Mutagenetix > Incidental Mutation

Incidental Mutation 'R7978:Cnksr1'

651019

Institutional Source

Beutler Lab

Gene Symbol

Cnksr1

Ensembl Gene

ENSMUSG00000028841

Gene Name

connector enhancer of kinase suppressor of Ras 1

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.287) question?

Stock #

R7978 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

133955352-133965710 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133963342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 78 (N78D)

Ref Sequence

ENSEMBL: ENSMUSP00000030645 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030645]

AlphaFold

A2A9K7

Predicted Effect

probably damaging
Transcript: ENSMUST00000030645
AA Change: N78D

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

SMART Domains

Protein: ENSMUSP00000030645
Gene: ENSMUSG00000028841
AA Change: N78D

Domain	Start	End	E-Value	Type
SAM	4	70	1.44e-9	SMART
Pfam:CRIC_ras_sig	78	162	4.2e-26	PFAM
PDZ	206	276	1.48e-3	SMART
low complexity region	285	303	N/A	INTRINSIC
low complexity region	333	347	N/A	INTRINSIC
PH	388	488	4.38e-19	SMART
coiled coil region	596	624	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing several motifs involved in protein-protein interaction, including PDZ, PH (Pleckstrin homology), and SAM (sterile alpha motif) domains. The encoded protein acts as a scaffold component for receptor tyrosine kinase signaling and may mediate crosstalk between different signaling pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 77,036,515 (GRCm39)	I342N	probably damaging	Het
Alb	A	T	5: 90,619,932 (GRCm39)	N453I	possibly damaging	Het
Aox4	C	A	1: 58,274,366 (GRCm39)	S384Y	probably damaging	Het
Ap1g1	C	T	8: 110,564,399 (GRCm39)	R315*	probably null	Het
Cachd1	T	C	4: 100,832,060 (GRCm39)	Y741H	probably damaging	Het
Cacna2d2	C	G	9: 107,395,456 (GRCm39)	L661V	probably benign	Het
Ccdc90b	T	A	7: 92,216,921 (GRCm39)	H64Q	probably damaging	Het
Ccdc93	C	A	1: 121,426,960 (GRCm39)	N582K	possibly damaging	Het
Cdh20	A	G	1: 109,921,835 (GRCm39)		probably benign	Het
Cttnbp2nl	A	G	3: 104,915,307 (GRCm39)	V132A	probably damaging	Het
Cwc25	G	A	11: 97,644,044 (GRCm39)	Q230*	probably null	Het
Dsel	G	A	1: 111,787,449 (GRCm39)	R1029*	probably null	Het
Dspp	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	5: 104,326,227 (GRCm39)		probably benign	Het
Fam120a	T	C	13: 49,055,750 (GRCm39)	Y646C	probably damaging	Het
Hltf	T	C	3: 20,146,968 (GRCm39)	W576R	probably damaging	Het
Hmcn2	A	G	2: 31,279,359 (GRCm39)	N1787S	probably benign	Het
Ift122	A	G	6: 115,897,313 (GRCm39)	E904G	probably benign	Het
Igkv17-121	C	T	6: 68,013,806 (GRCm39)	T2I	unknown	Het
Ino80	T	G	2: 119,269,874 (GRCm39)	R590S	possibly damaging	Het
Intu	T	A	3: 40,652,069 (GRCm39)	I842N	probably damaging	Het
Itgae	A	T	11: 73,024,913 (GRCm39)	T1015S	probably damaging	Het
Kank1	GCGAACG	GCG	19: 25,388,569 (GRCm39)		probably null	Het
Kcna10	A	G	3: 107,101,663 (GRCm39)	E98G	probably damaging	Het
Kcnb2	T	A	1: 15,780,837 (GRCm39)	Y570N	probably benign	Het
Kmt2c	T	C	5: 25,564,676 (GRCm39)	I923V	probably benign	Het
Kptn	A	G	7: 15,859,697 (GRCm39)	D307G	probably damaging	Het
Myo3b	T	C	2: 70,083,458 (GRCm39)	Y704H	probably damaging	Het
Or12d13	A	G	17: 37,647,392 (GRCm39)	F244L	probably benign	Het
Or4c100	T	A	2: 88,356,014 (GRCm39)	L29*	probably null	Het
Or4c58	A	T	2: 89,674,611 (GRCm39)	C235*	probably null	Het
Or4f59	T	C	2: 111,872,523 (GRCm39)	T285A	possibly damaging	Het
Pmel	G	A	10: 128,551,819 (GRCm39)	V218M	probably damaging	Het
Prkar2b	T	C	12: 32,013,024 (GRCm39)	H364R	possibly damaging	Het
Psd4	T	C	2: 24,294,867 (GRCm39)	F809S	probably damaging	Het
Rabgap1l	A	G	1: 160,078,838 (GRCm39)	S59P		Het
Rgr	A	G	14: 36,766,645 (GRCm39)	F134L	probably benign	Het
Rspry1	G	T	8: 95,349,753 (GRCm39)	R47L	probably damaging	Het
Scd3	G	T	19: 44,222,688 (GRCm39)	E113*	probably null	Het
Slc22a12	G	A	19: 6,586,938 (GRCm39)	A476V	possibly damaging	Het
Smg1	T	C	7: 117,792,878 (GRCm39)	E560G	unknown	Het
Snx3	A	G	10: 42,378,346 (GRCm39)	D7G	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Tbc1d12	A	G	19: 38,905,285 (GRCm39)	M667V	probably benign	Het
Tbc1d30	A	T	10: 121,142,104 (GRCm39)	V81E	probably damaging	Het
Tbc1d9	A	T	8: 83,966,583 (GRCm39)	I395F	probably damaging	Het
Tes	C	A	6: 17,096,322 (GRCm39)	N103K	probably benign	Het
Tet2	T	C	3: 133,193,426 (GRCm39)	Y336C	possibly damaging	Het
Tgfbr3	T	C	5: 107,287,726 (GRCm39)	N491S	probably damaging	Het
Tomt	T	C	7: 101,549,554 (GRCm39)	I245V	probably damaging	Het
Trbc1	T	C	6: 41,515,236 (GRCm39)	L28P		Het
Trp63	T	C	16: 25,639,436 (GRCm39)	V208A	unknown	Het
Ttll8	G	T	15: 88,799,565 (GRCm39)	N625K	probably benign	Het
Ush2a	T	A	1: 188,132,135 (GRCm39)	W786R	probably benign	Het
Vmn2r97	A	T	17: 19,167,854 (GRCm39)	I703F	probably damaging	Het

