Mutagenetix > Incidental Mutation

Incidental Mutation 'R2165:Havcr1'

235443

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

040168-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2165 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

46630644-46670405 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46669379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 286 (N286S)

Ref Sequence

ENSEMBL: ENSMUSP00000043827 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000047568
AA Change: N286S

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000043827
Gene: ENSMUSG00000040405
AA Change: N286S

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: N263S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000080503
Gene: ENSMUSG00000040405
AA Change: N263S

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: N263S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000104846
Gene: ENSMUSG00000040405
AA Change: N263S

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

Meta Mutation Damage Score

0.0778

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

99% (71/72)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,906,048 (GRCm39)	T806A	possibly damaging	Het
Adgre1	T	G	17: 57,726,338 (GRCm39)	L403R	probably damaging	Het
Alox12	A	T	11: 70,133,398 (GRCm39)		probably null	Het
Ankib1	A	T	5: 3,763,210 (GRCm39)	D506E	possibly damaging	Het
Ascc3	T	G	10: 50,597,935 (GRCm39)	Y1268D	probably damaging	Het
Bik	A	G	15: 83,425,624 (GRCm39)	M42V	probably benign	Het
Bola1	A	T	3: 96,104,517 (GRCm39)	S26T	probably benign	Het
Bub1	T	C	2: 127,643,201 (GRCm39)	I1048V	probably benign	Het
Cad	A	G	5: 31,219,564 (GRCm39)	N621S	probably damaging	Het
Camkv	C	A	9: 107,822,799 (GRCm39)	N69K	possibly damaging	Het
Ccdc110	T	C	8: 46,395,876 (GRCm39)	M589T	probably benign	Het
Ccdc154	T	A	17: 25,389,864 (GRCm39)	V498E	probably damaging	Het
Ccr1l1	A	G	9: 123,777,691 (GRCm39)	L252P	probably damaging	Het
Cdh1	T	C	8: 107,390,953 (GRCm39)	C690R	probably damaging	Het
Cfap157	T	G	2: 32,668,175 (GRCm39)		probably null	Het
Cux2	A	G	5: 122,025,540 (GRCm39)	S43P	possibly damaging	Het
Cyb5rl	C	T	4: 106,925,880 (GRCm39)	P21S	probably damaging	Het
Cyp51	T	G	5: 4,136,594 (GRCm39)	Q400P	probably damaging	Het
Dnah7b	T	C	1: 46,137,152 (GRCm39)		probably benign	Het
Efcab3	G	A	11: 104,642,688 (GRCm39)	V1104I	possibly damaging	Het
Ephb4	A	G	5: 137,352,688 (GRCm39)	I90M	probably benign	Het
Fam13c	A	G	10: 70,378,523 (GRCm39)	N269S	probably damaging	Het
Fam83c	T	A	2: 155,673,444 (GRCm39)	Y248F	possibly damaging	Het
Fat2	A	G	11: 55,194,542 (GRCm39)	F1166L	probably benign	Het
Fem1a	A	G	17: 56,564,686 (GRCm39)	N260D	probably benign	Het
Fnbp4	T	A	2: 90,597,743 (GRCm39)		probably null	Het
Fut9	T	A	4: 25,619,733 (GRCm39)	*360Y	probably null	Het
Fut9	T	A	4: 25,619,734 (GRCm39)	*360L	probably null	Het
Gm3727	T	A	14: 7,264,625 (GRCm38)	Q10L	probably damaging	Het
