Mutagenetix > Incidental Mutation

Incidental Mutation 'R5191:Havcr1'

398177

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

043263-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5191 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46630644-46670405 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46647024 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 153 (I153F)

Ref Sequence

ENSEMBL: ENSMUSP00000043827 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000047568
AA Change: I153F

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000043827
Gene: ENSMUSG00000040405
AA Change: I153F

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: I153F

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000080503
Gene: ENSMUSG00000040405
AA Change: I153F

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: I153F

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104846
Gene: ENSMUSG00000040405
AA Change: I153F

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: ENSMUST00000109224
AA Change: I153F

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000104847
Gene: ENSMUSG00000040405
AA Change: I153F

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

100% (69/69)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvrl1	A	G	15: 101,034,946 (GRCm39)	E235G	probably damaging	Het
Adam26b	T	C	8: 43,973,028 (GRCm39)	D658G	probably damaging	Het
Adamts12	A	G	15: 11,327,843 (GRCm39)	R1407G	probably benign	Het
Aknad1	T	C	3: 108,659,306 (GRCm39)	S107P	probably benign	Het
Aknad1	G	A	3: 108,659,867 (GRCm39)	V294I	probably benign	Het
Arfgef2	A	G	2: 166,718,431 (GRCm39)	T1407A	probably damaging	Het
Atp5f1a	C	T	18: 77,867,929 (GRCm39)	P318S	probably damaging	Het
Atp9a	C	T	2: 168,503,983 (GRCm39)	V494M	possibly damaging	Het
Ccdc69	A	T	11: 54,943,719 (GRCm39)		probably null	Het
Crh	T	C	3: 19,748,093 (GRCm39)	E183G	probably damaging	Het
Cyp2c40	A	C	19: 39,791,035 (GRCm39)	N265K	probably damaging	Het
D630003M21Rik	C	T	2: 158,042,955 (GRCm39)	A862T	probably benign	Het
Dact3	T	G	7: 16,609,375 (GRCm39)	V9G	probably damaging	Het
Dnaaf9	A	T	2: 130,579,323 (GRCm39)	I638N	possibly damaging	Het
Dnah8	A	G	17: 30,965,739 (GRCm39)	E2357G	probably damaging	Het
Dzip1	C	T	14: 119,148,805 (GRCm39)	M291I	probably damaging	Het
Etl4	G	T	2: 20,344,810 (GRCm39)	S38I	probably damaging	Het
Fyb2	G	T	4: 104,852,994 (GRCm39)	C558F	possibly damaging	Het
Galnt3	T	C	2: 65,924,050 (GRCm39)	E406G	probably damaging	Het
Golga3	T	A	5: 110,332,173 (GRCm39)		probably benign	Het
Gpr179	T	A	11: 97,228,975 (GRCm39)	Q1060L	possibly damaging	Het
Hnrnpc	A	T	14: 52,314,964 (GRCm39)	V141E	probably damaging	Het
Kcnj2	C	T	11: 110,963,297 (GRCm39)	Q230*	probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Limch1	T	C	5: 67,184,904 (GRCm39)	L631P	probably damaging	Het
Lpin1	T	C	12: 16,630,829 (GRCm39)	N23S	possibly damaging	Het
Macf1	A	G	4: 123,366,755 (GRCm39)	S1104P	probably benign	Het
Man2b1	A	G	8: 85,811,088 (GRCm39)	D73G	probably damaging	Het
Marf1	A	G	16: 13,963,942 (GRCm39)	F454L	probably damaging	Het
Mcpt4	T	A	14: 56,298,466 (GRCm39)	I90L	probably benign	Het
Mfsd4b5	T	C	10: 39,846,668 (GRCm39)	E304G	probably damaging	Het
Mst1r	G	A	9: 107,788,750 (GRCm39)	R423H	probably damaging	Het
Muc20	G	A	16: 32,614,846 (GRCm39)	S177L	unknown	Het
Muc5b	A	G	7: 141,412,276 (GRCm39)	T1741A	unknown	Het
Myo1g	C	T	11: 6,465,105 (GRCm39)	A447T	probably benign	Het
Nr1h2	C	A	7: 44,199,840 (GRCm39)	A360S	probably damaging	Het
Nufip1	A	G	14: 76,349,429 (GRCm39)	K154E	probably damaging	Het
Or12k8	T	G	2: 36,974,990 (GRCm39)	M257L	probably benign	Het
Or2a54	T	A	6: 43,092,800 (GRCm39)	N41K	probably damaging	Het
Or7e166	G	A	9: 19,624,630 (GRCm39)	C169Y	probably damaging	Het
Pecr	A	T	1: 72,314,136 (GRCm39)		probably null	Het
Pkd2	G	A	5: 104,634,547 (GRCm39)	R526Q	probably benign	Het
Plec	T	C	15: 76,059,365 (GRCm39)	E3551G	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sarm1	G	A	11: 78,387,945 (GRCm39)	Q114*	probably null	Het
Sec31a	T	C	5: 100,553,370 (GRCm39)	E112G	possibly damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc9a2	G	T	1: 40,783,053 (GRCm39)	R439L	probably damaging	Het
Sptb	C	A	12: 76,659,608 (GRCm39)	E1097D	probably benign	Het
Stk38	A	C	17: 29,193,344 (GRCm39)	C362G	probably benign	Het
Stmn2	A	T	3: 8,610,635 (GRCm39)	M40L	probably benign	Het
Sytl2	A	T	7: 90,024,860 (GRCm39)	T283S	probably damaging	Het
Tcf4	A	G	18: 69,775,954 (GRCm39)	S48G	probably damaging	Het
Tlr4	A	T	4: 66,759,616 (GRCm39)	H803L	probably damaging	Het
Ttn	C	T	2: 76,709,432 (GRCm39)		probably benign	Het
Tyk2	G	T	9: 21,018,793 (GRCm39)	Q1099K	probably damaging	Het
Usp30	C	T	5: 114,203,755 (GRCm39)		probably benign	Het
Vmn1r175	A	G	7: 23,508,447 (GRCm39)	V60A	possibly damaging	Het
Zc3h12d	C	A	10: 7,743,582 (GRCm39)	P451T	possibly damaging	Het
Zeb2	T	C	2: 44,892,612 (GRCm39)	S146G	probably benign	Het
Zfp236	T	A	18: 82,639,548 (GRCm39)	N1233I	probably damaging	Het
Zfp954	A	G	7: 7,119,022 (GRCm39)	V174A	probably damaging	Het
Zswim1	G	A	2: 164,667,939 (GRCm39)	S397N	probably benign	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
R0488:Havcr1	UTSW	11	46,643,398 (GRCm39)	missense	probably damaging	1.00
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
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'- ACCCTGCCATATCCTAGTCG -3'
(R):5'- CAACCGTGTGTGAATACAGC -3'

Sequencing Primer
(F):5'- CTGCCATATCCTAGTCGATAAGAAG -3'
(R):5'- AATCACAGGCCTGGTAACTG -3'

Posted On

2016-07-06