Mutagenetix > Incidental Mutation

Incidental Mutation 'R6160:Tyro3'

489794

Institutional Source

Beutler Lab

Gene Symbol

Tyro3

Ensembl Gene

ENSMUSG00000027298

Gene Name

TYRO3 protein tyrosine kinase 3

Synonyms

Sky, Etk-2, Tif, Rse, Brt, Sky, Dtk

MMRRC Submission

044307-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6160 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119628221-119648585 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 119633751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 133 (D133A)

Ref Sequence

ENSEMBL: ENSMUSP00000106410 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028763] [ENSMUST00000110783]

AlphaFold

P55144

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028763
AA Change: D137A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028763
Gene: ENSMUSG00000027298
AA Change: D137A

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
IGc2	45	114	1.29e-15	SMART
IG	135	212	1.3e-2	SMART
FN3	215	297	1.5e-5	SMART
FN3	313	393	1.9e0	SMART
transmembrane domain	419	441	N/A	INTRINSIC
TyrKc	508	776	1.18e-125	SMART
low complexity region	817	832	N/A	INTRINSIC
low complexity region	865	875	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110783
AA Change: D133A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106410
Gene: ENSMUSG00000027298
AA Change: D133A

Domain	Start	End	E-Value	Type
IGc2	41	110	1.29e-15	SMART
IG	131	208	1.3e-2	SMART
FN3	211	293	1.5e-5	SMART
FN3	309	389	1.9e0	SMART
transmembrane domain	415	437	N/A	INTRINSIC
TyrKc	504	772	1.18e-125	SMART
low complexity region	813	828	N/A	INTRINSIC
low complexity region	861	871	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130456

