Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02119:Havcr1'

280506

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Havcr1

Ensembl Gene

ENSMUSG00000040405

Gene Name

hepatitis A virus cellular receptor 1

Synonyms

KIM-1, Tim1, TIM-1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02119

Quality Score

Status

Chromosome

Chromosomal Location

46735080-46779578 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46775493 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 261 (Y261C)

Ref Sequence

ENSEMBL: ENSMUSP00000043827 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047568] [ENSMUST00000081819] [ENSMUST00000109223]

Predicted Effect

probably damaging
Transcript: ENSMUST00000047568
AA Change: Y261C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000043827
Gene: ENSMUSG00000040405
AA Change: Y261C

Domain	Start	End	E-Value	Type
IG	22	128	4.82e-6	SMART
low complexity region	132	152	N/A	INTRINSIC
low complexity region	154	177	N/A	INTRINSIC
transmembrane domain	237	259	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000081819
AA Change: Y238C

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000080503
Gene: ENSMUSG00000040405
AA Change: Y238C

Domain	Start	End	E-Value	Type
IG	22	128	4.82e-6	SMART
low complexity region	132	152	N/A	INTRINSIC
low complexity region	154	177	N/A	INTRINSIC
transmembrane domain	214	236	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109223
AA Change: Y238C

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104846
Gene: ENSMUSG00000040405
AA Change: Y238C

Domain	Start	End	E-Value	Type
IG	22	128	4.82e-6	SMART
low complexity region	132	152	N/A	INTRINSIC
low complexity region	154	177	N/A	INTRINSIC
transmembrane domain	214	236	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal response to S. mansoni egg challenge. Mice homozygous for an allele lacking the mucin domain display impaired regulatory B cell function and systemic autoimmunity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,328,000		probably null	Het
Acsbg2	T	C	17: 56,868,459		probably benign	Het
Ap3b1	T	C	13: 94,462,403	V495A	probably benign	Het
Astn1	T	C	1: 158,511,154		probably benign	Het
Bora	A	G	14: 99,053,538	D94G	probably damaging	Het
Bpifb9b	G	T	2: 154,313,624	V348L	possibly damaging	Het
Cd160	A	T	3: 96,808,823	I17N	possibly damaging	Het
Cyp2d11	A	C	15: 82,390,064	I372S	probably damaging	Het
Dennd2c	T	A	3: 103,137,243	V380D	probably damaging	Het
Fat4	C	T	3: 38,982,939	A3580V	probably benign	Het
Filip1	A	G	9: 79,818,266	S1024P	probably benign	Het
Flnc	G	A	6: 29,447,512	E1105K	probably damaging	Het
Gbp4	T	A	5: 105,121,042	E415V	probably benign	Het
Gdap1l1	T	A	2: 163,453,668	F224Y	probably damaging	Het
Gm11146	A	T	16: 77,588,610		probably null	Het
Gsn	G	T	2: 35,302,495	R485L	probably damaging	Het
Maneal	A	T	4: 124,859,167	I229N	probably benign	Het
Med24	A	T	11: 98,728,835	M27K	probably benign	Het
Nipsnap2	T	A	5: 129,747,992		probably benign	Het
Noa1	T	A	5: 77,307,579	Q430L	probably benign	Het
Olfr1099	T	C	2: 86,959,183	I92V	probably benign	Het
Olfr365	C	A	2: 37,201,269	S9R	possibly damaging	Het
Olfr74	T	A	2: 87,974,410	N85I	probably benign	Het
Olfr834	T	C	9: 18,988,612	V208A	probably benign	Het
Pde3a	T	A	6: 141,459,803	S460R	probably damaging	Het
Pdzd8	T	C	19: 59,300,490	Q826R	possibly damaging	Het
Pfkfb4	C	T	9: 109,025,110	R351W	probably damaging	Het
Pikfyve	T	A	1: 65,272,571	I1989N	probably damaging	Het
Poldip2	T	A	11: 78,517,908	F200I	probably damaging	Het
Prodh2	T	C	7: 30,506,504	V208A	probably damaging	Het
Ranbp10	T	C	8: 105,827,003	D89G	probably damaging	Het
Rbm33	T	A	5: 28,339,017	S90R	probably damaging	Het
Slc44a4	A	C	17: 34,928,661	D441A	probably damaging	Het
Slc4a10	A	T	2: 62,228,670	I174F	probably damaging	Het
Smim17	T	C	7: 6,427,161		probably benign	Het
Tln1	T	C	4: 43,546,760	E872G	probably damaging	Het
Tmem214	G	A	5: 30,872,746	A296T	probably benign	Het
Top2b	T	C	14: 16,406,733	L625S	probably damaging	Het
Vmn2r59	A	G	7: 42,046,169	V273A	probably benign	Het
Vmn2r9	G	A	5: 108,843,636	L620F	probably damaging	Het
Whrn	T	G	4: 63,435,487	K348Q	probably damaging	Het
Zc3h14	T	C	12: 98,763,895	V399A	probably benign	Het

Other mutations in Havcr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02207:Havcr1	APN	11	46778576	missense	probably benign	0.28
R0355:Havcr1	UTSW	11	46756224	missense	possibly damaging	0.91
R0371:Havcr1	UTSW	11	46752589	missense	possibly damaging	0.95
R0488:Havcr1	UTSW	11	46752571	missense	probably damaging	1.00
R0883:Havcr1	UTSW	11	46752432	missense	probably damaging	1.00
R1307:Havcr1	UTSW	11	46756270	missense	probably damaging	0.99
R1308:Havcr1	UTSW	11	46756270	missense	probably damaging	0.99
R1554:Havcr1	UTSW	11	46752507	missense	probably benign
R1908:Havcr1	UTSW	11	46773684	nonsense	probably null
R2165:Havcr1	UTSW	11	46778552	missense	probably benign	0.14
R3085:Havcr1	UTSW	11	46756225	missense	probably damaging	0.99
R3757:Havcr1	UTSW	11	46752580	missense	probably damaging	1.00
R4719:Havcr1	UTSW	11	46752441	missense	probably benign	0.02
R5191:Havcr1	UTSW	11	46756197	missense	probably benign	0.40
R5440:Havcr1	UTSW	11	46752370	missense	probably damaging	1.00
R5710:Havcr1	UTSW	11	46752526	missense	probably damaging	1.00
R5988:Havcr1	UTSW	11	46756137	missense	probably damaging	1.00
R7570:Havcr1	UTSW	11	46770542	critical splice donor site	probably null
R7962:Havcr1	UTSW	11	46752575	nonsense	probably null
R8953:Havcr1	UTSW	11	46756179	missense	possibly damaging	0.91
Z1177:Havcr1	UTSW	11	46775498	missense	probably benign	0.25

Posted On

2015-04-16