Mutagenetix > Incidental Mutation

Incidental Mutation 'R6043:Camsap1'

483645

Institutional Source

Beutler Lab

Gene Symbol

Camsap1

Ensembl Gene

ENSMUSG00000026933

Gene Name

calmodulin regulated spectrin-associated protein 1

Synonyms

9530003A05Rik, PRO2405

MMRRC Submission

044211-MU

Accession Numbers

Genbank: NM_001115076; MGI: 3036242

Essential gene?

Possibly non essential (E-score: 0.326) question?

Stock #

R6043 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25926838-25983282 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25929925 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1516 (Y1516C)

Ref Sequence

ENSEMBL: ENSMUSP00000139028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091268] [ENSMUST00000114167] [ENSMUST00000183461]

AlphaFold

A2AHC3

Predicted Effect

probably benign
Transcript: ENSMUST00000091268
AA Change: Y1516C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000088812
Gene: ENSMUSG00000026933
AA Change: Y1516C

Domain	Start	End	E-Value	Type
Pfam:CAMSAP_CH	228	311	3.3e-35	PFAM
low complexity region	732	747	N/A	INTRINSIC
low complexity region	792	807	N/A	INTRINSIC
low complexity region	826	837	N/A	INTRINSIC
Pfam:CAMSAP_CC1	859	917	3.8e-29	PFAM
coiled coil region	1010	1037	N/A	INTRINSIC
coiled coil region	1267	1336	N/A	INTRINSIC
low complexity region	1341	1353	N/A	INTRINSIC
low complexity region	1373	1390	N/A	INTRINSIC
low complexity region	1429	1439	N/A	INTRINSIC
CAMSAP_CKK	1442	1570	3.6e-85	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114167
AA Change: Y1517C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109804
Gene: ENSMUSG00000026933
AA Change: Y1517C

Domain	Start	End	E-Value	Type
Pfam:CH	185	330	5.4e-34	PFAM
Pfam:CAMSAP_CH	228	311	2.3e-34	PFAM
low complexity region	732	747	N/A	INTRINSIC
low complexity region	792	807	N/A	INTRINSIC
low complexity region	826	837	N/A	INTRINSIC
coiled coil region	869	905	N/A	INTRINSIC
coiled coil region	1010	1037	N/A	INTRINSIC
coiled coil region	1267	1336	N/A	INTRINSIC
low complexity region	1341	1353	N/A	INTRINSIC
low complexity region	1373	1390	N/A	INTRINSIC
low complexity region	1429	1439	N/A	INTRINSIC
CAMSAP_CKK	1442	1570	3.6e-85	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134970

Predicted Effect

probably benign
Transcript: ENSMUST00000143977

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148146

Predicted Effect

probably benign
Transcript: ENSMUST00000183461
AA Change: Y1516C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139028
Gene: ENSMUSG00000026933
AA Change: Y1516C

Domain	Start	End	E-Value	Type
Pfam:CH	185	330	5.4e-34	PFAM
Pfam:CAMSAP_CH	228	311	2.3e-34	PFAM
low complexity region	732	747	N/A	INTRINSIC
low complexity region	792	807	N/A	INTRINSIC
low complexity region	826	837	N/A	INTRINSIC
coiled coil region	869	905	N/A	INTRINSIC
coiled coil region	1010	1037	N/A	INTRINSIC
coiled coil region	1267	1336	N/A	INTRINSIC
low complexity region	1341	1353	N/A	INTRINSIC
low complexity region	1373	1390	N/A	INTRINSIC
low complexity region	1429	1439	N/A	INTRINSIC
CAMSAP_CKK	1442	1570	3.6e-85	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

Allele List at MGI

All alleles(4) : Targeted, other(2) Gene trapped(2)

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	T	C	1: 171,252,601	F44S	probably damaging	Het
Ap3b1	A	T	13: 94,476,993	T667S	probably benign	Het
BC027072	T	C	17: 71,750,042	D880G	probably damaging	Het
Ccl17	A	G	8: 94,810,472	M1V	probably null	Het
Cfhr1	T	A	1: 139,550,868	T255S	probably benign	Het
Clcn6	T	C	4: 148,008,788	N812D	probably damaging	Het
Cyp2b10	T	C	7: 25,917,339	F402L	probably damaging	Het
Dgkz	A	C	2: 91,935,889	S776A	probably benign	Het
Dnaaf2	A	T	12: 69,197,348	L313Q	probably damaging	Het
Dnah10	G	A	5: 124,801,860	G2728S	probably damaging	Het
Dnah7b	T	A	1: 46,139,789	M874K	probably benign	Het
Eef1akmt3	A	T	10: 127,033,278	L109Q	probably damaging	Het
Egf	A	G	3: 129,736,785	S243P	probably benign	Het
Fbxw21	T	C	9: 109,145,539	I304M	possibly damaging	Het
Fcgr4	T	C	1: 171,020,130	V99A	probably damaging	Het
Fhdc1	T	C	3: 84,448,886	E417G	probably damaging	Het
Flnc	G	T	6: 29,446,608	G939V	probably damaging	Het
Herc1	A	G	9: 66,408,154	M1173V	probably benign	Het
Hspa2	C	T	12: 76,406,322	H597Y	probably damaging	Het
Itgb4	C	T	11: 115,979,386	T64I	probably benign	Het
Kif16b	A	G	2: 142,711,900	S993P	probably damaging	Het
Kitl	T	A	10: 100,064,085	V84E	probably damaging	Het
Klra17	A	G	6: 129,872,187		probably null	Het
Map2k3	A	G	11: 60,946,746	D224G	probably benign	Het
Medag	T	G	5: 149,422,207	F4V	probably benign	Het
Mob3b	C	T	4: 34,985,993	V182I	probably benign	Het
Mvb12b	G	T	2: 33,874,390	T49K	probably damaging	Het
Naaladl2	A	G	3: 24,058,214	V568A	possibly damaging	Het
Nbea	T	C	3: 55,786,475	E2174G	probably benign	Het
Nmd3	T	C	3: 69,745,247	Y389H	probably benign	Het
Olfr1180	C	T	2: 88,412,245	E138K	probably benign	Het
Olfr309	A	G	7: 86,306,339	I258T	probably damaging	Het
Pcdh1	T	A	18: 38,203,274	N103Y	probably damaging	Het
Pcm1	A	G	8: 41,328,778	D1905G	possibly damaging	Het
Plcd1	A	G	9: 119,072,599	F619S	probably damaging	Het
Ptdss1	T	A	13: 66,963,369	D166E	probably damaging	Het
Rnf213	T	C	11: 119,442,101	V2713A	probably damaging	Het
Sema4f	T	C	6: 82,919,653	N200D	probably damaging	Het
Tjp1	A	T	7: 65,324,089	N472K	probably damaging	Het
Trav6n-5	T	C	14: 53,105,151	Y49H	probably benign	Het
Trbv2	A	G	6: 41,047,970	T107A	probably benign	Het
Unc13c	T	C	9: 73,736,651	N1177S	possibly damaging	Het
Vmn1r212	A	G	13: 22,884,088	V25A	probably damaging	Het
Zfhx4	T	G	3: 5,403,427	S2882A	probably benign	Het
Zswim5	A	C	4: 116,962,621	S408R	probably benign	Het

