Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02393:Camsap1'

293907

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: 0.401) question?

Stock #

IGL02393

Quality Score

Status

Chromosome

Chromosomal Location

25926838-25983282 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25938322 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 1130 (H1130R)

Ref Sequence

ENSEMBL: ENSMUSP00000109804 (fasta)

Gene Model

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

AlphaFold

A2AHC3

Predicted Effect

probably benign
Transcript: ENSMUST00000091268
AA Change: H1130R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000088812
Gene: ENSMUSG00000026933
AA Change: H1130R

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: H1130R

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000109804
Gene: ENSMUSG00000026933
AA Change: H1130R

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 benign
Transcript: ENSMUST00000183461
AA Change: H1130R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000139028
Gene: ENSMUSG00000026933
AA Change: H1130R

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	A	G	1: 105,687,368	I253M	probably damaging	Het
Adam32	A	T	8: 24,920,053	Y129N	probably damaging	Het
Afap1l2	T	C	19: 56,914,440	K695R	probably damaging	Het
Arhgap18	T	G	10: 26,877,183	S357R	probably benign	Het
Cdkl4	A	G	17: 80,560,415	F35L	probably damaging	Het
Crnn	A	G	3: 93,149,368	H487R	probably damaging	Het
Dcaf4	C	T	12: 83,530,031	P95L	probably damaging	Het
Deaf1	A	T	7: 141,313,333	V382E	possibly damaging	Het
Dph7	T	G	2: 24,966,597	V187G	possibly damaging	Het
Fat3	G	T	9: 15,988,412	C3108*	probably null	Het
Ggt5	T	C	10: 75,610,237		probably benign	Het
Kif26a	G	A	12: 112,172,664	V396M	probably damaging	Het
Med17	G	A	9: 15,277,667	R101*	probably null	Het
Mterf4	C	T	1: 93,302,879	V182I	possibly damaging	Het
Nsg1	T	C	5: 38,158,911	D32G	probably damaging	Het
Olfr175-ps1	A	G	16: 58,824,046	I221T	probably damaging	Het
Olfr788	T	C	10: 129,473,195	S168P	probably damaging	Het
Olfr808	T	A	10: 129,767,793	V99E	probably benign	Het
P3h2	T	C	16: 25,992,825	Y216C	probably damaging	Het
Pdzd9	A	C	7: 120,662,983	Y85*	probably null	Het
Prkdc	T	A	16: 15,816,758	V3589D	probably benign	Het
Qars	A	G	9: 108,514,329	T26A	probably benign	Het
Rhd	T	C	4: 134,884,095	S189P	probably benign	Het
Rhobtb1	A	T	10: 69,288,987	H555L	probably damaging	Het
Rogdi	G	A	16: 5,009,224	S306F	probably benign	Het
Slc25a25	C	T	2: 32,417,843	V259I	probably benign	Het
Srrm1	A	T	4: 135,321,414		probably benign	Het
Stkld1	T	C	2: 26,950,142	V408A	probably benign	Het
Thbs1	T	C	2: 118,123,099	V999A	possibly damaging	Het
Tmprss11d	T	A	5: 86,303,612	*280L	probably null	Het
Trim54	A	G	5: 31,131,980		probably benign	Het
Tspear	G	A	10: 77,836,573	R202H	probably damaging	Het
Vwa8	G	A	14: 79,182,977	G1706D	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
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

2015-04-16