Mutagenetix > Incidental Mutations

Incidental Mutation 'R4494:Camsap1'

330864

Institutional Source

Beutler Lab

Gene Symbol

Camsap1

Ensembl Gene

ENSMUSG00000026933

Gene Name

calmodulin regulated spectrin-associated protein 1

Synonyms

9530003A05Rik, PRO2405

MMRRC Submission

041582-MU

Accession Numbers

Genbank: NM_001115076; MGI: 3036242

Is this an essential gene?

Possibly non essential (E-score: 0.423) question?

Stock #

R4494 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25926838-25983282 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25952758 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 262 (D262G)

Ref Sequence

ENSEMBL: ENSMUSP00000117203 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091268] [ENSMUST00000114167] [ENSMUST00000134882] [ENSMUST00000139937] [ENSMUST00000183461]

Predicted Effect

probably damaging
Transcript: ENSMUST00000091268
AA Change: D242G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000088812
Gene: ENSMUSG00000026933
AA Change: D242G

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 damaging
Transcript: ENSMUST00000114167
AA Change: D242G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109804
Gene: ENSMUSG00000026933
AA Change: D242G

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

unknown
Transcript: ENSMUST00000134054
AA Change: D183G

SMART Domains

Protein: ENSMUSP00000121689
Gene: ENSMUSG00000026933
AA Change: D183G

Domain	Start	End	E-Value	Type
Blast:Beach	40	100	5e-6	BLAST
Pfam:CAMSAP_CH	170	253	1.4e-36	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000134882
AA Change: D262G

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

SMART Domains

Protein: ENSMUSP00000117203
Gene: ENSMUSG00000026933
AA Change: D262G

Domain	Start	End	E-Value	Type
Pfam:CH	185	350	1.3e-33	PFAM
Pfam:CAMSAP_CH	248	331	2.6e-34	PFAM
low complexity region	752	767	N/A	INTRINSIC
low complexity region	812	827	N/A	INTRINSIC
low complexity region	846	857	N/A	INTRINSIC
coiled coil region	889	925	N/A	INTRINSIC
coiled coil region	1030	1057	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139937

Predicted Effect

unknown
Transcript: ENSMUST00000142028
AA Change: D114G

SMART Domains

Protein: ENSMUSP00000119296
Gene: ENSMUSG00000026933
AA Change: D114G

Domain	Start	End	E-Value	Type
Pfam:CAMSAP_CH	101	164	7.5e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143977

Predicted Effect

unknown
Transcript: ENSMUST00000151593
AA Change: D101G

SMART Domains

Protein: ENSMUSP00000123541
Gene: ENSMUSG00000026933
AA Change: D101G

Domain	Start	End	E-Value	Type
Pfam:CAMSAP_CH	88	171	5.7e-37	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000183461
AA Change: D242G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139028
Gene: ENSMUSG00000026933
AA Change: D242G

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atf7ip	T	A	6: 136,563,749		probably null	Het
Cacna1b	T	C	2: 24,652,938	T1301A	probably damaging	Het
Calcr	A	T	6: 3,708,484		probably null	Het
Ccdc141	A	G	2: 77,132,297	V101A	probably damaging	Het
Ccdc170	T	C	10: 4,514,128	Y36H	probably damaging	Het
Cd177	A	T	7: 24,752,003	S492T	probably benign	Het
Chrna4	T	A	2: 181,028,488	I492F	probably damaging	Het
Cit	T	C	5: 115,873,984	Y217H	probably damaging	Het
Cnbd1	T	A	4: 19,098,150	D90V	probably benign	Het
Cryba2	A	G	1: 74,890,630	F116S	probably damaging	Het
Ctbp1	T	C	5: 33,250,869	T240A	possibly damaging	Het
D130043K22Rik	C	T	13: 24,871,356	S501L	probably benign	Het
Ddhd2	A	G	8: 25,738,234	F553S	probably benign	Het
Ddr2	C	A	1: 169,988,414	G575W	probably damaging	Het
Dip2c	T	C	13: 9,571,062	V537A	possibly damaging	Het
Dnah12	C	T	14: 26,871,855	A752V	probably damaging	Het
Dnah7a	T	C	1: 53,449,038	D3260G	probably benign	Het
Efemp2	T	A	19: 5,480,311	C309S	probably damaging	Het
Fam46a	A	G	9: 85,325,047	S233P	probably damaging	Het
Gse1	G	A	8: 120,570,814		probably benign	Het
Hspa4l	T	C	3: 40,753,204	S53P	possibly damaging	Het
Ighv5-4	T	C	12: 113,597,584	D72G	probably benign	Het
Igkv15-103	A	G	6: 68,437,796	N73S	probably benign	Het
Igsf11	T	G	16: 39,011,341	N183K	possibly damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906		probably benign	Het
Kcnk18	T	C	19: 59,234,831	V136A	probably damaging	Het
Krt75	A	T	15: 101,571,701	Y240*	probably null	Het
Lyst	G	A	13: 13,635,383	R546H	probably damaging	Het
Man2a2	C	T	7: 80,359,275		probably null	Het
Mme	A	G	3: 63,347,192	N491S	probably benign	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Msi2	T	C	11: 88,717,359	D39G	possibly damaging	Het
Naa60	T	A	16: 3,900,721	C122*	probably null	Het
Nes	A	G	3: 87,976,813	E793G	probably damaging	Het
Nfkb2	A	G	19: 46,308,439	D316G	probably damaging	Het
Nme6	C	T	9: 109,842,054	L121F	probably damaging	Het
Olfr1297	T	A	2: 111,621,148	K309*	probably null	Het
Otud1	C	T	2: 19,659,335	T425I	probably damaging	Het
Pimreg	T	C	11: 72,045,138	V149A	probably benign	Het
Plbd1	T	C	6: 136,613,858	I437V	probably damaging	Het
Prlhr	A	T	19: 60,467,081	M349K	probably benign	Het
Slc1a3	G	A	15: 8,639,095	T462I	probably damaging	Het
Slc25a26	A	G	6: 94,598,403	T198A	probably damaging	Het
Stkld1	A	G	2: 26,946,626	N268S	probably benign	Het
Svop	T	C	5: 114,045,627	T195A	probably damaging	Het
Syt6	A	G	3: 103,585,630	E66G	probably damaging	Het
Tas2r129	A	G	6: 132,951,354	I85V	probably benign	Het
Tprn	T	C	2: 25,268,892	S643P	probably damaging	Het
Ush2a	C	T	1: 188,553,276	T2003I	possibly damaging	Het
Vmn2r17	T	A	5: 109,428,469	V402E	probably damaging	Het
Vmn2r3	C	G	3: 64,275,271	G336R	probably damaging	Het
Wdr89	A	T	12: 75,632,747	D244E	probably damaging	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
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
R6043:Camsap1	UTSW	2	25929925	missense	probably benign	0.00
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
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'- ACACAGGGACTCCATGCTAC -3'
(R):5'- ATACAGTGTAGCCATGGACCCC -3'

Sequencing Primer
(F):5'- ACAGGGACTCCATGCTACTTCTC -3'
(R):5'- TCCAGGCAATATCATGTGGC -3'

Posted On

2015-07-21