Mutagenetix > Incidental Mutation

Incidental Mutation 'R4686:Clnk'

353662

Institutional Source

Beutler Lab

Gene Symbol

Clnk

Ensembl Gene

ENSMUSG00000039315

Gene Name

cytokine-dependent hematopoietic cell linker

Synonyms

MIST

MMRRC Submission

041937-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R4686 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38863805-39034155 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 38899180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132779 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169819] [ENSMUST00000171633]

AlphaFold

Q9QZE2

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000114080

Predicted Effect

probably benign
Transcript: ENSMUST00000169819

SMART Domains

Protein: ENSMUSP00000128473
Gene: ENSMUSG00000039315

Domain	Start	End	E-Value	Type
low complexity region	158	188	N/A	INTRINSIC
SH2	307	398	3.53e-19	SMART
low complexity region	414	427	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171633

SMART Domains

Protein: ENSMUSP00000132779
Gene: ENSMUSG00000039315

Domain	Start	End	E-Value	Type
low complexity region	158	188	N/A	INTRINSIC
SH2	307	398	3.53e-19	SMART
low complexity region	414	427	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177682

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

97% (68/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MIST is a member of the SLP76 family of adaptors (see LCP2, MIM 601603; BLNK, MIM 604515). MIST plays a role in the regulation of immunoreceptor signaling, including PLC-gamma (PLCG1; MIM 172420)-mediated B cell antigen receptor (BCR) signaling and FC-epsilon R1 (see FCER1A, MIM 147140)-mediated mast cell degranulation (Cao et al., 1999 [PubMed 10562326]; Goitsuka et al., 2000, 2001 [PubMed 10744659] [PubMed 11463797]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a reporter allele display altered natural killer (NK) T cell physiology and enhanced NK cell cytolysis. Mice homozygous for knock-out allele display abnormal mast cell physiology as well as enhanced NK cell cytolysis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	A	G	2: 26,983,837 (GRCm39)	N411S	probably damaging	Het
Adnp	A	C	2: 168,024,309 (GRCm39)	C995W	possibly damaging	Het
Akap6	CA	C	12: 52,934,406 (GRCm39)		probably null	Het
Ano2	T	G	6: 125,767,254 (GRCm39)	I228M	probably benign	Het
Arhgap21	T	C	2: 20,868,033 (GRCm39)	D830G	probably damaging	Het
Atp13a2	G	A	4: 140,730,587 (GRCm39)		probably null	Het
Ccdc175	C	T	12: 72,159,052 (GRCm39)	S629N	probably damaging	Het
Cdhr4	T	C	9: 107,872,883 (GRCm39)	W311R	probably benign	Het
Chaf1b	A	G	16: 93,681,472 (GRCm39)	H30R	probably benign	Het
Copb1	A	G	7: 113,820,971 (GRCm39)	S773P	possibly damaging	Het
Cse1l	A	G	2: 166,774,080 (GRCm39)	D198G	probably damaging	Het
Ears2	A	G	7: 121,647,427 (GRCm39)	S286P	probably damaging	Het
Efcab7	A	G	4: 99,735,318 (GRCm39)	E114G	probably benign	Het
Fanca	G	C	8: 123,995,673 (GRCm39)		probably benign	Het
