Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02167:Camsap1'

282762

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

Is this an essential gene?

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

Stock #

IGL02167

Quality Score

Status

Chromosome

Chromosomal Location

25926838-25983282 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25934300 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 1416 (R1416H)

Ref Sequence

ENSEMBL: ENSMUSP00000109804 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000091268
AA Change: R1416H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000088812
Gene: ENSMUSG00000026933
AA Change: R1416H

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: R1416H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109804
Gene: ENSMUSG00000026933
AA Change: R1416H

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

probably damaging
Transcript: ENSMUST00000183461
AA Change: R1416H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139028
Gene: ENSMUSG00000026933
AA Change: R1416H

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,122,722		probably benign	Het
Cacna1f	T	C	X: 7,616,019	Y581H	probably damaging	Het
Ccdc117	T	C	11: 5,531,333	E266G	possibly damaging	Het
Ccdc9	A	T	7: 16,284,359	L8*	probably null	Het
Cited2	T	C	10: 17,724,270	S109P	probably benign	Het
Cnot4	T	C	6: 35,056,224	D286G	possibly damaging	Het
Col5a1	T	C	2: 28,018,556	I52T	probably benign	Het
Cry2	T	C	2: 92,433,821	N68S	possibly damaging	Het
Cul4a	T	C	8: 13,122,826	F153S	probably damaging	Het
Ddr1	T	C	17: 35,690,071	S261G	possibly damaging	Het
Depdc5	G	A	5: 32,903,801	R324Q	probably damaging	Het
Dmgdh	A	G	13: 93,720,627		probably benign	Het
Epha8	A	T	4: 136,931,094	M990K	probably damaging	Het
Gpr137c	G	T	14: 45,279,955	G383C	probably damaging	Het
Hydin	T	A	8: 110,418,423	I802N	possibly damaging	Het
Ifne	A	G	4: 88,879,828	Y118H	possibly damaging	Het
Kansl2	T	C	15: 98,533,515		probably benign	Het
Lig4	T	A	8: 9,971,821	N653I	probably benign	Het
Nagk	A	G	6: 83,801,106	D246G	probably damaging	Het
Nav1	A	G	1: 135,470,961	S628P	probably damaging	Het
Ncoa3	A	G	2: 166,070,136	Y1401C	probably damaging	Het
Ndufa9	A	G	6: 126,844,785		probably benign	Het
Nynrin	G	T	14: 55,863,335	R194L	probably damaging	Het
Olfr1115	G	A	2: 87,252,198	C87Y	probably benign	Het
Olfr17	A	T	7: 107,097,661	R65S	probably benign	Het
Olfr45	T	A	7: 140,691,751	V282D	probably damaging	Het
Orc2	A	T	1: 58,483,639		probably benign	Het
Oxgr1	T	A	14: 120,021,930	R288S	probably damaging	Het
Prkcg	T	C	7: 3,322,581		probably null	Het
Prox1	T	C	1: 190,161,280	N323D	probably benign	Het
Prrt1	A	C	17: 34,631,855	E215A	possibly damaging	Het
Rab2b	T	C	14: 52,268,696	D103G	probably damaging	Het
Sardh	G	T	2: 27,191,975	N846K	probably damaging	Het
Slc38a8	T	A	8: 119,487,360	T248S	probably benign	Het
Slc6a18	T	C	13: 73,666,472		probably null	Het
Smcp	T	C	3: 92,584,199	T114A	unknown	Het
Tmem8	T	C	17: 26,119,071	S450P	probably damaging	Het
Trpv1	A	G	11: 73,254,797	N754D	probably damaging	Het
Txnrd1	A	T	10: 82,881,911	H243L	probably benign	Het
Wdfy3	T	C	5: 101,961,157	M125V	probably damaging	Het
Wnk2	T	C	13: 49,071,125		probably null	Het
Wrn	T	C	8: 33,317,555	M292V	probably damaging	Het
Zbtb17	T	C	4: 141,461,829	L20P	possibly damaging	Het
Zfp608	T	C	18: 54,988,224	H97R	probably damaging	Het
Zfp68	T	A	5: 138,606,367	M565L	probably benign	Het
Zfp687	T	C	3: 95,010,530	T644A	probably benign	Het
Zfp777	C	T	6: 48,044,526	G54D	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
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
Z1176:Camsap1	UTSW	2	25936639	missense	probably damaging	1.00
Z1176:Camsap1	UTSW	2	25940881	missense	probably benign	0.01

Posted On

2015-04-16