Gpat2	G	A	2: 127,270,211 (GRCm39)	V75M	probably damaging	Het
Haspin	A	C	11: 73,027,456 (GRCm39)	N544K	probably damaging	Het
Lrp6	A	C	6: 134,436,246 (GRCm39)	C1307G	probably damaging	Het
Lrrc2	A	C	9: 110,808,645 (GRCm39)	H294P	possibly damaging	Het
Mettl25b	A	T	3: 87,834,360 (GRCm39)		probably null	Het
Mon2	A	C	10: 122,878,269 (GRCm39)		probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mrgprb1	T	C	7: 48,097,070 (GRCm39)	I281V	probably benign	Het
Muc4	A	G	16: 32,569,294 (GRCm39)	E118G	probably damaging	Het
Nefh	T	C	11: 4,893,872 (GRCm39)	D394G	probably damaging	Het
Neurl4	A	G	11: 69,794,047 (GRCm39)	T168A	probably benign	Het
Or10s1	A	G	9: 39,986,211 (GRCm39)	N207D	possibly damaging	Het
Or1j18	T	A	2: 36,624,713 (GRCm39)	C127S	probably damaging	Het
Or51a10	T	C	7: 103,698,845 (GRCm39)	T239A	probably benign	Het
Or5ak4	A	T	2: 85,161,446 (GRCm39)	N265K	probably benign	Het
Oxsr1	A	C	9: 119,123,498 (GRCm39)	M92R	probably damaging	Het
Pde8a	T	C	7: 80,945,516 (GRCm39)		probably null	Het
Pex5l	T	A	3: 33,007,281 (GRCm39)		probably null	Het
Pik3r4	T	A	9: 105,549,984 (GRCm39)	M1025K	probably benign	Het
Plch1	C	T	3: 63,605,903 (GRCm39)	E1325K	probably benign	Het
Plin2	A	T	4: 86,586,669 (GRCm39)	V54E	probably damaging	Het
Prss47	A	T	13: 65,192,887 (GRCm39)	I298N	probably damaging	Het
Prune2	A	G	19: 17,097,546 (GRCm39)	R1017G	probably benign	Het
Psg19	T	A	7: 18,530,911 (GRCm39)	Y81F	possibly damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Serpinb1a	T	C	13: 33,034,397 (GRCm39)		probably benign	Het
Sh3pxd2a	A	T	19: 47,266,794 (GRCm39)	V265E	probably damaging	Het
Slc22a17	A	T	14: 55,146,282 (GRCm39)	Y337*	probably null	Het
Slc25a27	A	G	17: 43,968,663 (GRCm39)	V138A	probably benign	Het
Slc4a2	A	G	5: 24,636,314 (GRCm39)	Y220C	probably damaging	Het
Slc66a3	G	A	12: 17,039,840 (GRCm39)	L192F	probably damaging	Het
Stab1	A	T	14: 30,890,392 (GRCm39)	S20T	probably benign	Het
Tcstv2a	A	T	13: 120,725,633 (GRCm39)	Q99L	probably damaging	Het
Thsd1	G	T	8: 22,728,538 (GRCm39)		probably benign	Het
Tmem204	G	A	17: 25,299,566 (GRCm39)		probably benign	Het
Tom1l1	A	G	11: 90,540,721 (GRCm39)		probably benign	Het
Toporsl	T	A	4: 52,612,072 (GRCm39)	F655Y	possibly damaging	Het
Vmn2r98	A	G	17: 19,301,553 (GRCm39)	K852E	unknown	Het
Wdpcp	T	G	11: 21,641,884 (GRCm39)	L174R	probably damaging	Het
Zbbx	G	A	3: 75,019,414 (GRCm39)	P99S	probably damaging	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp600	A	T	4: 146,133,488 (GRCm39)	R719*	probably null	Het
Zfp697	C	A	3: 98,335,330 (GRCm39)	A365E	unknown	Het
Zfp957	A	C	14: 79,451,053 (GRCm39)	S249A	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
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'- CTTAATACCAAGGCCCTGGGTG -3'
(R):5'- TCTGCTGCAGCTGGAAGAAC -3'

Sequencing Primer
(F):5'- AAGGCCCTGGGTGGTACTG -3'
(R):5'- CCAACACAGAAAATCGCCTTGG -3'

Posted On

2014-10-01