Flt3	A	G	5: 147,313,858 (GRCm39)	L64P	probably damaging	Het
Gabrb1	A	G	5: 71,857,365 (GRCm39)	T3A	possibly damaging	Het
Gm10384	T	C	15: 36,871,897 (GRCm39)		noncoding transcript	Het
Gm5117	G	A	8: 32,229,284 (GRCm39)		noncoding transcript	Het
Gpr141	T	A	13: 19,935,951 (GRCm39)	I275F	probably benign	Het
Greb1l	A	T	18: 10,522,112 (GRCm39)	E736V	probably damaging	Het
Hc	T	C	2: 34,929,260 (GRCm39)	E279G	possibly damaging	Het
Hivep1	C	T	13: 42,309,326 (GRCm39)	T522M	probably benign	Het
Hspa12a	T	A	19: 58,788,181 (GRCm39)	E547V	possibly damaging	Het
Il10ra	A	G	9: 45,180,357 (GRCm39)	L5S	probably damaging	Het
Iqcf6	G	T	9: 106,504,543 (GRCm39)	W69L	probably damaging	Het
Iqgap2	T	C	13: 95,858,117 (GRCm39)	N379S	probably damaging	Het
Itpr2	A	G	6: 146,131,273 (GRCm39)	I1977T	probably damaging	Het
Kcnq1	A	T	7: 142,661,466 (GRCm39)	Y124F	probably benign	Het
Lamp5	C	T	2: 135,900,923 (GRCm39)	T41M	probably damaging	Het
Lgr5	A	G	10: 115,294,648 (GRCm39)		probably benign	Het
Mlec	A	G	5: 115,288,355 (GRCm39)	I167T	possibly damaging	Het
Myf6	A	G	10: 107,329,689 (GRCm39)	V198A	probably benign	Het
Nceh1	C	T	3: 27,295,818 (GRCm39)	R360C	probably damaging	Het
Nos2	C	A	11: 78,819,456 (GRCm39)	T56N	possibly damaging	Het
Npw	T	G	17: 24,876,386 (GRCm39)	H175P	probably benign	Het
Nrxn3	A	T	12: 89,477,421 (GRCm39)	I899F	probably damaging	Het
Ociad1	A	G	5: 73,464,078 (GRCm39)	T179A	possibly damaging	Het
Or1e19	A	G	11: 73,316,264 (GRCm39)	S182P	probably benign	Het
Or52b4	A	G	7: 102,184,356 (GRCm39)	Y134C	probably damaging	Het
Or8b48	T	A	9: 38,493,327 (GRCm39)	F251L	probably damaging	Het
Pacsin2	T	C	15: 83,265,976 (GRCm39)	N74D	probably benign	Het
Pcdh7	A	G	5: 58,286,511 (GRCm39)	I1196V	probably benign	Het
Pdxk	A	T	10: 78,282,837 (GRCm39)		probably null	Het
Phb2	G	A	6: 124,690,105 (GRCm39)		probably null	Het
Pus7l	T	A	15: 94,438,092 (GRCm39)	N251I	probably damaging	Het
Rgs7bp	T	A	13: 105,100,597 (GRCm39)	N226I	probably damaging	Het
Runx2	T	A	17: 44,950,572 (GRCm39)	D327V	probably damaging	Het
Srp68	A	T	11: 116,156,227 (GRCm39)	C172S	probably damaging	Het
Stk25	A	G	1: 93,551,142 (GRCm39)		probably null	Het
Tbrg4	C	T	11: 6,568,468 (GRCm39)	R437Q	probably benign	Het
Tedc2	C	T	17: 24,436,862 (GRCm39)		probably null	Het
Teddm1a	T	A	1: 153,768,196 (GRCm39)	I220N	probably damaging	Het
Thoc1	G	T	18: 9,970,312 (GRCm39)	E221*	probably null	Het
Tmem132d	G	T	5: 127,869,674 (GRCm39)	D553E	possibly damaging	Het
Topors	A	T	4: 40,261,694 (GRCm39)	V530D	probably benign	Het
Tpx2	T	C	2: 152,731,103 (GRCm39)	V515A	possibly damaging	Het
Trim24	A	G	6: 37,885,240 (GRCm39)	H191R	probably damaging	Het
Ttn	G	A	2: 76,567,914 (GRCm39)	R27660W	probably damaging	Het
Vmn1r203	T	C	13: 22,708,528 (GRCm39)	L103P	probably damaging	Het
Vmn1r233	C	T	17: 21,214,368 (GRCm39)	S194N	probably benign	Het
Vmn2r108	T	C	17: 20,691,636 (GRCm39)	K296E	probably damaging	Het
Vmn2r88	G	A	14: 51,650,796 (GRCm39)	E170K	probably benign	Het
Zfp740	C	T	15: 102,117,184 (GRCm39)		probably benign	Het
Zmym5	A	G	14: 57,049,618 (GRCm39)		probably benign	Het

