Mutagenetix > Incidental Mutation

Incidental Mutation 'R0582:Lyn'

56457

Institutional Source

Beutler Lab

Gene Symbol

Lyn

Ensembl Gene

ENSMUSG00000042228

Gene Name

LYN proto-oncogene, Src family tyrosine kinase

Synonyms

Hck-2

MMRRC Submission

038772-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0582 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3678115-3813122 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3743296 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 72 (L72Q)

Ref Sequence

ENSEMBL: ENSMUSP00000100075 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041377] [ENSMUST00000103010]

AlphaFold

P25911

Predicted Effect

probably damaging
Transcript: ENSMUST00000041377
AA Change: L93Q

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038838
Gene: ENSMUSG00000042228
AA Change: L93Q

Domain	Start	End	E-Value	Type
SH3	66	122	9.24e-21	SMART
SH2	127	217	5.38e-33	SMART
TyrKc	247	497	3.25e-137	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000103010
AA Change: L72Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000100075
Gene: ENSMUSG00000042228
AA Change: L72Q

Domain	Start	End	E-Value	Type
SH3	45	101	5.8e-23	SMART
SH2	106	196	3.3e-35	SMART
TyrKc	226	476	1.6e-139	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145083

Meta Mutation Damage Score

0.6605

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.6%

Validation Efficiency

100% (45/45)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tyrosine protein kinase, which maybe involved in the regulation of mast cell degranulation, and erythroid differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit splenomegaly, reduced numbers of peripheral B cells, impaired immune responses, IgM hyperglobulinemia, autoimmunity with glomerulonephritis, and monocyte/macrophage tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230019H11Rik	G	A	10: 3,125,082		noncoding transcript	Het
Abcb5	A	T	12: 118,940,412	M186K	probably benign	Het
Afm	T	C	5: 90,524,780		probably benign	Het
Arfgef3	G	A	10: 18,611,290	A1332V	probably damaging	Het
Atp11a	T	C	8: 12,831,214	S451P	probably benign	Het
Birc6	T	A	17: 74,643,337	V3189E	probably damaging	Het
Ccdc150	C	T	1: 54,329,511	A626V	probably benign	Het
Ccdc50	G	A	16: 27,444,659		probably benign	Het
Cntln	T	C	4: 84,884,741	S93P	probably damaging	Het
Ctnna2	C	A	6: 77,758,417	V106L	probably benign	Het
Ctnnal1	G	C	4: 56,813,228	Q668E	probably damaging	Het
Cyp1a2	G	A	9: 57,680,246		probably benign	Het
Dnah8	A	G	17: 30,718,961	D1604G	probably benign	Het
Dscaml1	A	T	9: 45,668,264	I370F	possibly damaging	Het
Ears2	T	C	7: 122,055,658	E129G	probably benign	Het
Gm4981	A	T	10: 58,235,686	S235R	probably benign	Het
Igsf10	T	C	3: 59,319,767	I2162V	probably benign	Het
Ints9	C	T	14: 64,980,149	P42S	probably damaging	Het
Ipp	T	C	4: 116,515,467	L231S	probably damaging	Het
Nfe2l2	T	A	2: 75,676,768	E329D	probably damaging	Het
Olfr628	G	A	7: 103,732,673	C249Y	possibly damaging	Het
Olfr92	G	C	17: 37,111,455	L176V	probably benign	Het
Pdyn	A	C	2: 129,689,738	L44R	probably damaging	Het
Pkd1l1	A	G	11: 8,931,699		probably benign	Het
Prpf40a	A	T	2: 53,145,692	F695L	probably damaging	Het
Rnf217	A	G	10: 31,608,767	Y140H	possibly damaging	Het
Sema6c	C	T	3: 95,169,197	R265C	probably damaging	Het
Slc7a8	C	A	14: 54,758,444	C167F	probably damaging	Het
Snap47	A	T	11: 59,428,433	L293*	probably null	Het
Snx3	A	T	10: 42,533,280		probably benign	Het
Sycp2l	T	A	13: 41,137,955		probably benign	Het
Taar3	A	G	10: 23,949,817	Y87C	probably damaging	Het
Tm4sf4	T	C	3: 57,433,857		probably benign	Het
Tssc4	T	C	7: 143,070,509	S185P	probably damaging	Het
Ttc28	G	T	5: 111,183,296	A430S	probably damaging	Het
Vmn2r27	T	C	6: 124,224,290	D236G	probably benign	Het
Vps54	G	T	11: 21,300,137	D508Y	probably damaging	Het
Wdr53	G	A	16: 32,251,908	V24M	probably damaging	Het
Xirp2	T	G	2: 67,508,866	L484V	probably benign	Het
Zfyve26	T	C	12: 79,246,222	D2051G	probably damaging	Het

