Mutagenetix > Incidental Mutations

Incidental Mutation 'R0371:Havcr1'

30484

Institutional Source

Beutler Lab

Gene Symbol

Havcr1

Ensembl Gene

ENSMUSG00000040405

Gene Name

hepatitis A virus cellular receptor 1

Synonyms

KIM-1, Tim1, TIM-1

MMRRC Submission

038577-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0371 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46735080-46779578 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46752589 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 112 (I112T)

Ref Sequence

ENSEMBL: ENSMUSP00000043827 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047568
AA Change: I112T

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000043827
Gene: ENSMUSG00000040405
AA Change: I112T

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: I112T

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000080503
Gene: ENSMUSG00000040405
AA Change: I112T

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: I112T

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104846
Gene: ENSMUSG00000040405
AA Change: I112T

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: I112T

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104847
Gene: ENSMUSG00000040405
AA Change: I112T

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

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.6%
20x: 90.6%

Validation Efficiency

99% (67/68)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	G	A	16: 4,288,047	R1068C	probably benign	Het
Afmid	C	T	11: 117,835,140		probably benign	Het
Aqr	A	G	2: 114,157,604	V159A	possibly damaging	Het
Atp6v0d2	G	C	4: 19,880,033	T288R	possibly damaging	Het
Btnl1	T	C	17: 34,381,057	V178A	probably damaging	Het
Ccdc110	T	A	8: 45,942,806	M578K	possibly damaging	Het
Ccdc38	G	T	10: 93,562,812	E51*	probably null	Het
Cep290	T	A	10: 100,518,564		probably benign	Het
Cilp2	T	C	8: 69,881,606	E914G	probably damaging	Het
Col6a2	T	C	10: 76,614,473	N208S	probably benign	Het
Ctrb1	T	A	8: 111,687,151	I194F	probably benign	Het
Cyp4a12a	C	G	4: 115,326,683	R229G	probably damaging	Het
Dach1	C	T	14: 97,969,903	V337M	probably damaging	Het
Dcbld2	A	G	16: 58,450,823	N321S	probably benign	Het
Enpep	C	T	3: 129,283,867		probably null	Het
Fat1	T	C	8: 44,951,892	L560P	probably damaging	Het
Fdxr	T	C	11: 115,276,089	H58R	possibly damaging	Het
Filip1	G	T	9: 79,860,091	P147T	probably damaging	Het
Fras1	G	A	5: 96,555,331	E318K	possibly damaging	Het
Gm4759	A	T	7: 106,422,779	C339S	unknown	Het
Grk2	T	C	19: 4,291,586		probably null	Het
Hjurp	G	A	1: 88,277,368		probably benign	Het
Ildr2	G	A	1: 166,303,564	V330I	probably damaging	Het
Ino80d	T	C	1: 63,057,956		probably benign	Het
Iqsec1	A	G	6: 90,670,403		probably benign	Het
Irf2bpl	C	T	12: 86,881,643	W752*	probably null	Het
Kdr	T	A	5: 75,941,834	H1211L	probably benign	Het
Klri2	A	G	6: 129,732,143	*249R	probably null	Het
Ktn1	A	T	14: 47,724,003	K1054*	probably null	Het
Lactb2	A	G	1: 13,650,760	S83P	possibly damaging	Het
Lrrc3b	A	T	14: 15,358,560	C15*	probably null	Het
Mrs2	T	C	13: 24,993,095	I430V	probably benign	Het
Myo3b	C	T	2: 70,252,960		probably benign	Het
Nbas	C	T	12: 13,331,095	T696I	probably damaging	Het
Nsun6	T	C	2: 15,030,087	D240G	probably damaging	Het
Nup107	T	C	10: 117,763,769	E615G	probably damaging	Het
Olfr1283	A	T	2: 111,369,153	I174L	probably benign	Het
Olfr205	A	G	16: 59,329,222	C96R	possibly damaging	Het
Olfr411	T	A	11: 74,346,934	I217F	probably damaging	Het
Olfr447	A	T	6: 42,911,938	R138S	probably benign	Het
Pabpc1l	G	A	2: 164,035,272	V256M	probably benign	Het
Sf3b2	C	T	19: 5,274,824	D845N	probably damaging	Het
Sik1	T	C	17: 31,848,984	D409G	probably benign	Het
Slc22a22	A	T	15: 57,249,735	D369E	possibly damaging	Het
Smg1	T	A	7: 118,168,300		probably benign	Het
Snap29	C	A	16: 17,406,203	D27E	probably benign	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Sorcs3	A	G	19: 48,603,894	I333V	probably benign	Het
Spag7	A	G	11: 70,664,796	M105T	probably damaging	Het
Srgap3	A	T	6: 112,771,471	S407T	probably damaging	Het
Supt6	T	C	11: 78,223,157	N854S	probably benign	Het
Syne2	T	C	12: 75,933,845	S1460P	probably damaging	Het
Taok3	C	T	5: 117,206,687	Q160*	probably null	Het
Tchhl1	C	A	3: 93,469,577	A27E	probably damaging	Het
Tet1	T	C	10: 62,878,399	D539G	probably damaging	Het
Tut1	T	C	19: 8,962,773	F374L	probably damaging	Het
Unc5c	C	T	3: 141,827,522	P770S	probably benign	Het
Vmn2r101	T	A	17: 19,590,132	N393K	probably benign	Het
Vmn2r94	T	A	17: 18,257,294	H285L	probably benign	Het
Wdr62	G	A	7: 30,242,158	S700L	possibly damaging	Het
Wscd1	A	G	11: 71,788,723	D474G	probably damaging	Het
Zcchc7	A	G	4: 44,762,190	N106S	probably damaging	Het
Zfp345	G	T	2: 150,472,063	T518N	possibly damaging	Het
Zfp648	A	T	1: 154,204,667	S191C	possibly damaging	Het
Zkscan8	C	T	13: 21,526,674	E89K	probably damaging	Het

Other mutations in Havcr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02119:Havcr1	APN	11	46775493	missense	probably damaging	1.00
IGL02207:Havcr1	APN	11	46778576	missense	probably benign	0.28
R0355:Havcr1	UTSW	11	46756224	missense	possibly damaging	0.91
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
Z1177:Havcr1	UTSW	11	46775498	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

2013-04-24