Mutagenetix > Incidental Mutation

Incidental Mutation 'R9115:Ckap4'

692483

Institutional Source

Beutler Lab

Gene Symbol

Ckap4

Ensembl Gene

ENSMUSG00000046841

Gene Name

cytoskeleton-associated protein 4

Synonyms

P63, CLIMP-63, 5630400A09Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.244) question?

Stock #

R9115 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84362169-84369752 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84363507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 519 (V519M)

Ref Sequence

ENSEMBL: ENSMUSP00000050336 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053871] [ENSMUST00000167671]

AlphaFold

Q8BMK4

Predicted Effect

probably damaging
Transcript: ENSMUST00000053871
AA Change: V519M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050336
Gene: ENSMUSG00000046841
AA Change: V519M

Domain	Start	End	E-Value	Type
low complexity region	36	59	N/A	INTRINSIC
low complexity region	64	82	N/A	INTRINSIC
transmembrane domain	86	108	N/A	INTRINSIC
internal_repeat_1	191	233	1.28e-5	PROSPERO
internal_repeat_1	269	311	1.28e-5	PROSPERO
coiled coil region	338	362	N/A	INTRINSIC
coiled coil region	408	438	N/A	INTRINSIC
low complexity region	476	489	N/A	INTRINSIC
coiled coil region	537	575	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000167671
AA Change: V519M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130304
Gene: ENSMUSG00000046841
AA Change: V519M

Domain	Start	End	E-Value	Type
low complexity region	36	59	N/A	INTRINSIC
low complexity region	64	82	N/A	INTRINSIC
transmembrane domain	86	108	N/A	INTRINSIC
internal_repeat_1	191	233	1.28e-5	PROSPERO
internal_repeat_1	269	311	1.28e-5	PROSPERO
coiled coil region	338	362	N/A	INTRINSIC
coiled coil region	408	438	N/A	INTRINSIC
low complexity region	476	489	N/A	INTRINSIC
coiled coil region	537	575	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aire	T	C	10: 77,879,309 (GRCm39)	T17A		Het
Ankrd31	T	C	13: 96,940,773 (GRCm39)		probably null	Het
Brwd1	C	T	16: 95,848,314 (GRCm39)	R569K	probably damaging	Het
Capns1	A	T	7: 29,889,978 (GRCm39)	I177K	probably benign	Het
Ccdc182	A	G	11: 88,185,343 (GRCm39)	N141S	probably benign	Het
Celsr1	A	G	15: 85,803,217 (GRCm39)	W2441R	probably damaging	Het
Cftr	A	T	6: 18,235,310 (GRCm39)	R516S	probably damaging	Het
Col27a1	C	T	4: 63,231,974 (GRCm39)	P1277L	unknown	Het
Cspg4	T	C	9: 56,797,736 (GRCm39)	L1400P	probably damaging	Het
Cyp4f39	T	A	17: 32,711,296 (GRCm39)	F481Y	probably damaging	Het
Dmxl2	T	C	9: 54,309,011 (GRCm39)	I1913M	probably benign	Het
Dock10	T	C	1: 80,490,156 (GRCm39)	T1989A	probably damaging	Het
Eef2	CC	CCC	10: 81,014,603 (GRCm39)		probably null	Het
Fcgbpl1	G	A	7: 27,853,754 (GRCm39)	V1573I	possibly damaging	Het
Fshr	T	A	17: 89,292,948 (GRCm39)	I577F	probably damaging	Het
Gfm2	T	C	13: 97,301,707 (GRCm39)		probably null	Het
Gm12695	T	C	4: 96,657,846 (GRCm39)	N108D	possibly damaging	Het
Gm3285	T	A	10: 77,698,007 (GRCm39)	L52H	unknown	Het
Gm5930	A	T	14: 44,575,006 (GRCm39)	L95*	probably null	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Klhl26	A	G	8: 70,904,896 (GRCm39)	M338T	possibly damaging	Het
Lrrc4c	T	C	2: 97,459,686 (GRCm39)	I104T	probably benign	Het
Mapk10	A	T	5: 103,186,532 (GRCm39)	V60E		Het
Mfsd4b3-ps	T	A	10: 39,824,012 (GRCm39)	K83*	probably null	Het
Muc15	C	T	2: 110,562,089 (GRCm39)	T175I	probably damaging	Het
Nmu	G	A	5: 76,511,572 (GRCm39)		probably benign	Het
Nol4l	G	T	2: 153,253,638 (GRCm39)	T645K	probably damaging	Het
Nr2f1	A	G	13: 78,337,869 (GRCm39)	S416P	probably benign	Het
Ntn4	A	C	10: 93,569,675 (GRCm39)	I463L	probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or12k7	T	C	2: 36,959,052 (GRCm39)	L245P	probably damaging	Het
Or52h2	C	A	7: 103,838,931 (GRCm39)	C161F	possibly damaging	Het
Or8h8	T	A	2: 86,752,998 (GRCm39)	R293W	probably damaging	Het
Pccb	T	A	9: 100,869,908 (GRCm39)	N341I	probably damaging	Het
Pgm3	G	A	9: 86,447,662 (GRCm39)	L194F	probably damaging	Het
Prkra	T	A	2: 76,478,193 (GRCm39)	H3L	probably benign	Het
Rbm12	TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC	TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC	2: 155,938,030 (GRCm39)		probably benign	Het
Ryr1	T	A	7: 28,803,989 (GRCm39)	K600*	probably null	Het
Sema4d	A	T	13: 51,877,596 (GRCm39)	S79T	probably benign	Het
Slc37a1	T	C	17: 31,534,486 (GRCm39)	C53R	probably damaging	Het
Sptbn1	A	G	11: 30,087,526 (GRCm39)	I971T	probably damaging	Het
Tcstv1a	T	A	13: 120,355,453 (GRCm39)	I60F	possibly damaging	Het
Tdrkh	G	T	3: 94,335,598 (GRCm39)	C397F	possibly damaging	Het
Tecrl	A	T	5: 83,427,906 (GRCm39)	M314K	possibly damaging	Het
Ttn	T	C	2: 76,780,496 (GRCm39)	K1131R	unknown	Het
Uimc1	A	T	13: 55,198,584 (GRCm39)	Y531N	possibly damaging	Het
Usp5	A	G	6: 124,803,384 (GRCm39)	S39P	probably damaging	Het
Virma	A	G	4: 11,498,744 (GRCm39)	T62A	probably benign	Het
Vmn2r85	A	G	10: 130,254,153 (GRCm39)	Y844H	probably benign	Het
Yars1	T	C	4: 129,109,143 (GRCm39)	V458A	probably benign	Het
Zfp235	G	A	7: 23,841,453 (GRCm39)	C624Y	probably damaging	Het
Zfp712	A	T	13: 67,189,241 (GRCm39)	S429T	probably damaging	Het
Zmynd11	A	T	13: 9,743,495 (GRCm39)	D307E	probably damaging	Het