Other mutations in Lyn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01752:Lyn	APN	4	3743286	missense	probably benign
IGL02744:Lyn	APN	4	3738808	missense	probably benign	0.00
IGL02860:Lyn	APN	4	3745594	missense	possibly damaging	0.77
IGL03328:Lyn	APN	4	3745327	missense	probably benign	0.01
IGL03370:Lyn	APN	4	3780931	missense	possibly damaging	0.81
bibb	UTSW	4	3783055	missense	probably damaging	1.00
butterhead	UTSW	4	3748765	missense	probably benign	0.11
Cress	UTSW	4	3789908	nonsense	probably null
Friede	UTSW	4	3789834	nonsense	probably null
Kohlrabi	UTSW	4	3783089	missense	possibly damaging	0.74
lechuga	UTSW	4	3783050	missense	probably damaging	1.00
Lemon	UTSW	4	3746768	missense	probably damaging	1.00
Pacific	UTSW	4	3745330	missense	probably damaging	1.00
water	UTSW	4	3748787	missense	possibly damaging	0.93
R0079:Lyn	UTSW	4	3746768	missense	probably damaging	1.00
R0089:Lyn	UTSW	4	3748768	missense	probably benign	0.23
R0747:Lyn	UTSW	4	3745638	splice site	probably benign
R1460:Lyn	UTSW	4	3789908	nonsense	probably null
R1615:Lyn	UTSW	4	3748765	missense	probably benign	0.11
R1654:Lyn	UTSW	4	3789912	missense	probably damaging	0.99
R1703:Lyn	UTSW	4	3738867	splice site	probably null
R2301:Lyn	UTSW	4	3780959	missense	probably damaging	1.00
R2421:Lyn	UTSW	4	3748787	missense	possibly damaging	0.93
R2512:Lyn	UTSW	4	3745542	missense	probably benign	0.01
R3418:Lyn	UTSW	4	3746833	missense	probably damaging	0.97
R3419:Lyn	UTSW	4	3746833	missense	probably damaging	0.97
R3701:Lyn	UTSW	4	3742455	missense	probably benign
R3702:Lyn	UTSW	4	3742455	missense	probably benign
R3736:Lyn	UTSW	4	3745330	missense	probably damaging	1.00
R4350:Lyn	UTSW	4	3789796	missense	probably damaging	0.99
R4351:Lyn	UTSW	4	3789796	missense	probably damaging	0.99
R4352:Lyn	UTSW	4	3789796	missense	probably damaging	0.99
R4649:Lyn	UTSW	4	3738850	missense	probably benign
R5738:Lyn	UTSW	4	3782987	missense	probably damaging	1.00
R5875:Lyn	UTSW	4	3745631	splice site	probably null
R6375:Lyn	UTSW	4	3745527	missense	probably damaging	1.00
R7029:Lyn	UTSW	4	3782996	missense	probably damaging	0.98
R7621:Lyn	UTSW	4	3789834	nonsense	probably null
R7726:Lyn	UTSW	4	3756428	nonsense	probably null
R7940:Lyn	UTSW	4	3783089	missense	possibly damaging	0.74
R8169:Lyn	UTSW	4	3783050	missense	probably damaging	1.00
R8341:Lyn	UTSW	4	3743304	critical splice donor site	probably null
R8782:Lyn	UTSW	4	3783055	missense	probably damaging	1.00
R9056:Lyn	UTSW	4	3780925	missense	possibly damaging	0.89
R9353:Lyn	UTSW	4	3746804	missense	possibly damaging	0.71
R9567:Lyn	UTSW	4	3746757	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTCATTTACAGGTGGGAAGCACAG -3'
(R):5'- TGTCACACAGCCAAACGTCTTAAGTAG -3'

Sequencing Primer
(F):5'- TGGGAAGCACAGAGCTTCAC -3'
(R):5'- ACGTCTTAAGTAGCATTTTGGC -3'

Posted On

2013-07-11