Mutagenetix > Incidental Mutation

Incidental Mutation 'R9462:Ckap4'

714949

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 #

R9462 (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 84363924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 380 (E380K)

Ref Sequence

ENSEMBL: ENSMUSP00000050336 (fasta)

Gene Model

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

AlphaFold

Q8BMK4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053871
AA Change: E380K

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000050336
Gene: ENSMUSG00000046841
AA Change: E380K

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

possibly damaging
Transcript: ENSMUST00000167671
AA Change: E380K

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130304
Gene: ENSMUSG00000046841
AA Change: E380K

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	G	A	4: 103,092,964 (GRCm39)	T220I	probably benign	Het
Abca8b	T	A	11: 109,844,433 (GRCm39)	H928L		Het
Ahnak	A	T	19: 8,981,299 (GRCm39)	D861V	probably damaging	Het
Ahnak2	C	A	12: 112,750,655 (GRCm39)	R89L		Het
Aipl1	C	T	11: 71,928,253 (GRCm39)	G11D	probably damaging	Het
Anks6	A	G	4: 47,033,142 (GRCm39)	L573P	unknown	Het
Ano5	T	C	7: 51,235,200 (GRCm39)	V711A	probably benign	Het
Arl2bp	C	A	8: 95,398,755 (GRCm39)	A120D	probably damaging	Het
Asap1	A	G	15: 64,038,328 (GRCm39)	Y223H	probably damaging	Het
Atp7b	A	T	8: 22,490,160 (GRCm39)	M1151K	probably damaging	Het
B4galnt3	A	T	6: 120,271,438 (GRCm39)	L28Q	probably null	Het
Ccdc39	T	C	3: 33,868,519 (GRCm39)	K856E	probably benign	Het
Ccr9	A	G	9: 123,608,600 (GRCm39)	D94G	probably damaging	Het
Cdan1	A	G	2: 120,560,060 (GRCm39)	I368T	possibly damaging	Het
Cdhr17	G	T	5: 17,027,213 (GRCm39)	A379S		Het
Cfap54	T	C	10: 92,737,920 (GRCm39)	Q2326R	unknown	Het
Chrm3	T	C	13: 9,927,437 (GRCm39)	Y533C		Het
Cntnap2	T	C	6: 46,211,217 (GRCm39)	F544L	probably damaging	Het
Cwh43	A	G	5: 73,591,695 (GRCm39)	K596R	probably benign	Het
Cyp26c1	A	G	19: 37,681,634 (GRCm39)	E479G	probably damaging	Het
Deup1	A	G	9: 15,493,882 (GRCm39)	V420A	probably benign	Het
Dnah3	A	G	7: 119,551,523 (GRCm39)	V2932A	probably benign	Het
Dthd1	G	A	5: 63,039,626 (GRCm39)	R676H	probably benign	Het
Eef1e1	A	G	13: 38,838,997 (GRCm39)	L120P	probably damaging	Het
Elane	T	C	10: 79,723,883 (GRCm39)	S244P	probably benign	Het
Esp6	A	G	17: 40,876,315 (GRCm39)	E121G	probably benign	Het
Eya1	T	C	1: 14,299,775 (GRCm39)	E326G	probably damaging	Het
Fut2	G	T	7: 45,300,492 (GRCm39)	N93K	probably damaging	Het
Garin5b	A	G	7: 4,761,330 (GRCm39)	S461P		Het
Gm12695	A	G	4: 96,651,075 (GRCm39)	V126A	probably benign	Het
Gucy2g	A	G	19: 55,221,469 (GRCm39)		probably null	Het
Hbs1l	T	C	10: 21,218,304 (GRCm39)	V267A	probably damaging	Het
Hsd17b1	A	T	11: 100,969,806 (GRCm39)	N106I	possibly damaging	Het
Ino80d	G	A	1: 63,097,393 (GRCm39)	L939F	probably damaging	Het
Lilra6	A	G	7: 3,914,994 (GRCm39)	W505R	probably damaging	Het
Map3k14	T	A	11: 103,118,360 (GRCm39)	K609*	probably null	Het