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135726

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147636

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148343

Meta Mutation Damage Score

0.1597

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

94% (62/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene is part of a 3-member transmembrane receptor kinase receptor family with a processed pseudogene distal on chromosome 15. The encoded protein is activated by the products of the growth arrest-specific gene 6 and protein S genes and is involved in controlling cell survival and proliferation, spermatogenesis, immunoregulation and phagocytosis. The encoded protein has also been identified as a cell entry factor for Ebola and Marburg viruses. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygous mutant mice are phenotypically normal, however in conjunction with mutations in other related receptor tyrosine kinases, mutations of this gene results in fertility defects, autoimmunity, and aberrant apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	T	A	7: 40,642,950 (GRCm39)	S297R	possibly damaging	Het
5530400C23Rik	A	G	6: 133,271,289 (GRCm39)	E111G	possibly damaging	Het
8030423J24Rik	T	A	13: 71,032,029 (GRCm39)	S34T	unknown	Het
Ace3	T	A	11: 105,885,558 (GRCm39)	W20R	possibly damaging	Het
Adgrf1	A	G	17: 43,621,578 (GRCm39)	E605G	probably damaging	Het
Arhgap44	G	A	11: 65,053,375 (GRCm39)		probably benign	Het
Atm	A	C	9: 53,402,259 (GRCm39)	H1404Q	probably benign	Het
AW209491	A	G	13: 14,811,306 (GRCm39)	E53G	probably damaging	Het
Bhmt1b	G	A	18: 87,775,245 (GRCm39)	C256Y	probably damaging	Het
Cdt1	C	T	8: 123,298,107 (GRCm39)	T366I	probably benign	Het
Cerk	A	T	15: 86,026,974 (GRCm39)	C179S	probably benign	Het
Cldn10	T	C	14: 119,099,255 (GRCm39)	V123A	possibly damaging	Het
Clip1	T	C	5: 123,751,604 (GRCm39)	K726E	possibly damaging	Het
Dcaf12	A	T	4: 41,294,043 (GRCm39)	Y365N	probably damaging	Het
Dennd6b	A	G	15: 89,073,024 (GRCm39)	L171P	probably damaging	Het
Dip2c	G	A	13: 9,583,290 (GRCm39)	V91I	probably benign	Het
Dlec1	A	G	9: 118,972,387 (GRCm39)	I1431V	probably benign	Het
Egln1	T	C	8: 125,675,231 (GRCm39)	D188G	probably damaging	Het
Enpp5	T	A	17: 44,392,259 (GRCm39)	N229K	possibly damaging	Het
Fmo1	T	G	1: 162,663,867 (GRCm39)	I221L	probably benign	Het
Fsip2	G	A	2: 82,818,289 (GRCm39)	W4674*	probably null	Het
Gm12185	G	A	11: 48,799,255 (GRCm39)	Q413*	probably null	Het
Gm7298	A	T	6: 121,741,886 (GRCm39)	H436L	probably benign	Het
Gucy2c	G	A	6: 136,717,684 (GRCm39)	Q430*	probably null	Het
Hgd	A	G	16: 37,433,660 (GRCm39)	H134R	probably damaging	Het
Hoxd8	A	G	2: 74,536,343 (GRCm39)	E151G	probably damaging	Het
Il15ra	A	G	2: 11,724,827 (GRCm39)	D99G	probably damaging	Het
Ints4	T	A	7: 97,158,790 (GRCm39)		probably null	Het
Itgb1	T	A	8: 129,446,764 (GRCm39)	F426L	possibly damaging	Het
Itpr1	A	C	6: 108,495,716 (GRCm39)	I2534L	probably benign	Het
Kcnq4	T	A	4: 120,573,756 (GRCm39)	H235L	probably damaging	Het
Kcnt1	T	A	2: 25,782,395 (GRCm39)	I178N	probably damaging	Het
Kidins220	A	G	12: 25,047,310 (GRCm39)	D252G	probably damaging	Het
Krt23	A	G	11: 99,376,544 (GRCm39)	I204T	probably damaging	Het
Lipo4	A	G	19: 33,480,693 (GRCm39)	L225P	probably damaging	Het
Lrp3	T	C	7: 34,903,548 (GRCm39)	D245G	possibly damaging	Het
Mmp16	A	G	4: 18,051,857 (GRCm39)	D282G	probably damaging	Het
Myo1c	A	T	11: 75,541,568 (GRCm39)	H18L	probably benign	Het
Myo1f	C	A	17: 33,823,318 (GRCm39)	P981Q	probably benign	Het
Nle1	A	T	11: 82,798,983 (GRCm39)	F33I	probably benign	Het
Nlrp4e	T	G	7: 23,020,731 (GRCm39)	M406R	probably damaging	Het
Obscn	A	T	11: 58,942,611 (GRCm39)	V4857E	probably damaging	Het
Palb2	A	T	7: 121,727,643 (GRCm39)		probably null	Het
Phospho1	A	T	11: 95,721,450 (GRCm39)	E22V	probably damaging	Het
Pom121l2	C	T	13: 22,167,838 (GRCm39)	S703L	possibly damaging	Het
Prex2	T	C	1: 11,064,075 (GRCm39)	L20P	probably damaging	Het
Psmb7	T	C	2: 38,533,393 (GRCm39)	T45A	probably damaging	Het
R3hdm2	T	C	10: 127,320,376 (GRCm39)	I532T	probably damaging	Het
Rcn1	T	C	2: 105,222,362 (GRCm39)	D208G	probably damaging	Het
Recql5	A	G	11: 115,823,613 (GRCm39)		probably null	Het
Resf1	G	A	6: 149,233,005 (GRCm39)		probably null	Het
Rfc4	A	T	16: 22,933,433 (GRCm39)	I242N	probably damaging	Het
Rims1	T	C	1: 22,503,235 (GRCm39)	Y650C	probably damaging	Het
Shc2	C	T	10: 79,462,853 (GRCm39)		probably null	Het
Slc14a2	A	T	18: 78,202,190 (GRCm39)		probably null	Het
Slc6a6	A	T	6: 91,716,995 (GRCm39)		probably null	Het
Synj2	C	A	17: 6,058,336 (GRCm39)	H275N	possibly damaging	Het
T	A	T	17: 8,660,618 (GRCm39)	T410S	probably benign	Het
Tars3	A	G	7: 65,332,527 (GRCm39)	I543V	probably benign	Het
Tbc1d8	T	A	1: 39,411,484 (GRCm39)	K1117N	probably damaging	Het
Tm7sf3	A	T	6: 146,507,787 (GRCm39)	L425*	probably null	Het
Trav14-3	A	G	14: 54,000,978 (GRCm39)	Y63C	probably damaging	Het
Vmn1r119	T	G	7: 20,745,740 (GRCm39)	H214P	possibly damaging	Het
Vmn2r120	G	A	17: 57,816,418 (GRCm39)	P646S	probably benign	Het
Zbtb7c	A	T	18: 76,278,904 (GRCm39)	Y454F	probably benign	Het
Zmym2	T	C	14: 57,187,766 (GRCm39)	L1144P	probably damaging	Het

