N

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

SMART Domains

Protein: ENSMUSP00000043789
Gene: ENSMUSG00000034586
AA Change: I764N

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: I765N

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

SMART Domains

Protein: ENSMUSP00000102152
Gene: ENSMUSG00000034586
AA Change: I765N

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

noncoding transcript
Transcript: ENSMUST00000146256

Meta Mutation Damage Score

0.8257

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	G	8: 60,531,763		probably benign	Het
Abcb1b	A	T	5: 8,864,113		probably null	Het
Adcy10	A	G	1: 165,564,023	N1283S	probably benign	Het
Adgrb1	T	A	15: 74,541,559	W531R	probably damaging	Het
Ago4	A	G	4: 126,516,860	V246A	probably benign	Het
Arid5b	A	T	10: 68,186,033	D242E	probably damaging	Het
Arpp21	A	G	9: 112,126,505	V522A	probably benign	Het
Atg4b	T	A	1: 93,784,910		probably benign	Het
Capn12	T	C	7: 28,887,683	F359S	possibly damaging	Het
Ccdc88c	A	T	12: 100,954,282	I360N	probably damaging	Het
Clic3	A	G	2: 25,458,138	Y99C	probably damaging	Het
Cux1	T	C	5: 136,307,859	E925G	probably damaging	Het
Dnah10	G	A	5: 124,775,250		probably null	Het
Dnah17	A	G	11: 118,110,537	V860A	possibly damaging	Het
Etv5	C	T	16: 22,436,075		probably benign	Het
Fam83a	T	A	15: 58,009,811	N345K	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gm13089	G	T	4: 143,698,020	C284*	probably null	Het
Gpm6a	A	G	8: 55,055,374		probably null	Het
Grid1	T	A	14: 35,309,385	Y312N	possibly damaging	Het
Gstm4	T	C	3: 108,043,525	N51S	probably benign	Het
Hmmr	A	G	11: 40,709,989	V518A	unknown	Het
Itgb6	A	G	2: 60,669,197	V84A	probably benign	Het
Kbtbd4	A	G	2: 90,907,604	K233E	probably benign	Het
Kif15	A	T	9: 123,009,433		probably benign	Het
Klre1	T	C	6: 129,583,193	S143P	probably damaging	Het
Krt81	T	C	15: 101,461,389	D216G	probably benign	Het
Mctp2	G	T	7: 72,080,822	H868Q	probably benign	Het
Morc2b	G	C	17: 33,135,932	Y955*	probably null	Het
Myog	A	C	1: 134,290,473	N140H	possibly damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Neil3	A	T	8: 53,638,775		probably null	Het
Nrg1	T	C	8: 31,831,245		probably null	Het
Olfr681	G	A	7: 105,122,350	V298I	probably benign	Het
Olfr689	A	T	7: 105,314,372	M123L	probably benign	Het
Olfr99	A	T	17: 37,280,291	L43*	probably null	Het
Pramef25	A	T	4: 143,950,720	D96E	possibly damaging	Het
Ptger2	T	A	14: 44,988,982	N6K	possibly damaging	Het
Ryr1	T	A	7: 29,078,780	E2097V	probably damaging	Het
Sel1l	A	T	12: 91,820,094	F397Y	probably damaging	Het
Skint5	A	G	4: 113,827,867	V551A	unknown	Het
Slc39a12	A	G	2: 14,400,331	T245A	probably benign	Het
Syne1	C	T	10: 5,358,438	V706I	probably benign	Het
Tbc1d8	G	T	1: 39,372,774	Q994K	possibly damaging	Het
Tnrc6b	C	T	15: 80,876,653	T187I	probably benign	Het
Ttll6	G	A	11: 96,154,756	A600T	probably benign	Het
Ust	T	C	10: 8,248,080		probably benign	Het
Vmn2r71	GT	GTT	7: 85,619,218		probably null	Het
Vstm2a	C	T	11: 16,263,041	A142V	probably damaging	Het
Wfs1	T	A	5: 36,973,722		probably benign	Het
Wrap73	G	A	4: 154,151,649	G145D	probably damaging	Het
Wrap73	G	A	4: 154,156,154	V368M	possibly damaging	Het
Xrra1	T	A	7: 99,875,145		probably null	Het
Zfhx2	C	T	14: 55,064,090	V2146I	probably benign	Het
Zfp335	A	T	2: 164,907,922	L185*	probably null	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
R1027:Hid1	UTSW	11	115355425	missense	probably damaging	1.00
R1069:Hid1	UTSW	11	115356765	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'- ACCTGATGCCTCACTCTGGGTAATG -3'
(R):5'- TCTTGTCCTGGAAGTCAAAGCTGC -3'

Sequencing Primer
(F):5'- CCTCACTCTGGGTAATGAGTGC -3'
(R):5'- CTGCATTGACAAGTGAGTCC -3'

Posted On

2013-06-12