Mark1	T	A	1: 184,651,868 (GRCm39)	K212N	probably damaging	Het
Muc5b	T	A	7: 141,415,216 (GRCm39)	C2721S		Het
Myh4	A	G	11: 67,141,811 (GRCm39)	D890G	possibly damaging	Het
Mylk2	T	G	2: 152,761,373 (GRCm39)	L492R	probably damaging	Het
Myt1	T	A	2: 181,467,729 (GRCm39)	Y1134*	probably null	Het
N4bp2	G	A	5: 65,947,898 (GRCm39)	G176D	probably benign	Het
Ncstn	A	C	1: 171,899,707 (GRCm39)	M325R	probably damaging	Het
Ndor1	C	T	2: 25,144,875 (GRCm39)		probably null	Het
Notch4	G	A	17: 34,806,667 (GRCm39)	R1868H	probably benign	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,850 (GRCm39)		probably benign	Het
Or2b2b	A	T	13: 21,859,015 (GRCm39)	V33E	probably benign	Het
Or8s16	T	A	15: 98,211,186 (GRCm39)	N82Y	possibly damaging	Het
Oxct2a	G	T	4: 123,216,441 (GRCm39)	D313E	probably damaging	Het
Pcdha2	T	A	18: 37,073,546 (GRCm39)	H392Q	probably benign	Het
Pcdhb20	T	G	18: 37,639,799 (GRCm39)	L775R	probably benign	Het
Pclo	A	G	5: 14,840,408 (GRCm39)	D1449G		Het
Pcx	A	G	19: 4,651,970 (GRCm39)	T73A	probably benign	Het
Pou6f2	A	G	13: 18,314,189 (GRCm39)	S395P	probably benign	Het
Prss35	C	G	9: 86,638,392 (GRCm39)	I387M		Het
Radil	C	A	5: 142,471,220 (GRCm39)	D1019Y	probably damaging	Het
Rnf40	G	T	7: 127,191,010 (GRCm39)		probably null	Het
Scarb1	A	T	5: 125,417,891 (GRCm39)	L19Q	probably damaging	Het
Scn8a	T	A	15: 100,930,159 (GRCm39)	F1457I		Het
Sdk2	C	T	11: 113,760,744 (GRCm39)	V339I	possibly damaging	Het
Siglec1	A	G	2: 130,916,404 (GRCm39)	L1182P	probably damaging	Het
Slc4a4	G	A	5: 89,194,131 (GRCm39)	V204I	probably damaging	Het
Sp9	T	C	2: 73,104,243 (GRCm39)	S266P	probably benign	Het
Spata21	A	G	4: 140,831,316 (GRCm39)	E421G	probably damaging	Het
Sulf1	C	T	1: 12,929,459 (GRCm39)	P242L	probably damaging	Het
Sval3	G	A	6: 41,945,105 (GRCm39)	G11E	possibly damaging	Het
Tecta	T	A	9: 42,248,576 (GRCm39)	Y1942F	probably damaging	Het
Thbs2	C	T	17: 14,890,243 (GRCm39)	G1121D	probably damaging	Het
Thrap3	G	T	4: 126,070,048 (GRCm39)	S613*	probably null	Het
Ttc34	A	C	4: 154,942,539 (GRCm39)	K59Q	probably damaging	Het
Tut7	A	T	13: 59,929,957 (GRCm39)	L1428H	possibly damaging	Het
Ube4b	A	T	4: 149,444,748 (GRCm39)	L504Q	probably damaging	Het
Uncx	A	T	5: 139,529,771 (GRCm39)	E8V	probably damaging	Het
Vmn1r79	A	T	7: 11,910,261 (GRCm39)	I48F	probably damaging	Het
Vmn2r99	C	A	17: 19,598,388 (GRCm39)	Y137*	probably null	Het
Zfp354b	G	A	11: 50,814,523 (GRCm39)	T134I	probably benign	Het
Zfp618	G	A	4: 63,051,510 (GRCm39)	V764I	possibly damaging	Het
Zfp873	T	G	10: 81,897,131 (GRCm39)	C621G	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
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
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
R9592:Ckap4	UTSW	10	84,364,175 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATGAGGAGCCCAGGTTTC -3'
(R):5'- ATGGAGTCCGACGTCTACACAG -3'

Sequencing Primer
(F):5'- AGCCCAGGTTTCCCACGTG -3'
(R):5'- AACTGGTGAGCCTCAAGC -3'

Posted On

2022-06-15