Mutagenetix > Incidental Mutation

Incidental Mutation 'R0488:Havcr1'

42420

Institutional Source

Beutler Lab

Gene Symbol

Havcr1

Ensembl Gene

ENSMUSG00000040405

Gene Name

hepatitis A virus cellular receptor 1

Synonyms

Timd1, Tim1, TIM-1, KIM-1

MMRRC Submission

038687-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0488 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46630644-46670405 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46643398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 106 (Y106C)

Ref Sequence

ENSEMBL: ENSMUSP00000104847 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047568] [ENSMUST00000081819] [ENSMUST00000109223] [ENSMUST00000109224]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000047568
AA Change: Y106C

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

SMART Domains

Protein: ENSMUSP00000043827
Gene: ENSMUSG00000040405
AA Change: Y106C

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 damaging
Transcript: ENSMUST00000081819
AA Change: Y106C

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

SMART Domains

Protein: ENSMUSP00000080503
Gene: ENSMUSG00000040405
AA Change: Y106C

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 damaging
Transcript: ENSMUST00000109223
AA Change: Y106C

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

SMART Domains

Protein: ENSMUSP00000104846
Gene: ENSMUSG00000040405
AA Change: Y106C

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 damaging
Transcript: ENSMUST00000109224
AA Change: Y106C

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

SMART Domains

Protein: ENSMUSP00000104847
Gene: ENSMUSG00000040405
AA Change: Y106C

Domain	Start	End	E-Value	Type
IG	22	128	4.82e-6	SMART
low complexity region	132	152	N/A	INTRINSIC

Meta Mutation Damage Score

0.7756

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.2%

Validation Efficiency

100% (54/54)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	G	11: 46,029,757 (GRCm39)	L734R	probably damaging	Het
Adgrf1	T	C	17: 43,621,302 (GRCm39)	I513T	probably damaging	Het
Adgrl2	A	G	3: 148,552,541 (GRCm39)	V654A	probably damaging	Het
Agl	A	T	3: 116,548,611 (GRCm39)	Y1249*	probably null	Het
Ankar	T	A	1: 72,697,891 (GRCm39)	Q996H	probably damaging	Het
Aqp12	T	C	1: 92,936,378 (GRCm39)	Y235H	probably damaging	Het
Arsb	T	C	13: 94,077,013 (GRCm39)	V460A	probably benign	Het
Baiap3	A	G	17: 25,467,444 (GRCm39)		probably null	Het
Cd44	T	C	2: 102,664,564 (GRCm39)		probably benign	Het
Clec4b1	T	A	6: 123,048,441 (GRCm39)	I192N	probably damaging	Het
Cplane2	A	G	4: 140,941,712 (GRCm39)	D14G	probably benign	Het
Cps1	A	C	1: 67,187,967 (GRCm39)		probably benign	Het
Dab2	T	C	15: 6,454,135 (GRCm39)	L215S	probably damaging	Het
E2f4	G	A	8: 106,025,171 (GRCm39)	V84I	probably damaging	Het
Edem2	T	C	2: 155,558,043 (GRCm39)	T197A	probably damaging	Het
Eno2	T	A	6: 124,740,837 (GRCm39)	M121L	probably benign	Het
Ephb1	A	G	9: 101,841,207 (GRCm39)	V757A	probably damaging	Het
Etv5	T	A	16: 22,231,695 (GRCm39)	I106F	probably damaging	Het
Foxj3	T	A	4: 119,477,187 (GRCm39)	Y298*	probably null	Het
Gm12185	A	G	11: 48,798,666 (GRCm39)	L609S	probably damaging	Het
Gm5884	T	C	6: 128,623,031 (GRCm39)		noncoding transcript	Het
Jmjd1c	A	G	10: 67,076,506 (GRCm39)	N2110S	probably damaging	Het
Kif2b	T	C	11: 91,467,798 (GRCm39)	K162E	probably benign	Het
Micu2	T	C	14: 58,169,699 (GRCm39)	Y217C	probably benign	Het
Mink1	G	T	11: 70,488,030 (GRCm39)	G32C	probably damaging	Het
Mnat1	T	A	12: 73,217,413 (GRCm39)	N96K	probably damaging	Het
Mpp2	G	T	11: 101,952,427 (GRCm39)	R349S	possibly damaging	Het
Mrpl13	T	A	15: 55,402,544 (GRCm39)	I59F	probably benign	Het
Mybl2	T	C	2: 162,914,534 (GRCm39)		probably benign	Het
Otogl	T	C	10: 107,639,466 (GRCm39)	E1382G	probably benign	Het
Pclo	A	G	5: 14,719,313 (GRCm39)	E1150G	unknown	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Pkd1l3	G	A	8: 110,350,295 (GRCm39)	S380N	probably benign	Het
Pla2g4a	G	A	1: 149,747,196 (GRCm39)	T322M	probably damaging	Het
Pramel11	A	T	4: 143,621,973 (GRCm39)	Y461N	probably benign	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Ptprg	A	T	14: 12,220,653 (GRCm38)	D455V	probably damaging	Het
Ptprt	T	C	2: 161,395,745 (GRCm39)	T1162A	probably damaging	Het
Rad51ap1	T	C	6: 126,911,723 (GRCm39)	N55D	possibly damaging	Het
Rc3h2	T	C	2: 37,279,600 (GRCm39)	E543G	probably damaging	Het
Rimklb	G	A	6: 122,437,934 (GRCm39)	T103I	probably benign	Het
Samd4b	T	C	7: 28,113,662 (GRCm39)	Y101C	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Tubgcp5	T	A	7: 55,479,086 (GRCm39)	S979T	probably damaging	Het
Vmn2r93	G	A	17: 18,546,311 (GRCm39)	E728K	probably damaging	Het
Wdr17	T	C	8: 55,146,087 (GRCm39)		probably benign	Het
Wdr90	T	C	17: 26,067,591 (GRCm39)	Y1457C	probably damaging	Het
Wsb1	T	C	11: 79,135,326 (GRCm39)	D225G	probably damaging	Het
Xirp2	T	C	2: 67,345,165 (GRCm39)	S2469P	possibly damaging	Het
Zeb1	T	A	18: 5,772,455 (GRCm39)	C915S	probably damaging	Het
Znfx1	C	A	2: 166,884,483 (GRCm39)	R923L	possibly damaging	Het

