Mutagenetix > Incidental Mutations

Incidental Mutation 'R2048:Camsap1'

222177

Institutional Source

Beutler Lab

Gene Symbol

Camsap1

Ensembl Gene

ENSMUSG00000026933

Gene Name

calmodulin regulated spectrin-associated protein 1

Synonyms

9530003A05Rik, PRO2405

MMRRC Submission

040055-MU

Accession Numbers

Genbank: NM_001115076; MGI: 3036242

Is this an essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R2048 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25926838-25983282 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25929743 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1578 (T1578A)

Ref Sequence

ENSEMBL: ENSMUSP00000109804 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000091268
AA Change: T1577A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000088812
Gene: ENSMUSG00000026933
AA Change: T1577A

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: T1578A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000109804
Gene: ENSMUSG00000026933
AA Change: T1578A

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

noncoding transcript
Transcript: ENSMUST00000134970

Predicted Effect

probably benign
Transcript: ENSMUST00000143977

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148146

Predicted Effect

probably benign
Transcript: ENSMUST00000183461
AA Change: T1577A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000139028
Gene: ENSMUSG00000026933
AA Change: T1577A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (52/53)

Allele List at MGI

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

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	A	G	9: 70,740,075	D19G	possibly damaging	Het
Adhfe1	A	G	1: 9,563,553	K342R	probably benign	Het
Adk	A	G	14: 21,318,176	N223S	probably damaging	Het
Aff4	A	G	11: 53,398,385	S454G	probably benign	Het
Ahnak	T	A	19: 9,007,056	N1901K	probably damaging	Het
Ccdc63	A	C	5: 122,130,287		probably null	Het
Ceacam1	G	T	7: 25,476,688	S27Y	probably benign	Het
Cit	T	C	5: 115,886,813		probably null	Het
Cntn4	A	G	6: 106,437,864		probably benign	Het
Cyp2d26	A	G	15: 82,792,727		probably benign	Het
Cyp3a13	A	T	5: 137,909,975	V204E	probably damaging	Het
Cyp51	G	A	5: 4,086,636		probably benign	Het
Epb41l4b	T	G	4: 57,142,866	E96D	probably benign	Het
Epg5	A	G	18: 78,023,987	E2221G	probably damaging	Het
Fam69a	T	C	5: 107,910,020	D179G	probably damaging	Het
Fbxo21	T	A	5: 118,008,104	N597K	probably damaging	Het
Fpr-rs4	CAGGAA	CA	17: 18,022,334		probably null	Het
Fsip1	C	A	2: 118,241,716	E195D	probably damaging	Het
Gm10152	T	C	7: 144,763,312	F35L	unknown	Het
Gtpbp6	A	C	5: 110,107,065	V87G	probably damaging	Het
Hal	A	G	10: 93,491,140	T176A	probably damaging	Het
Il12rb2	G	T	6: 67,360,545	N117K	probably benign	Het
Kalrn	A	G	16: 34,252,310	V734A	probably benign	Het
Klf7	A	G	1: 64,078,754	V228A	possibly damaging	Het
Kng1	A	G	16: 23,058,604	Y54C	probably damaging	Het
Lpcat2	T	G	8: 92,869,843	N169K	possibly damaging	Het
Magohb	A	T	6: 131,289,422	S40R	probably damaging	Het
Mgam	A	G	6: 40,656,429	D186G	possibly damaging	Het
Mycbp2	A	G	14: 103,232,524		probably null	Het
Myh15	A	G	16: 49,155,565	D1332G	probably damaging	Het
Myh9	G	A	15: 77,771,132	T1208M	possibly damaging	Het
Ncor2	C	T	5: 125,084,932	R426H	unknown	Het
Nradd	T	C	9: 110,621,629	E160G	probably benign	Het
Olfr441	T	A	6: 43,116,378	M212K	probably benign	Het
Olfr819	G	A	10: 129,965,992	S230L	probably damaging	Het
Otog	A	T	7: 46,287,639	T1591S	probably damaging	Het
Oxsr1	A	G	9: 119,247,074	S389P	probably benign	Het
Pde3a	A	G	6: 141,489,006		probably benign	Het
Pi4k2b	A	T	5: 52,748,431	I105L	probably benign	Het
Pilrb1	T	C	5: 137,854,891	R217G	possibly damaging	Het
Poteg	A	T	8: 27,456,746	I159L	probably benign	Het
Ppargc1a	A	G	5: 51,548,516	F75S	probably damaging	Het
Ptk2b	T	G	14: 66,172,505	D466A	probably benign	Het
Ptpn21	A	G	12: 98,689,526	V394A	possibly damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,579,907		probably benign	Het
Shisa3	G	A	5: 67,611,308	E184K	possibly damaging	Het
Slc4a2	A	G	5: 24,431,559	H283R	probably damaging	Het
Slc9a3	A	G	13: 74,163,741	S603G	probably damaging	Het
Tas2r124	A	G	6: 132,754,895	I56V	possibly damaging	Het
Tbcd	G	T	11: 121,540,936	C470F	probably damaging	Het
Thsd1	A	G	8: 22,259,317	R674G	probably benign	Het
Zbtb11	T	A	16: 55,998,009	C599S	probably damaging	Het
Zfp541	A	G	7: 16,078,327	R302G	possibly 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
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
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'- ATGCCCATGAAAGCACAGG -3'
(R):5'- TCTACAAACTCACTGGCACGG -3'

Sequencing Primer
(F):5'- GGACTCACTCCTGCATATGTCATG -3'
(R):5'- ACGGGGCCAAAAAGCATC -3'

Posted On

2014-08-25