Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02541:Cnksr3'

298240

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cnksr3

Ensembl Gene

ENSMUSG00000015202

Gene Name

Cnksr family member 3

Synonyms

Magi1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

IGL02541

Quality Score

Status

Chromosome

Chromosomal Location

7069063-7162237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7085073 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 258 (V258A)

Ref Sequence

ENSEMBL: ENSMUSP00000015346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015346] [ENSMUST00000150282]

AlphaFold

Q8BMA3

Predicted Effect

probably damaging
Transcript: ENSMUST00000015346
AA Change: V258A

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

SMART Domains

Protein: ENSMUSP00000015346
Gene: ENSMUSG00000015202
AA Change: V258A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000150282
AA Change: V17A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115863
Gene: ENSMUSG00000015202
AA Change: V17A

Domain	Start	End	E-Value	Type
Pfam:PDZ	1	49	6e-8	PFAM
low complexity region	70	88	N/A	INTRINSIC
Pfam:DUF1170	89	305	4.4e-90	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,113,881 (GRCm39)	L917F	possibly damaging	Het
Abca6	A	T	11: 110,103,093 (GRCm39)	W833R	probably damaging	Het
Asb15	T	A	6: 24,566,265 (GRCm39)	V406D	probably damaging	Het
Bcl9l	T	C	9: 44,419,066 (GRCm39)	V968A	probably benign	Het
Bend7	T	C	2: 4,768,116 (GRCm39)		probably null	Het
Cadm2	C	A	16: 66,679,770 (GRCm39)	G21V	possibly damaging	Het
Cadm2	C	A	16: 66,679,771 (GRCm39)		probably null	Het
Camta1	G	A	4: 151,169,112 (GRCm39)	T1191I	probably benign	Het
Cep152	C	T	2: 125,447,274 (GRCm39)	A425T	probably damaging	Het
Cep95	C	A	11: 106,706,407 (GRCm39)	Q554K	probably damaging	Het
Cgref1	A	G	5: 31,091,502 (GRCm39)		probably null	Het
Clock	T	A	5: 76,410,519 (GRCm39)		probably null	Het
Cmc2	A	G	8: 117,620,883 (GRCm39)	F33L	probably benign	Het
Col6a6	G	T	9: 105,609,415 (GRCm39)	N1624K	probably benign	Het
Cped1	T	C	6: 22,120,988 (GRCm39)	I356T	probably benign	Het
Dpy19l2	C	T	9: 24,569,943 (GRCm39)	V337I	probably benign	Het
E2f3	A	T	13: 30,100,827 (GRCm39)		probably null	Het
Eif1ad	A	G	19: 5,418,445 (GRCm39)		probably benign	Het
Fam114a2	A	T	11: 57,390,627 (GRCm39)	D302E	probably benign	Het
Fign	T	C	2: 63,809,881 (GRCm39)	N463S	probably benign	Het
Fzr1	T	C	10: 81,205,867 (GRCm39)	T220A	probably damaging	Het
Gm14496	G	A	2: 181,642,186 (GRCm39)	R619Q	probably benign	Het
Gm9966	T	C	7: 95,607,991 (GRCm39)	I104T	unknown	Het
Itgb7	G	T	15: 102,131,892 (GRCm39)	H230Q	probably benign	Het
Kif7	T	C	7: 79,360,628 (GRCm39)	H249R	possibly damaging	Het
Krtap4-2	T	G	11: 99,525,792 (GRCm39)	Q20P	unknown	Het
Mis18bp1	T	C	12: 65,208,234 (GRCm39)	T160A	probably damaging	Het
Mrps9	T	C	1: 42,901,814 (GRCm39)		probably null	Het
Mynn	T	A	3: 30,665,752 (GRCm39)	H461Q	probably damaging	Het
Naa25	A	G	5: 121,562,594 (GRCm39)	T459A	possibly damaging	Het
Niban3	A	T	8: 72,055,426 (GRCm39)	T279S	probably benign	Het
Notch1	C	T	2: 26,358,515 (GRCm39)	D1439N	probably benign	Het
Or2ag2b	A	G	7: 106,417,809 (GRCm39)	E173G	probably benign	Het
Pals2	A	G	6: 50,160,707 (GRCm39)	I323V	probably benign	Het
Pcdhb3	A	T	18: 37,435,198 (GRCm39)	D388V	probably damaging	Het
Pold3	C	T	7: 99,732,879 (GRCm39)	G417S	probably damaging	Het
Pwwp3a	G	A	10: 80,064,273 (GRCm39)		probably null	Het
Rad17	A	G	13: 100,769,951 (GRCm39)		probably benign	Het
Sh3glb1	T	C	3: 144,425,801 (GRCm39)	D5G	probably damaging	Het
Shank3	T	A	15: 89,385,613 (GRCm39)	Y167N	probably damaging	Het
Slc3a2	A	T	19: 8,685,123 (GRCm39)	Y292*	probably null	Het
Slc7a13	T	A	4: 19,839,212 (GRCm39)		probably benign	Het
Snx18	A	T	13: 113,731,302 (GRCm39)	I564N	probably damaging	Het
Supt6	G	A	11: 78,117,744 (GRCm39)	R491C	probably damaging	Het
Tanc1	G	T	2: 59,663,602 (GRCm39)	G1120C	probably damaging	Het
Tnrc6b	C	A	15: 80,764,032 (GRCm39)	D511E	probably benign	Het
Trio	A	G	15: 27,845,016 (GRCm39)		probably benign	Het
Trmt12	T	A	15: 58,745,651 (GRCm39)	W350R	probably benign	Het
Ttc1	T	C	11: 43,629,648 (GRCm39)	T173A	probably benign	Het
Ttc39d	C	A	17: 80,523,875 (GRCm39)	T178K	probably damaging	Het
Ufl1	T	A	4: 25,250,534 (GRCm39)	E693V	possibly damaging	Het
Vamp2	G	T	11: 68,979,977 (GRCm39)	E16D	unknown	Het
Vmn2r-ps158	T	A	7: 42,673,092 (GRCm39)		probably benign	Het
Wdr70	C	T	15: 7,913,783 (GRCm39)	W622*	probably null	Het
Zfp28	C	T	7: 6,396,479 (GRCm39)	Q305*	probably null	Het
Zfp653	C	A	9: 21,967,079 (GRCm39)	R602L	probably damaging	Het
Zzef1	T	A	11: 72,763,475 (GRCm39)	V1374E	probably damaging	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
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
R1847:Cnksr3	UTSW	10	7,104,324 (GRCm39)	missense	probably benign	0.01
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

Posted On

2015-04-16