Mutagenetix > Incidental Mutation

Incidental Mutation 'R2238:Clnk'

240224

Institutional Source

Beutler Lab

Gene Symbol

Clnk

Ensembl Gene

ENSMUSG00000039315

Gene Name

cytokine-dependent hematopoietic cell linker

Synonyms

MIST

MMRRC Submission

040238-MU

Accession Numbers

Essential gene?

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

Stock #

R2238 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38863805-39034155 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 38921694 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

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

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (59/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	T	A	4: 144,246,469 (GRCm39)	V5E	possibly damaging	Het
Acaca	T	C	11: 84,282,331 (GRCm39)		probably benign	Het
Adam18	T	C	8: 25,136,303 (GRCm39)	E406G	probably benign	Het
Adgrl4	A	T	3: 151,205,779 (GRCm39)	I164F	probably damaging	Het
Arhgap36	G	T	X: 48,582,282 (GRCm39)	V60L	possibly damaging	Het
Bmi1	T	C	2: 18,688,225 (GRCm39)		probably benign	Het
Carf	T	C	1: 60,187,193 (GRCm39)	S599P	probably benign	Het
Cdc37	G	A	9: 21,053,829 (GRCm39)	Q176*	probably null	Het
Clca3a1	T	A	3: 144,457,766 (GRCm39)	I373F	possibly damaging	Het
Cnot1	T	C	8: 96,496,149 (GRCm39)	I342V	probably benign	Het
Dact2	A	T	17: 14,417,312 (GRCm39)	L296Q	probably damaging	Het
Dctn2	C	T	10: 127,112,257 (GRCm39)	T123I	probably damaging	Het
Deup1	A	C	9: 15,486,597 (GRCm39)	I455S	probably damaging	Het
Dnmbp	A	G	19: 43,857,303 (GRCm39)	V957A	possibly damaging	Het
Emilin2	T	C	17: 71,581,734 (GRCm39)	R331G	possibly damaging	Het
Eomes	A	G	9: 118,311,359 (GRCm39)	D394G	probably damaging	Het
Epn1	A	G	7: 5,100,601 (GRCm39)	N518S	probably damaging	Het
Gbf1	T	C	19: 46,152,057 (GRCm39)	I30T	probably benign	Het
Gcc1	A	G	6: 28,420,462 (GRCm39)	V285A	probably benign	Het
Gopc	T	C	10: 52,229,499 (GRCm39)	H188R	probably damaging	Het
Herc6	A	G	6: 57,631,386 (GRCm39)	N693D	probably benign	Het
Hipk2	A	G	6: 38,706,850 (GRCm39)		probably benign	Het
Htatsf1	G	T	X: 56,111,864 (GRCm39)	D642Y	unknown	Het
Ints1	G	A	5: 139,750,955 (GRCm39)	T814M	possibly damaging	Het
Kdm6a	T	C	X: 18,065,476 (GRCm39)	F104S	probably damaging	Het
Kdr	T	A	5: 76,110,179 (GRCm39)	Y936F	possibly damaging	Het
Ly6k	T	C	15: 74,669,018 (GRCm39)	E87G	probably benign	Het
Lyst	A	G	13: 13,917,848 (GRCm39)	N3303D	probably benign	Het
Mindy4	T	C	6: 55,278,055 (GRCm39)	F633S	probably damaging	Het
Msl2	T	A	9: 100,978,569 (GRCm39)	N314K	probably benign	Het
Ncapd3	A	G	9: 26,978,320 (GRCm39)	T840A	probably benign	Het
Neil3	T	C	8: 54,052,311 (GRCm39)	D429G	possibly damaging	Het
Nt5c1b	C	A	12: 10,425,558 (GRCm39)	T309K	probably damaging	Het
Nt5c1b	A	G	12: 10,440,108 (GRCm39)	Y550C	probably damaging	Het
Or10v5	T	C	19: 11,805,814 (GRCm39)	D192G	probably damaging	Het
Pabpc4l	A	C	3: 46,401,137 (GRCm39)	V169G	probably damaging	Het
Pcgf5	A	T	19: 36,414,754 (GRCm39)	N105I	probably damaging	Het
Phka2	A	G	X: 159,324,408 (GRCm39)	E254G	probably damaging	Het
Pik3cb	A	G	9: 98,923,081 (GRCm39)	Y984H	probably damaging	Het
Ptprz1	A	T	6: 22,987,376 (GRCm39)	Q387L	probably damaging	Het
Rassf8	T	C	6: 145,762,910 (GRCm39)	V419A	probably damaging	Het
Rnf148	T	C	6: 23,654,345 (GRCm39)	Y217C	probably benign	Het
Sec24d	T	A	3: 123,143,543 (GRCm39)		probably null	Het
Sesn3	T	C	9: 14,219,761 (GRCm39)	V50A	probably benign	Het
Sgcd	T	C	11: 47,023,509 (GRCm39)	N99D	possibly damaging	Het
Sncaip	T	C	18: 53,001,619 (GRCm39)	S47P	probably damaging	Het
Sp2	C	T	11: 96,846,762 (GRCm39)	C527Y	probably damaging	Het
Spata4	A	C	8: 55,055,664 (GRCm39)	K185T	probably benign	Het
Spin2c	A	G	X: 152,616,672 (GRCm39)	I162V	probably damaging	Het
Srcin1	T	C	11: 97,425,645 (GRCm39)	T471A	probably benign	Het
Stac	G	A	9: 111,519,190 (GRCm39)		probably benign	Het
Tcaf3	A	G	6: 42,570,262 (GRCm39)	Y497H	probably benign	Het
Tmem40	C	T	6: 115,708,038 (GRCm39)	W150*	probably null	Het
Tmem59l	T	C	8: 70,937,772 (GRCm39)	T203A	probably damaging	Het
Tnfsf11	A	T	14: 78,537,421 (GRCm39)	S81T	possibly damaging	Het
Topaz1	C	T	9: 122,600,212 (GRCm39)	T984I	probably benign	Het
Vmn1r204	A	G	13: 22,740,993 (GRCm39)	H208R	probably benign	Het
Vmn2r98	T	A	17: 19,286,213 (GRCm39)	M237K	probably damaging	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
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
R4686:Clnk	UTSW	5	38,899,180 (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'- TCTTGGTCAATAAGGTAAGGCTG -3'
(R):5'- TACTCACAGATGTTTAGCAACCG -3'

Sequencing Primer
(F):5'- CTGTAAAAGAGTCAGGAGGCATGC -3'
(R):5'- GCTGGCCATATGCACACAG -3'

Posted On

2014-10-15