Mutagenetix > Incidental Mutation

Incidental Mutation 'R1847:Cnksr3'

207811

Institutional Source

Beutler Lab

Gene Symbol

Cnksr3

Ensembl Gene

ENSMUSG00000015202

Gene Name

Cnksr family member 3

Synonyms

Magi1

MMRRC Submission

039872-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R1847 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7069063-7162237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7104324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 126 (E126D)

Ref Sequence

ENSEMBL: ENSMUSP00000015346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015346]

AlphaFold

Q8BMA3

Predicted Effect

probably benign
Transcript: ENSMUST00000015346
AA Change: E126D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000015346
Gene: ENSMUSG00000015202
AA Change: E126D

Domain	Start	End	E-Value	Type
SAM	4	72	7.25e-15	SMART
Pfam:CRIC_ras_sig	80	172	3.3e-39	PFAM
PDZ	221	293	4.65e-10	SMART
low complexity region	311	329	N/A	INTRINSIC
Pfam:DUF1170	332	545	3.6e-104	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.2%

Validation Efficiency

97% (68/70)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	C	A	16: 14,263,313 (GRCm39)	R758S	probably benign	Het
Acnat1	A	T	4: 49,447,716 (GRCm39)	H288Q	possibly damaging	Het
Adamts1	T	C	16: 85,599,114 (GRCm39)	E162G	possibly damaging	Het
Akap11	A	G	14: 78,751,101 (GRCm39)	S429P	probably benign	Het
Alg14	T	C	3: 121,155,415 (GRCm39)	Y212H	probably damaging	Het
Cacna1g	T	C	11: 94,357,007 (GRCm39)	T97A	probably damaging	Het
Ccdc112	T	A	18: 46,420,821 (GRCm39)	N310Y	possibly damaging	Het
Cenpl	A	T	1: 160,913,574 (GRCm39)	Y328F	probably damaging	Het
Cep162	G	A	9: 87,086,133 (GRCm39)	H1064Y	probably benign	Het
Ctsh	T	A	9: 89,943,618 (GRCm39)	M81K	probably benign	Het
D6Wsu163e	A	G	6: 126,932,112 (GRCm39)	T284A	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnaaf1	T	A	8: 120,309,616 (GRCm39)	M196K	probably benign	Het
Dnah9	C	A	11: 65,725,212 (GRCm39)	G4314C	probably damaging	Het
Dph1	A	G	11: 75,070,557 (GRCm39)	Y361H	probably damaging	Het
Ect2	C	T	3: 27,204,221 (GRCm39)	M29I	probably benign	Het
Eif3h	T	C	15: 51,661,066 (GRCm39)	Y167C	probably damaging	Het
Epc2	C	T	2: 49,422,101 (GRCm39)	R332C	probably damaging	Het
Fras1	C	A	5: 96,897,282 (GRCm39)		probably null	Het
Gfm2	A	G	13: 97,299,442 (GRCm39)	I386V	probably benign	Het
Gpd1l	G	A	9: 114,743,399 (GRCm39)	T167I	probably damaging	Het
Hsph1	T	A	5: 149,546,950 (GRCm39)	K567*	probably null	Het
Igfn1	T	G	1: 135,897,126 (GRCm39)	S1147R	probably benign	Het
Itgb4	T	C	11: 115,874,590 (GRCm39)	V406A	probably benign	Het
Kcna2	A	G	3: 107,012,429 (GRCm39)	I337V	possibly damaging	Het
Kcnab1	T	C	3: 65,209,615 (GRCm39)		probably null	Het
Kri1	G	T	9: 21,191,788 (GRCm39)		probably benign	Het
Lrguk	T	A	6: 34,110,322 (GRCm39)	I801K	possibly damaging	Het
Magi2	A	T	5: 20,807,458 (GRCm39)	N871Y	probably damaging	Het
Map3k10	G	T	7: 27,360,981 (GRCm39)		probably null	Het
Mrps25	T	C	6: 92,155,721 (GRCm39)	T71A	probably damaging	Het
Myo15a	G	A	11: 60,390,321 (GRCm39)	W945*	probably null	Het
Ncan	A	T	8: 70,555,104 (GRCm39)	I1021N	probably damaging	Het
Ncf4	C	A	15: 78,134,582 (GRCm39)	S11R	probably benign	Het
Neb	A	C	2: 52,086,307 (GRCm39)	S5255R	possibly damaging	Het
Nop2	TGATGAAGATGAAGATGA	TGATGAAGATGA	6: 125,114,042 (GRCm39)		probably benign	Het
Or4c102	G	A	2: 88,422,516 (GRCm39)	A123T	probably damaging	Het
Or5ak22	A	T	2: 85,230,785 (GRCm39)	F31I	probably damaging	Het
Or5d16	T	C	2: 87,773,065 (GRCm39)		probably null	Het
Pacs1	T	C	19: 5,203,742 (GRCm39)	I328V	probably damaging	Het
Pafah2	GCCCC	GCCCCC	4: 134,152,852 (GRCm39)		probably null	Het
Pan2	A	G	10: 128,140,247 (GRCm39)	H56R	possibly damaging	Het
Pigo	G	A	4: 43,024,710 (GRCm39)	R124*	probably null	Het
Ppfia2	A	G	10: 106,763,571 (GRCm39)	D1188G	probably benign	Het
Ppp1r16b	A	G	2: 158,603,355 (GRCm39)	N327D	probably damaging	Het
Psd3	A	G	8: 68,172,656 (GRCm39)	C223R	possibly damaging	Het
Rad50	A	G	11: 53,592,934 (GRCm39)	V72A	possibly damaging	Het
Rcor3	T	A	1: 191,785,133 (GRCm39)	D445V	possibly damaging	Het
Rundc1	T	A	11: 101,324,507 (GRCm39)	H404Q	probably benign	Het
Ryr1	T	C	7: 28,779,236 (GRCm39)	K2083E	probably benign	Het
Scd3	C	A	19: 44,224,281 (GRCm39)	H171Q	probably damaging	Het
Scrn2	T	C	11: 96,923,021 (GRCm39)	F155L	probably benign	Het
Serpina12	A	T	12: 103,998,769 (GRCm39)	L323Q	probably damaging	Het
Sptlc3	T	A	2: 139,467,843 (GRCm39)	M467K	probably benign	Het
Stard9	G	T	2: 120,528,970 (GRCm39)	R1742S	possibly damaging	Het
Thbd	A	T	2: 148,249,604 (GRCm39)	L88*	probably null	Het
Tln2	G	A	9: 67,269,969 (GRCm39)	Q477*	probably null	Het
Tnn	T	A	1: 159,943,752 (GRCm39)	E1020D	possibly damaging	Het
Trip12	A	T	1: 84,726,990 (GRCm39)	H3Q	probably damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Vmp1	G	A	11: 86,534,413 (GRCm39)	Q165*	probably null	Het
Zfp758	T	A	17: 22,594,204 (GRCm39)	M230K	probably benign	Het