Other mutations in Tyro3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02104:Tyro3	APN	2	119,643,681 (GRCm39)	missense	probably damaging	1.00
IGL02221:Tyro3	APN	2	119,643,071 (GRCm39)	missense	probably benign	0.00
IGL02389:Tyro3	APN	2	119,635,345 (GRCm39)	splice site	probably benign
IGL02442:Tyro3	APN	2	119,639,349 (GRCm39)	missense	probably benign	0.16
PIT4382001:Tyro3	UTSW	2	119,632,845 (GRCm39)	missense	probably damaging	1.00
R0078:Tyro3	UTSW	2	119,647,487 (GRCm39)	missense	probably damaging	1.00
R0087:Tyro3	UTSW	2	119,632,182 (GRCm39)	missense	probably benign	0.38
R0503:Tyro3	UTSW	2	119,633,711 (GRCm39)	splice site	probably benign
R0551:Tyro3	UTSW	2	119,647,385 (GRCm39)	missense	probably damaging	1.00
R1858:Tyro3	UTSW	2	119,632,176 (GRCm39)	missense	possibly damaging	0.95
R1902:Tyro3	UTSW	2	119,632,176 (GRCm39)	missense	possibly damaging	0.73
R1980:Tyro3	UTSW	2	119,639,298 (GRCm39)	missense	probably benign
R2294:Tyro3	UTSW	2	119,636,126 (GRCm39)	missense	probably damaging	0.99
R3877:Tyro3	UTSW	2	119,643,774 (GRCm39)	missense	probably damaging	0.98
R4651:Tyro3	UTSW	2	119,647,349 (GRCm39)	missense	probably benign	0.01
R4652:Tyro3	UTSW	2	119,647,349 (GRCm39)	missense	probably benign	0.01
R4698:Tyro3	UTSW	2	119,633,751 (GRCm39)	missense	probably damaging	1.00
R4757:Tyro3	UTSW	2	119,641,419 (GRCm39)	missense	probably damaging	1.00
R4894:Tyro3	UTSW	2	119,632,779 (GRCm39)	missense	probably damaging	0.96
R5193:Tyro3	UTSW	2	119,640,998 (GRCm39)	missense	probably damaging	1.00
R5366:Tyro3	UTSW	2	119,635,312 (GRCm39)	missense	probably damaging	1.00
R5693:Tyro3	UTSW	2	119,641,349 (GRCm39)	missense	probably damaging	1.00
R6017:Tyro3	UTSW	2	119,647,147 (GRCm39)	missense	probably damaging	1.00
R6110:Tyro3	UTSW	2	119,643,304 (GRCm39)	missense	probably damaging	1.00
R6290:Tyro3	UTSW	2	119,647,321 (GRCm39)	missense	probably benign
R6293:Tyro3	UTSW	2	119,638,481 (GRCm39)	missense	possibly damaging	0.89
R6366:Tyro3	UTSW	2	119,647,156 (GRCm39)	missense	probably damaging	0.96
R6712:Tyro3	UTSW	2	119,635,335 (GRCm39)	missense	probably null	0.44
R7645:Tyro3	UTSW	2	119,647,387 (GRCm39)	missense	probably damaging	1.00
R9378:Tyro3	UTSW	2	119,642,648 (GRCm39)	missense	probably damaging	1.00
R9541:Tyro3	UTSW	2	119,642,589 (GRCm39)	missense	possibly damaging	0.47
Z1088:Tyro3	UTSW	2	119,639,948 (GRCm39)	missense	probably benign	0.31
Z1177:Tyro3	UTSW	2	119,640,472 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGCCTCTCCCATACTCTGAG -3'
(R):5'- AGCTCACTCTTGGCTCAAAG -3'

Sequencing Primer
(F):5'- GCTGGTCTGGGAAGGGAC -3'
(R):5'- AAGCCCCCTCCTGAGACTG -3'

Posted On

2017-10-10