Other mutations in Cnksr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00718:Cnksr1	APN	4	133,962,012 (GRCm39)	missense	probably benign	0.39
IGL01311:Cnksr1	APN	4	133,957,777 (GRCm39)	missense	probably damaging	1.00
IGL01872:Cnksr1	APN	4	133,956,275 (GRCm39)	missense	probably benign	0.13
IGL02082:Cnksr1	APN	4	133,963,363 (GRCm39)	missense	probably damaging	1.00
IGL02405:Cnksr1	APN	4	133,963,592 (GRCm39)	missense	possibly damaging	0.88
IGL02669:Cnksr1	APN	4	133,957,774 (GRCm39)	missense	probably damaging	0.98
IGL02948:Cnksr1	APN	4	133,962,417 (GRCm39)	splice site	probably null
IGL03037:Cnksr1	APN	4	133,962,417 (GRCm39)	splice site	probably null
IGL03381:Cnksr1	APN	4	133,959,482 (GRCm39)	missense	probably damaging	0.99
R0855:Cnksr1	UTSW	4	133,960,377 (GRCm39)	splice site	probably benign
R1958:Cnksr1	UTSW	4	133,955,727 (GRCm39)	missense	probably benign	0.02
R2049:Cnksr1	UTSW	4	133,956,939 (GRCm39)	missense	probably damaging	1.00
R2140:Cnksr1	UTSW	4	133,956,939 (GRCm39)	missense	probably damaging	1.00
R2141:Cnksr1	UTSW	4	133,956,939 (GRCm39)	missense	probably damaging	1.00
R2142:Cnksr1	UTSW	4	133,956,939 (GRCm39)	missense	probably damaging	1.00
R2389:Cnksr1	UTSW	4	133,961,057 (GRCm39)	missense	probably benign	0.03
R2495:Cnksr1	UTSW	4	133,959,473 (GRCm39)	missense	probably benign	0.00
R4596:Cnksr1	UTSW	4	133,961,189 (GRCm39)	missense	possibly damaging	0.90
R4668:Cnksr1	UTSW	4	133,960,282 (GRCm39)	intron	probably benign
R4896:Cnksr1	UTSW	4	133,956,986 (GRCm39)	splice site	probably null
R5367:Cnksr1	UTSW	4	133,957,525 (GRCm39)	missense	possibly damaging	0.94
R5673:Cnksr1	UTSW	4	133,962,499 (GRCm39)	missense	probably damaging	1.00
R5844:Cnksr1	UTSW	4	133,955,575 (GRCm39)	unclassified	probably benign
R6153:Cnksr1	UTSW	4	133,961,204 (GRCm39)	missense	probably damaging	1.00
R7207:Cnksr1	UTSW	4	133,962,434 (GRCm39)	missense	possibly damaging	0.75
R7261:Cnksr1	UTSW	4	133,963,084 (GRCm39)	splice site	probably null
R8310:Cnksr1	UTSW	4	133,956,730 (GRCm39)	missense	probably damaging	1.00
R8855:Cnksr1	UTSW	4	133,959,494 (GRCm39)	missense	probably damaging	1.00
R9019:Cnksr1	UTSW	4	133,959,365 (GRCm39)	missense	probably damaging	1.00
R9028:Cnksr1	UTSW	4	133,960,608 (GRCm39)	missense	possibly damaging	0.48
R9102:Cnksr1	UTSW	4	133,956,323 (GRCm39)	missense	probably damaging	1.00
R9310:Cnksr1	UTSW	4	133,956,330 (GRCm39)	missense	probably damaging	1.00
R9344:Cnksr1	UTSW	4	133,963,508 (GRCm39)	missense	probably damaging	1.00
R9435:Cnksr1	UTSW	4	133,961,885 (GRCm39)	missense	possibly damaging	0.94
Z1176:Cnksr1	UTSW	4	133,959,446 (GRCm39)	missense	probably damaging	1.00
Z1177:Cnksr1	UTSW	4	133,959,461 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGATTAGTCACTAGTCACCCATCC -3'
(R):5'- AAGTACCTGCTGCAGCTCTG -3'

Sequencing Primer
(F):5'- CCTAGTACCCGTTGAGCCAAGAG -3'
(R):5'- TGCAGCTCTGTCCCCAAAG -3'

Posted On

2020-09-15