Other mutations in Cnksr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01303:Cnksr3	APN	10	7,104,281 (GRCm39)	critical splice donor site	probably null
IGL01583:Cnksr3	APN	10	7,070,512 (GRCm39)	missense	probably benign
IGL02374:Cnksr3	APN	10	7,070,335 (GRCm39)	missense	probably damaging	1.00
IGL02541:Cnksr3	APN	10	7,085,073 (GRCm39)	missense	probably damaging	1.00
IGL02551:Cnksr3	APN	10	7,102,912 (GRCm39)	missense	probably damaging	1.00
IGL02975:Cnksr3	APN	10	7,088,354 (GRCm39)	critical splice donor site	probably null
R0652:Cnksr3	UTSW	10	7,070,463 (GRCm39)	missense	probably damaging	1.00
R1451:Cnksr3	UTSW	10	7,076,830 (GRCm39)	missense	probably null	0.93
R1453:Cnksr3	UTSW	10	7,079,132 (GRCm39)	missense	probably benign	0.00
R1852:Cnksr3	UTSW	10	7,070,539 (GRCm39)	missense	probably benign	0.06
R3002:Cnksr3	UTSW	10	7,102,856 (GRCm39)	splice site	probably benign
R4621:Cnksr3	UTSW	10	7,076,182 (GRCm39)	missense	possibly damaging	0.85
R4835:Cnksr3	UTSW	10	7,110,757 (GRCm39)	missense	possibly damaging	0.76
R4941:Cnksr3	UTSW	10	7,102,925 (GRCm39)	missense	probably benign	0.07
R4981:Cnksr3	UTSW	10	7,110,777 (GRCm39)	missense	probably benign	0.00
R5000:Cnksr3	UTSW	10	7,076,746 (GRCm39)	nonsense	probably null
R5001:Cnksr3	UTSW	10	7,076,746 (GRCm39)	nonsense	probably null
R5267:Cnksr3	UTSW	10	7,076,633 (GRCm39)	critical splice donor site	probably null
R5322:Cnksr3	UTSW	10	7,085,078 (GRCm39)	missense	probably damaging	1.00
R5623:Cnksr3	UTSW	10	7,070,548 (GRCm39)	missense	probably damaging	1.00
R5853:Cnksr3	UTSW	10	7,092,977 (GRCm39)	missense	probably benign	0.09
R5930:Cnksr3	UTSW	10	7,092,993 (GRCm39)	missense	probably benign
R6459:Cnksr3	UTSW	10	7,076,820 (GRCm39)	missense	probably benign	0.00
R6893:Cnksr3	UTSW	10	7,085,129 (GRCm39)	splice site	probably null
R6941:Cnksr3	UTSW	10	7,076,758 (GRCm39)	missense	probably damaging	1.00
R6949:Cnksr3	UTSW	10	7,110,757 (GRCm39)	missense	probably benign	0.02
R7075:Cnksr3	UTSW	10	7,102,931 (GRCm39)	missense	probably benign	0.33
R7487:Cnksr3	UTSW	10	7,085,097 (GRCm39)	missense	probably benign	0.01
R8165:Cnksr3	UTSW	10	7,104,467 (GRCm39)	missense	probably damaging	0.99
R8181:Cnksr3	UTSW	10	7,070,475 (GRCm39)	missense	possibly damaging	0.94
R8472:Cnksr3	UTSW	10	7,084,532 (GRCm39)	missense	probably damaging	0.98
R8885:Cnksr3	UTSW	10	7,090,201 (GRCm39)	unclassified	probably benign
R8887:Cnksr3	UTSW	10	7,104,467 (GRCm39)	missense	probably damaging	0.99
R8930:Cnksr3	UTSW	10	7,110,780 (GRCm39)	missense	probably damaging	1.00
R8932:Cnksr3	UTSW	10	7,110,780 (GRCm39)	missense	probably damaging	1.00
R9195:Cnksr3	UTSW	10	7,088,379 (GRCm39)	missense	probably damaging	1.00
R9617:Cnksr3	UTSW	10	7,079,021 (GRCm39)	critical splice donor site	probably null
Z1176:Cnksr3	UTSW	10	7,084,544 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAACGTCTACCTCTGACCCCTG -3'
(R):5'- CTAAGTCATTCTGAGTTTAGGCAGTG -3'

Sequencing Primer
(F):5'- CTGGCCCCTGAATTCCAG -3'
(R):5'- CAGTGGTGGTAGTTTTGCAC -3'

Posted On

2014-06-23