Other mutations in Havcr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02119:Havcr1	APN	11	46,666,320 (GRCm39)	missense	probably damaging	1.00
IGL02207:Havcr1	APN	11	46,669,403 (GRCm39)	missense	probably benign	0.28
R0355:Havcr1	UTSW	11	46,647,051 (GRCm39)	missense	possibly damaging	0.91
R0371:Havcr1	UTSW	11	46,643,416 (GRCm39)	missense	possibly damaging	0.95
R0883:Havcr1	UTSW	11	46,643,259 (GRCm39)	missense	probably damaging	1.00
R1307:Havcr1	UTSW	11	46,647,097 (GRCm39)	missense	probably damaging	0.99
R1308:Havcr1	UTSW	11	46,647,097 (GRCm39)	missense	probably damaging	0.99
R1554:Havcr1	UTSW	11	46,643,334 (GRCm39)	missense	probably benign
R1908:Havcr1	UTSW	11	46,664,511 (GRCm39)	nonsense	probably null
R2165:Havcr1	UTSW	11	46,669,379 (GRCm39)	missense	probably benign	0.14
R3085:Havcr1	UTSW	11	46,647,052 (GRCm39)	missense	probably damaging	0.99
R3757:Havcr1	UTSW	11	46,643,407 (GRCm39)	missense	probably damaging	1.00
R4719:Havcr1	UTSW	11	46,643,268 (GRCm39)	missense	probably benign	0.02
R5191:Havcr1	UTSW	11	46,647,024 (GRCm39)	missense	probably benign	0.40
R5440:Havcr1	UTSW	11	46,643,197 (GRCm39)	missense	probably damaging	1.00
R5710:Havcr1	UTSW	11	46,643,353 (GRCm39)	missense	probably damaging	1.00
R5988:Havcr1	UTSW	11	46,646,964 (GRCm39)	missense	probably damaging	1.00
R7570:Havcr1	UTSW	11	46,661,369 (GRCm39)	critical splice donor site	probably null
R7962:Havcr1	UTSW	11	46,643,402 (GRCm39)	nonsense	probably null
R8953:Havcr1	UTSW	11	46,647,006 (GRCm39)	missense	possibly damaging	0.91
R9259:Havcr1	UTSW	11	46,661,318 (GRCm39)	missense	probably damaging	1.00
R9424:Havcr1	UTSW	11	46,669,391 (GRCm39)	missense	probably benign
R9576:Havcr1	UTSW	11	46,669,391 (GRCm39)	missense	probably benign
Z1177:Havcr1	UTSW	11	46,666,325 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- TCACAGGCGCTGTGGATTCTTATG -3'
(R):5'- AAGGTGGTCCCACGTACAGTTAGG -3'

Sequencing Primer
(F):5'- TGGGTCACCCTGTCACAC -3'
(R):5'- CCCACGTACAGTTAGGACATGG -3'

Posted On

2013-05-23