Other mutations in Ckap4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02591:Ckap4	APN	10	84,364,454 (GRCm39)	missense	probably damaging	1.00
IGL03251:Ckap4	APN	10	84,364,469 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Ckap4	UTSW	10	84,363,630 (GRCm39)	missense	probably damaging	0.99
R0866:Ckap4	UTSW	10	84,363,384 (GRCm39)	missense	probably damaging	1.00
R1462:Ckap4	UTSW	10	84,363,431 (GRCm39)	missense	probably damaging	1.00
R1462:Ckap4	UTSW	10	84,363,431 (GRCm39)	missense	probably damaging	1.00
R1734:Ckap4	UTSW	10	84,363,738 (GRCm39)	missense	probably benign
R2113:Ckap4	UTSW	10	84,369,387 (GRCm39)	missense	possibly damaging	0.79
R3723:Ckap4	UTSW	10	84,364,256 (GRCm39)	missense	probably damaging	1.00
R3958:Ckap4	UTSW	10	84,364,028 (GRCm39)	missense	probably benign	0.01
R4735:Ckap4	UTSW	10	84,369,384 (GRCm39)	missense	possibly damaging	0.69
R4746:Ckap4	UTSW	10	84,369,384 (GRCm39)	missense	possibly damaging	0.69
R4857:Ckap4	UTSW	10	84,369,352 (GRCm39)	missense	possibly damaging	0.73
R5308:Ckap4	UTSW	10	84,364,238 (GRCm39)	missense	probably benign	0.01
R5333:Ckap4	UTSW	10	84,363,474 (GRCm39)	missense	probably damaging	1.00
R5848:Ckap4	UTSW	10	84,369,354 (GRCm39)	missense	probably benign	0.02
R7383:Ckap4	UTSW	10	84,364,148 (GRCm39)	missense	probably damaging	1.00
R7402:Ckap4	UTSW	10	84,363,863 (GRCm39)	missense	probably damaging	0.99
R7453:Ckap4	UTSW	10	84,364,463 (GRCm39)	missense	probably damaging	1.00
R7757:Ckap4	UTSW	10	84,364,331 (GRCm39)	missense	probably damaging	1.00
R7966:Ckap4	UTSW	10	84,363,449 (GRCm39)	missense	probably damaging	1.00
R8098:Ckap4	UTSW	10	84,369,499 (GRCm39)	missense	probably damaging	0.96
R8337:Ckap4	UTSW	10	84,364,460 (GRCm39)	missense	probably damaging	1.00
R8932:Ckap4	UTSW	10	84,364,290 (GRCm39)	missense	probably benign	0.29
R9099:Ckap4	UTSW	10	84,369,402 (GRCm39)	missense	probably damaging	0.99
R9193:Ckap4	UTSW	10	84,363,350 (GRCm39)	missense	probably damaging	1.00
R9432:Ckap4	UTSW	10	84,363,543 (GRCm39)	missense	probably damaging	1.00
R9462:Ckap4	UTSW	10	84,363,924 (GRCm39)	missense	possibly damaging	0.92
R9592:Ckap4	UTSW	10	84,364,175 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACGCAGTTCACTTAGATCTTTTCATG -3'
(R):5'- AAACCTGGGCTCCTCATCTG -3'

Sequencing Primer
(F):5'- GGATCTTCTCAACTTTCAGAAACAAC -3'
(R):5'- CTGTCCAGCGACTTGAAGGAG -3'

Posted On

2021-12-30