Other mutations in Clnk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01328:Clnk	APN	5	38,941,871 (GRCm39)	missense	possibly damaging	0.95
IGL01348:Clnk	APN	5	38,870,550 (GRCm39)	missense	probably damaging	1.00
IGL01901:Clnk	APN	5	38,952,321 (GRCm39)	missense	probably damaging	1.00
IGL01908:Clnk	APN	5	38,870,485 (GRCm39)	missense	probably damaging	1.00
IGL02437:Clnk	APN	5	38,931,909 (GRCm39)	critical splice donor site	probably null
IGL02745:Clnk	APN	5	38,893,662 (GRCm39)	missense	probably benign	0.00
R0138:Clnk	UTSW	5	38,931,951 (GRCm39)	splice site	probably benign
R0196:Clnk	UTSW	5	38,927,282 (GRCm39)	missense	probably damaging	0.97
R1522:Clnk	UTSW	5	38,952,309 (GRCm39)	missense	probably damaging	1.00
R1958:Clnk	UTSW	5	38,863,969 (GRCm39)	missense	possibly damaging	0.96
R2036:Clnk	UTSW	5	38,910,143 (GRCm39)	splice site	probably null
R2238:Clnk	UTSW	5	38,921,694 (GRCm39)	splice site	probably benign
R3788:Clnk	UTSW	5	38,872,341 (GRCm39)	missense	probably damaging	1.00
R3931:Clnk	UTSW	5	38,925,412 (GRCm39)	missense	probably benign
R4159:Clnk	UTSW	5	38,899,138 (GRCm39)	intron	probably benign
R4182:Clnk	UTSW	5	38,905,193 (GRCm39)	intron	probably benign
R4751:Clnk	UTSW	5	38,878,256 (GRCm39)	missense	probably benign	0.06
R4842:Clnk	UTSW	5	38,870,412 (GRCm39)	splice site	probably null
R5811:Clnk	UTSW	5	38,870,490 (GRCm39)	missense	probably damaging	1.00
R6236:Clnk	UTSW	5	38,870,542 (GRCm39)	missense	probably benign	0.41
R7157:Clnk	UTSW	5	38,927,234 (GRCm39)	missense	possibly damaging	0.63
R7615:Clnk	UTSW	5	38,864,041 (GRCm39)	missense	probably damaging	1.00
R7618:Clnk	UTSW	5	38,893,698 (GRCm39)	missense	probably benign	0.06
R7762:Clnk	UTSW	5	38,925,484 (GRCm39)	missense	probably benign	0.24
R7768:Clnk	UTSW	5	38,925,501 (GRCm39)	missense	probably damaging	1.00
R7823:Clnk	UTSW	5	38,907,694 (GRCm39)	missense	probably benign	0.00
R8158:Clnk	UTSW	5	38,952,254 (GRCm39)	critical splice donor site	probably null
R8423:Clnk	UTSW	5	38,952,253 (GRCm39)	critical splice donor site	probably null
R8710:Clnk	UTSW	5	38,931,940 (GRCm39)	missense	possibly damaging	0.93
R9035:Clnk	UTSW	5	38,907,751 (GRCm39)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- CACAGTGAAATCTCTCTAGTTCTACTG -3'
(R):5'- AGCCCCTACTTGGTTGCATG -3'

Sequencing Primer
(F):5'- TTGAGTGAGGTAGAAGTGC -3'
(R):5'- CCTACTTGGTTGCATGGGGTAAAAAG -3'

Posted On

2015-10-21