Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01555:Camsap1'

90699

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: 0.460) question?

Stock #

IGL01555

Quality Score

Status

Chromosome

Chromosomal Location

25926838-25983282 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25939393 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 773 (M773K)

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: M773K

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000088812
Gene: ENSMUSG00000026933
AA Change: M773K

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: M773K

PolyPhen 2 Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109804
Gene: ENSMUSG00000026933
AA Change: M773K

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

possibly damaging
Transcript: ENSMUST00000134882
AA Change: M793K

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117203
Gene: ENSMUSG00000026933
AA Change: M793K

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: M773K

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139028
Gene: ENSMUSG00000026933
AA Change: M773K

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,473,907	H372R	probably benign	Het
A3galt2	G	A	4: 128,762,058	C73Y	probably damaging	Het
Arid4a	C	T	12: 71,061,527		probably benign	Het
Ascc3	T	C	10: 50,750,522	V1706A	probably damaging	Het
Boll	A	G	1: 55,305,668		probably benign	Het
Dhx9	A	T	1: 153,459,566	D929E	probably damaging	Het
Ect2l	A	G	10: 18,130,730	L775P	probably damaging	Het
Fat2	A	T	11: 55,278,930	V3001D	probably damaging	Het
Gm8857	A	T	5: 10,949,084		probably benign	Het
Kcnh6	A	T	11: 106,017,619	I354F	probably damaging	Het
Nemp2	T	A	1: 52,641,043	V142E	probably damaging	Het
Nipal2	A	T	15: 34,600,118		probably benign	Het
Otop1	A	G	5: 38,302,845	Y585C	probably damaging	Het
Peli3	T	C	19: 4,935,058	T108A	probably damaging	Het
Pramel6	T	C	2: 87,510,785		probably benign	Het
Rbfa	G	A	18: 80,197,800	T83I	possibly damaging	Het
Sstr2	A	T	11: 113,625,619	I342F	probably benign	Het
Tll2	T	A	19: 41,086,366	I920L	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
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
Z1176:Camsap1	UTSW	2	25936639	missense	probably damaging	1.00
Z1176:Camsap1	UTSW	2	25940881	missense	probably benign	0.01

Posted On

2013-12-09