Other mutations in Camsap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Camsap1	APN	2	25933623	missense	possibly damaging	0.95
IGL01555:Camsap1	APN	2	25939393	missense	possibly damaging	0.81
IGL01667:Camsap1	APN	2	25945281	splice site	probably benign
IGL02167:Camsap1	APN	2	25934300	missense	probably damaging	1.00
IGL02191:Camsap1	APN	2	25929880	missense	probably damaging	0.97
IGL02285:Camsap1	APN	2	25929802	missense	probably damaging	1.00
IGL02393:Camsap1	APN	2	25938322	missense	probably benign	0.10
3-1:Camsap1	UTSW	2	25945178	missense	probably damaging	1.00
R0631:Camsap1	UTSW	2	25933647	missense	probably damaging	0.98
R0828:Camsap1	UTSW	2	25939085	missense	probably damaging	1.00
R1434:Camsap1	UTSW	2	25945178	missense	probably damaging	1.00
R1687:Camsap1	UTSW	2	25939615	missense	probably damaging	1.00
R2027:Camsap1	UTSW	2	25938526	missense	possibly damaging	0.51
R2048:Camsap1	UTSW	2	25929743	missense	probably benign	0.00
R3732:Camsap1	UTSW	2	25938344	missense	probably damaging	1.00
R4437:Camsap1	UTSW	2	25938646	missense	possibly damaging	0.89
R4494:Camsap1	UTSW	2	25952758	missense	probably damaging	1.00
R4888:Camsap1	UTSW	2	25935550	missense	probably benign	0.03
R5028:Camsap1	UTSW	2	25944556	missense	probably damaging	1.00
R5058:Camsap1	UTSW	2	25939363	missense	probably benign	0.01
R5105:Camsap1	UTSW	2	25940929	missense	probably damaging	1.00
R5121:Camsap1	UTSW	2	25935550	missense	probably benign	0.03
R5153:Camsap1	UTSW	2	25933618	missense	probably damaging	1.00
R5323:Camsap1	UTSW	2	25965811	missense	probably damaging	0.98
R6479:Camsap1	UTSW	2	25935862	missense	possibly damaging	0.88
R6502:Camsap1	UTSW	2	25956308	missense	probably damaging	1.00
R6571:Camsap1	UTSW	2	25939500	missense	possibly damaging	0.89
R7046:Camsap1	UTSW	2	25945189	missense	probably damaging	0.99
R7251:Camsap1	UTSW	2	25938886	missense	probably damaging	0.99
R8026:Camsap1	UTSW	2	25938202	missense	probably benign	0.17
R8133:Camsap1	UTSW	2	25934297	missense	probably damaging	0.99
R8152:Camsap1	UTSW	2	25940241	missense	probably damaging	1.00
R8158:Camsap1	UTSW	2	25944428	nonsense	probably null
R8325:Camsap1	UTSW	2	25939363	missense	probably benign	0.01
R8339:Camsap1	UTSW	2	25982805	missense	possibly damaging	0.74
R9187:Camsap1	UTSW	2	25930016	missense	probably damaging	1.00
R9379:Camsap1	UTSW	2	25956306	missense
R9419:Camsap1	UTSW	2	25955292	missense
R9525:Camsap1	UTSW	2	25953950	missense	probably benign
R9526:Camsap1	UTSW	2	25953950	missense	probably benign
R9776:Camsap1	UTSW	2	25938154	missense	probably benign	0.00
Z1176:Camsap1	UTSW	2	25936639	missense	probably damaging	1.00
Z1176:Camsap1	UTSW	2	25940881	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTTGCCATGGTCACTTACGAG -3'
(R):5'- TGGAACAATACCTACCCATTGGAC -3'

Sequencing Primer
(F):5'- CCATGGTCACTTACGAGTCTGG -3'
(R):5'- TTGGACAACAATGGGAATCTAGG -3'

Posted On

2017-07-14