Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00935:Hid1'

28542

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hid1

Ensembl Gene

ENSMUSG00000034586

Gene Name

HID1 domain containing

Synonyms

C630004H02Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

IGL00935

Quality Score

Status

Chromosome

Chromosomal Location

115238533-115258582 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 115239324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 780 (V780M)

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: V779M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043789
Gene: ENSMUSG00000034586
AA Change: V779M

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: V780M

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

SMART Domains

Protein: ENSMUSP00000102152
Gene: ENSMUSG00000034586
AA Change: V780M

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Camk2g	C	T	14: 20,787,398 (GRCm39)	G500S	probably damaging	Het
Fbn1	C	A	2: 125,219,830 (GRCm39)	G666*	probably null	Het
Gcc2	T	A	10: 58,114,601 (GRCm39)		probably benign	Het
Gigyf1	T	G	5: 137,523,096 (GRCm39)	S866A	possibly damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Lcn2	A	G	2: 32,277,590 (GRCm39)		probably null	Het
Nav3	T	C	10: 109,541,527 (GRCm39)	D1912G	probably benign	Het
Prox2	T	C	12: 85,134,703 (GRCm39)	N526S	probably damaging	Het
Svep1	C	A	4: 58,090,664 (GRCm39)	R1601L	possibly damaging	Het
Trp63	C	T	16: 25,689,826 (GRCm39)	T427M	probably damaging	Het
Unc80	A	G	1: 66,666,425 (GRCm39)	N1871S	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
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
R1583:Hid1	UTSW	11	115,247,576 (GRCm39)	missense	possibly damaging	0.51
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

Posted On

2013-04-17