Mutagenetix > Incidental Mutations

Incidental Mutation 'R7191:Hid1'

559609

Institutional Source

Beutler Lab

Gene Symbol

Hid1

Ensembl Gene

ENSMUSG00000034586

Gene Name

HID1 domain containing

Synonyms

C630004H02Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R7191 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115347707-115367756 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 115348469 bp

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 789 (*789W)

Ref Sequence

ENSEMBL: ENSMUSP00000102152 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019006] [ENSMUST00000044152] [ENSMUST00000106542] [ENSMUST00000106543]

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 null
Transcript: ENSMUST00000044152
AA Change: *788W

SMART Domains

Protein: ENSMUSP00000043789
Gene: ENSMUSG00000034586
AA Change: *788W

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 null
Transcript: ENSMUST00000106542
AA Change: *789W

SMART Domains

Protein: ENSMUSP00000102152
Gene: ENSMUSG00000034586
AA Change: *789W

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	T	A	16: 21,653,564	I129F	probably benign	Het
Ank2	T	A	3: 126,946,392	T1948S	unknown	Het
Arap1	T	C	7: 101,384,992	C214R	probably benign	Het
BC024978	G	A	7: 27,201,123	A176T	probably damaging	Het
Ccdc82	C	T	9: 13,252,472	Q130*	probably null	Het
Cfh	A	C	1: 140,112,567	V597G	probably benign	Het
Clp1	A	T	2: 84,724,146	C226*	probably null	Het
Cyp39a1	G	A	17: 43,731,019	W372*	probably null	Het
Dchs1	G	A	7: 105,765,439	P799S	possibly damaging	Het
Dmbt1	A	T	7: 131,044,520	N167I	unknown	Het
Dock10	A	G	1: 80,540,331	S1310P	possibly damaging	Het
Fam83h	C	T	15: 76,003,037	G817D	probably damaging	Het
Fras1	A	G	5: 96,614,912	T758A	probably benign	Het
Fryl	T	C	5: 73,072,912	H1634R	probably damaging	Het
Gcg	C	G	2: 62,476,839	G126A	probably damaging	Het
Gm4763	C	T	7: 24,723,334	V105I	possibly damaging	Het
Gm4951	A	T	18: 60,246,257	D288V	probably benign	Het
Gne	T	C	4: 44,040,266	K633E	probably benign	Het
Gpr4	T	C	7: 19,223,230	V359A	probably benign	Het
Gprc5c	C	T	11: 114,868,617	T422M	possibly damaging	Het
Gria2	C	A	3: 80,732,085	V207L	probably benign	Het
Jakmip3	G	A	7: 138,989,528		probably null	Het
Kin	G	A	2: 10,091,793	R151Q	probably benign	Het
Krt16	T	C	11: 100,246,658	E407G	probably damaging	Het
Krt81	T	C	15: 101,460,229	D381G	probably damaging	Het
Lrrc34	C	T	3: 30,624,878	G357S	possibly damaging	Het
Mipol1	A	G	12: 57,457,066	Q340R	probably benign	Het
Mpzl3	T	G	9: 45,055,244	M1R	probably null	Het
Nrcam	A	G	12: 44,572,244	N852S	probably benign	Het
Nudcd2	C	T	11: 40,736,603	Q117*	probably null	Het
Nup35	A	T	2: 80,658,379	E320V	probably damaging	Het
Olfml3	T	C	3: 103,735,860	K402E	probably damaging	Het
Olfr477	G	A	7: 107,990,646	V94M	possibly damaging	Het
Pkhd1	T	C	1: 20,558,719	H668R	probably benign	Het
Ptprc	T	A	1: 138,101,044	D333V	probably benign	Het
Rdh16	A	G	10: 127,813,418	K248E	probably benign	Het
Samd4b	C	A	7: 28,414,261	G93V	probably benign	Het
Scgn	A	G	13: 23,981,493	I78T	probably benign	Het
Slfn14	T	C	11: 83,276,749	I647V	probably benign	Het
Smyd5	T	C	6: 85,440,111	V157A	probably benign	Het
Syde2	T	C	3: 146,002,358	M951T	probably benign	Het
Tas2r105	T	C	6: 131,686,982	N161S	probably damaging	Het
Tbck	T	C	3: 132,737,555	F581L	probably damaging	Het
Traip	A	G	9: 107,970,017	N352D	probably benign	Het
Trim29	A	G	9: 43,311,609	Y245C	probably damaging	Het
Trpv4	T	C	5: 114,633,140	I443V	probably benign	Het
Usp36	C	T	11: 118,268,834	E595K	probably benign	Het
Vmn2r51	T	A	7: 10,100,553	Y186F	probably null	Het
Vmn2r97	A	G	17: 18,930,286	Y465C	probably damaging	Het
Wrb	A	G	16: 96,151,945	I79V	possibly damaging	Het
Zfp277	A	T	12: 40,329,562	H324Q	probably damaging	Het
Zfp987	A	G	4: 146,121,903	D17G	probably damaging	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
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
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
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'- CAAGAGGCTCCTAGAACAGC -3'
(R):5'- TACCCAGAGTGAGGCATCAG -3'

Sequencing Primer
(F):5'- TCCTAGAACAGCCTGGAGG -3'
(R):5'- CCAGAGTGAGGCATCAGGTTGG -3'

Posted On

2019-06-26