Mutagenetix > Incidental Mutation

Incidental Mutation 'R3788:Clnk'

272369

Institutional Source

Beutler Lab

Gene Symbol

Clnk

Ensembl Gene

ENSMUSG00000039315

Gene Name

cytokine-dependent hematopoietic cell linker

Synonyms

MIST

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R3788 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38863805-39034155 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38872341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 310 (Y310H)

Ref Sequence

ENSEMBL: ENSMUSP00000132779 (fasta)

Gene Model

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

AlphaFold

Q9QZE2

Predicted Effect

probably damaging
Transcript: ENSMUST00000169819
AA Change: Y310H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128473
Gene: ENSMUSG00000039315
AA Change: Y310H

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 damaging
Transcript: ENSMUST00000171633
AA Change: Y310H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132779
Gene: ENSMUSG00000039315
AA Change: Y310H

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

Meta Mutation Damage Score

0.8106

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,846,561 (GRCm39)	V26E	possibly damaging	Het
Abhd16a	A	G	17: 35,320,563 (GRCm39)	N411S	probably damaging	Het
Akap13	G	A	7: 75,351,901 (GRCm39)		probably null	Het
Aph1b	T	C	9: 66,701,348 (GRCm39)		probably benign	Het
Aspm	C	T	1: 139,390,941 (GRCm39)	T742I	probably damaging	Het
Bclaf3	A	G	X: 158,349,492 (GRCm39)	H619R	probably benign	Het
Bltp2	T	A	11: 78,179,123 (GRCm39)		probably null	Het
Cemip	A	T	7: 83,593,106 (GRCm39)	L1199H	probably damaging	Het
Chd2	G	A	7: 73,096,878 (GRCm39)		probably benign	Het
Crmp1	A	G	5: 37,441,484 (GRCm39)	D522G	probably damaging	Het
Cyth3	A	G	5: 143,622,298 (GRCm39)		probably benign	Het
Dcbld1	T	A	10: 52,195,754 (GRCm39)	Y392N	probably damaging	Het
Flnc	T	C	6: 29,454,056 (GRCm39)	F1820L	probably damaging	Het
Galnt18	G	A	7: 111,119,322 (GRCm39)	R385*	probably null	Het
Gpatch3	C	A	4: 133,302,479 (GRCm39)	R137S	possibly damaging	Het
Gpc6	C	T	14: 117,861,878 (GRCm39)	P265S	probably damaging	Het
Harbi1	T	A	2: 91,550,952 (GRCm39)	D308E	probably benign	Het
Hdhd2	G	A	18: 77,042,883 (GRCm39)		probably null	Het
Hk1	T	C	10: 62,111,467 (GRCm39)	K737E	possibly damaging	Het
Hnrnpr	G	A	4: 136,063,624 (GRCm39)	V345M	probably damaging	Het
Ift56	T	A	6: 38,380,459 (GRCm39)		probably null	Het
Kalrn	T	C	16: 34,040,610 (GRCm39)	H944R	probably damaging	Het
Kdm2a	A	T	19: 4,401,833 (GRCm39)	C207S	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Krt75	C	T	15: 101,481,956 (GRCm39)	G104D	possibly damaging	Het
Lnpk	A	T	2: 74,352,607 (GRCm39)	S358R	probably benign	Het
Map2	A	G	1: 66,456,022 (GRCm39)	T1512A	probably damaging	Het
Marchf10	T	A	11: 105,287,905 (GRCm39)	L132F	probably damaging	Het
Mfrp	G	A	9: 44,016,754 (GRCm39)	W65*	probably null	Het
Mgat5	A	G	1: 127,294,180 (GRCm39)	D174G	probably benign	Het
Miga2	T	A	2: 30,261,237 (GRCm39)	Y177*	probably null	Het
Mroh3	T	C	1: 136,113,213 (GRCm39)	D747G	probably damaging	Het
Muc5b	A	G	7: 141,417,571 (GRCm39)	T3506A	possibly damaging	Het
Myo7b	G	T	18: 32,107,165 (GRCm39)	P1277T	possibly damaging	Het
Naaa	C	T	5: 92,420,413 (GRCm39)		probably null	Het
Ndufs2	T	C	1: 171,062,889 (GRCm39)	D410G	possibly damaging	Het
Or51a25	A	G	7: 102,372,694 (GRCm39)		probably null	Het
Or5p78	T	A	7: 108,212,280 (GRCm39)	Y255*	probably null	Het
Or7e177	A	G	9: 20,211,666 (GRCm39)	I58V	probably benign	Het
Or8g35	A	G	9: 39,381,365 (GRCm39)	I219T	probably benign	Het
Osbp	A	T	19: 11,956,285 (GRCm39)	Y409F	probably benign	Het
Plxnb1	T	A	9: 108,938,355 (GRCm39)	V1303D	possibly damaging	Het
Prkcg	G	A	7: 3,362,263 (GRCm39)	D246N	probably damaging	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,169,203 (GRCm39)		probably benign	Het
Sbf1	G	A	15: 89,183,731 (GRCm39)	R1261*	probably null	Het
Scn4a	T	C	11: 106,235,100 (GRCm39)	N341S	probably damaging	Het
Sec61a2	C	A	2: 5,884,436 (GRCm39)		probably null	Het
Sgcd	T	A	11: 47,246,032 (GRCm39)	K57*	probably null	Het
Sinhcaf	A	G	6: 148,827,617 (GRCm39)	S134P	possibly damaging	Het
Slc12a5	T	C	2: 164,835,695 (GRCm39)	L861P	probably damaging	Het
Slc6a16	A	G	7: 44,909,386 (GRCm39)	D184G	probably benign	Het
Snx7	A	G	3: 117,632,639 (GRCm39)		probably benign	Het
Sptbn2	A	G	19: 4,795,950 (GRCm39)	I1710V	probably damaging	Het
Sytl2	A	T	7: 90,025,289 (GRCm39)	I426F	probably benign	Het
Tdp1	A	G	12: 99,858,011 (GRCm39)		probably benign	Het
Tmem232	C	A	17: 65,689,628 (GRCm39)	D496Y	possibly damaging	Het
Tomm20l	C	T	12: 71,158,516 (GRCm39)	A58V	possibly damaging	Het
Ttn	T	C	2: 76,775,618 (GRCm39)	E1854G	unknown	Het
Ttn	A	G	2: 76,804,552 (GRCm39)	V240A	probably benign	Het
Vmn2r98	A	T	17: 19,300,887 (GRCm39)	T630S	probably benign	Het
Xrcc1	G	C	7: 24,266,333 (GRCm39)	A220P	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
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'- CTGGAAGTAACTAGAAACTGTACCC -3'
(R):5'- CAGCATCAGTGGGCATTTCC -3'

Sequencing Primer
(F):5'- GTAACTAGAAACTGTACCCCATTG -3'
(R):5'- TTTCCAGGTTCCAGAACGAG -3'

Posted On

2015-03-25