Mutagenetix > Incidental Mutation

Incidental Mutation 'R1734:Ckap4'

199581

Institutional Source

Beutler Lab

Gene Symbol

Ckap4

Ensembl Gene

ENSMUSG00000046841

Gene Name

cytoskeleton-associated protein 4

Synonyms

P63, CLIMP-63, 5630400A09Rik

MMRRC Submission

039766-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.228) question?

Stock #

R1734 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

84362169-84369752 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84363738 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 442 (S442P)

Ref Sequence

ENSEMBL: ENSMUSP00000130304 (fasta)

Gene Model

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

AlphaFold

Q8BMK4

Predicted Effect

probably benign
Transcript: ENSMUST00000053871
AA Change: S442P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000050336
Gene: ENSMUSG00000046841
AA Change: S442P

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 benign
Transcript: ENSMUST00000167671
AA Change: S442P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000130304
Gene: ENSMUSG00000046841
AA Change: S442P

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

noncoding transcript
Transcript: ENSMUST00000215920

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 92.9%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	T	4: 144,396,596 (GRCm39)	C379S	probably benign	Het
Abca13	T	C	11: 9,535,460 (GRCm39)	C4695R	probably benign	Het
Actr10	T	A	12: 71,008,770 (GRCm39)	V401E	probably benign	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Aimp1	A	T	3: 132,380,557 (GRCm39)	I59K	probably damaging	Het
Alms1	T	A	6: 85,618,532 (GRCm39)		probably null	Het
Anln	A	T	9: 22,262,251 (GRCm39)	S947T	possibly damaging	Het
Atp2c1	T	C	9: 105,291,854 (GRCm39)	T733A	probably damaging	Het
BC049715	C	T	6: 136,817,306 (GRCm39)	P182L	probably damaging	Het
Cblb	T	C	16: 52,006,603 (GRCm39)		probably benign	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Chac1	A	T	2: 119,183,939 (GRCm39)	L180F	probably damaging	Het
Cherp	A	T	8: 73,223,932 (GRCm39)		probably null	Het
Clstn3	G	A	6: 124,413,773 (GRCm39)		probably benign	Het
Crb2	T	A	2: 37,683,668 (GRCm39)	C1057S	probably damaging	Het
Dact2	T	C	17: 14,416,901 (GRCm39)	D433G	probably benign	Het
Dnah6	G	A	6: 73,021,744 (GRCm39)	T3526M	probably damaging	Het
Ethe1	A	G	7: 24,307,809 (GRCm39)	T210A	probably benign	Het
Fat2	A	G	11: 55,172,197 (GRCm39)	S2839P	probably benign	Het
Fbxl7	T	C	15: 26,543,735 (GRCm39)	Y304C	probably damaging	Het
Gad1-ps	A	T	10: 99,281,637 (GRCm39)		noncoding transcript	Het
Grm3	C	T	5: 9,639,742 (GRCm39)	R101K	probably benign	Het
Hspa12b	A	G	2: 130,980,456 (GRCm39)	Y125C	possibly damaging	Het
Il10ra	T	C	9: 45,167,241 (GRCm39)	T437A	probably benign	Het
Itprid2	G	A	2: 79,488,166 (GRCm39)	V750M	probably damaging	Het
Jcad	T	C	18: 4,674,526 (GRCm39)	F763L	probably damaging	Het
Map3k10	T	C	7: 27,357,540 (GRCm39)	D746G	probably damaging	Het
Mettl9	T	A	7: 120,647,064 (GRCm39)	Y57N	probably damaging	Het
Nav2	G	A	7: 49,225,468 (GRCm39)	E1803K	probably damaging	Het
Nol11	G	A	11: 107,066,449 (GRCm39)	S447L	possibly damaging	Het
Or14a256	C	T	7: 86,265,425 (GRCm39)	V143M	probably benign	Het
Osbpl1a	T	C	18: 12,921,373 (GRCm39)		probably null	Het
Pde6a	A	G	18: 61,419,036 (GRCm39)	N804S	probably damaging	Het
Pepd	A	T	7: 34,730,851 (GRCm39)	D301V	probably benign	Het
Piwil2	A	T	14: 70,663,954 (GRCm39)		probably null	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Prrc2a	A	G	17: 35,369,683 (GRCm39)	S1877P	possibly damaging	Het
Retreg2	G	T	1: 75,119,630 (GRCm39)		probably null	Het
Slc7a11	G	A	3: 50,326,795 (GRCm39)	Q489*	probably null	Het
Sned1	G	A	1: 93,187,490 (GRCm39)	D256N	probably damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Spmip9	T	A	6: 70,890,645 (GRCm39)	Q49L	probably benign	Het
Syce2	G	A	8: 85,613,776 (GRCm39)	E168K	probably benign	Het
Tmem260	G	T	14: 48,746,550 (GRCm39)	V609L	probably benign	Het
Trim35	A	G	14: 66,546,778 (GRCm39)	D515G	probably damaging	Het
Tspan5	T	C	3: 138,603,901 (GRCm39)	Y131H	probably damaging	Het
Ttbk2	T	C	2: 120,586,319 (GRCm39)	I466V	probably benign	Het
Ttn	T	C	2: 76,576,157 (GRCm39)	D24912G	probably damaging	Het
Utp20	A	T	10: 88,603,323 (GRCm39)	N1843K	probably damaging	Het
Vmn1r20	A	G	6: 57,409,285 (GRCm39)	R204G	probably damaging	Het
Vps18	A	T	2: 119,124,423 (GRCm39)	Q450L	probably benign	Het
Zbtb4	A	G	11: 69,667,289 (GRCm39)	E198G	probably benign	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
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
R9115:Ckap4	UTSW	10	84,363,507 (GRCm39)	missense	probably damaging	1.00
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'- AGTCTGACTCCACTTGGCTCACTG -3'
(R):5'- GACTCCAAAGCCTTAGAGGAACTGC -3'

Sequencing Primer
(F):5'- AGTCTGTCCAGGAAGTCCTGAG -3'
(R):5'- CAGAGGCAGATTGAGGGC -3'

Posted On

2014-05-23