Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01324:Camsap1'

74188

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Camsap1

Ensembl Gene

ENSMUSG00000026933

Gene Name

calmodulin regulated spectrin-associated protein 1

Synonyms

9530003A05Rik, PRO2405

Accession Numbers

Genbank: NM_001115076; MGI: 3036242

Essential gene?

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

Stock #

IGL01324

Quality Score

Status

Chromosome

Chromosomal Location

25926838-25983282 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 25933623 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 1472 (V1472L)

Ref Sequence

ENSEMBL: ENSMUSP00000139028 (fasta)

Gene Model

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

AlphaFold

A2AHC3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091268
AA Change: V1472L

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000088812
Gene: ENSMUSG00000026933
AA Change: V1472L

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

possibly damaging
Transcript: ENSMUST00000114167
AA Change: V1472L

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109804
Gene: ENSMUSG00000026933
AA Change: V1472L

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

probably benign
Transcript: ENSMUST00000134882

SMART Domains

Protein: ENSMUSP00000117203
Gene: ENSMUSG00000026933

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

noncoding transcript
Transcript: ENSMUST00000134970

Predicted Effect

probably benign
Transcript: ENSMUST00000143977

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148146

Predicted Effect

possibly damaging
Transcript: ENSMUST00000183461
AA Change: V1472L

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139028
Gene: ENSMUSG00000026933
AA Change: V1472L

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

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	G	A	19: 9,003,032	G560D	probably damaging	Het
Ap1g1	T	A	8: 109,832,782	D239E	possibly damaging	Het
Ap2a1	T	A	7: 44,905,696	T482S	probably damaging	Het
BC004004	T	C	17: 29,282,251	L58P	probably damaging	Het
Ces3b	A	T	8: 105,093,252	E569V	probably damaging	Het
Commd6	G	A	14: 101,640,302		probably benign	Het
Ddx54	A	G	5: 120,623,638	D493G	probably benign	Het
Dync1h1	C	T	12: 110,626,865	R1189C	probably damaging	Het
Ern2	T	A	7: 122,183,190	I68F	possibly damaging	Het
Eya4	A	G	10: 23,116,551		probably null	Het
Gda	A	T	19: 21,409,886	I325K	probably damaging	Het
Gmnn	T	C	13: 24,752,122	T190A	probably benign	Het
Hdac4	G	A	1: 91,959,415	P801S	probably damaging	Het
Hnrnph3	A	T	10: 63,018,124	*72K	probably null	Het
Hoxd12	A	T	2: 74,675,136	N17I	probably damaging	Het
Incenp	G	A	19: 9,883,728	R497C	unknown	Het
Iqsec1	C	A	6: 90,689,703	R584L	probably damaging	Het
Kcnip1	A	G	11: 33,645,603	M1T	probably null	Het
Kcnu1	T	A	8: 25,849,707	S18T	probably benign	Het
Lepr	T	A	4: 101,768,068	D473E	probably benign	Het
Nfkbiz	T	C	16: 55,815,804	T564A	probably damaging	Het
Nsd3	C	T	8: 25,662,820	T392I	probably damaging	Het
Olfr1490	T	C	19: 13,654,933	I163T	probably damaging	Het
Olfr713	T	C	7: 107,036,847	S231P	probably damaging	Het
P4ha2	A	G	11: 54,120,158	D333G	probably damaging	Het
Parg	T	C	14: 32,296,185		probably benign	Het
Psmc2	G	A	5: 21,800,009		probably null	Het
Rnf213	A	G	11: 119,447,237	Y3354C	probably damaging	Het
Siglec1	T	G	2: 131,085,541	D115A	probably damaging	Het
Slit3	G	T	11: 35,610,702	G421V	probably damaging	Het
Srgap3	T	A	6: 112,739,397	H590L	probably damaging	Het
Stk36	A	C	1: 74,625,610	T628P	possibly damaging	Het
Stx12	A	T	4: 132,863,265	M107K	probably benign	Het
Syne2	G	T	12: 76,043,752	V5105F	probably damaging	Het
Tecta	T	C	9: 42,345,431	S1650G	probably damaging	Het
Tlr1	T	C	5: 64,925,179	N685S	probably damaging	Het
Trio	A	G	15: 27,905,323	V60A	probably benign	Het
Ttyh3	G	A	5: 140,631,513	R334W	probably benign	Het
Ube2u	A	G	4: 100,479,225	E15G	possibly damaging	Het
Ush2a	G	T	1: 188,848,992	V3690L	probably benign	Het
Xab2	A	G	8: 3,621,232	V16A	possibly damaging	Het

Other mutations in Camsap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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
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

Posted On

2013-10-07