Mutagenetix > Incidental Mutation

Incidental Mutation 'R6502:Camsap1'

519761

Institutional Source

Beutler Lab

Gene Symbol

Camsap1

Ensembl Gene

ENSMUSG00000026933

Gene Name

calmodulin regulated spectrin-associated protein 1

Synonyms

9530003A05Rik, PRO2405

MMRRC Submission

044634-MU

Accession Numbers

Genbank: NM_001115076; MGI: 3036242

Essential gene?

Possibly non essential (E-score: 0.369) question?

Stock #

R6502 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25926838-25983282 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25956308 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 201 (E201G)

Ref Sequence

ENSEMBL: ENSMUSP00000139028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091268] [ENSMUST00000114167] [ENSMUST00000134882] [ENSMUST00000139937] [ENSMUST00000183461]

AlphaFold

A2AHC3

Predicted Effect

probably damaging
Transcript: ENSMUST00000091268
AA Change: E201G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088812
Gene: ENSMUSG00000026933
AA Change: E201G

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: E201G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109804
Gene: ENSMUSG00000026933
AA Change: E201G

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

unknown
Transcript: ENSMUST00000134054
AA Change: E131G

SMART Domains

Protein: ENSMUSP00000121689
Gene: ENSMUSG00000026933
AA Change: E131G

Domain	Start	End	E-Value	Type
Blast:Beach	40	100	5e-6	BLAST
Pfam:CAMSAP_CH	170	253	1.4e-36	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134882
AA Change: E201G

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000117203
Gene: ENSMUSG00000026933
AA Change: E201G

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

probably benign
Transcript: ENSMUST00000139937

Predicted Effect

probably benign
Transcript: ENSMUST00000142028

SMART Domains

Protein: ENSMUSP00000119296
Gene: ENSMUSG00000026933

Domain	Start	End	E-Value	Type
Pfam:CAMSAP_CH	101	164	7.5e-28	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000143977
AA Change: E88G

Predicted Effect

unknown
Transcript: ENSMUST00000151593
AA Change: E36G

SMART Domains

Protein: ENSMUSP00000123541
Gene: ENSMUSG00000026933
AA Change: E36G

Domain	Start	End	E-Value	Type
Pfam:CAMSAP_CH	88	171	5.7e-37	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000183461
AA Change: E201G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139028
Gene: ENSMUSG00000026933
AA Change: E201G

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

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	T	6: 124,356,949	I24K	probably benign	Het
Adamts9	A	T	6: 92,872,335	C467S	probably damaging	Het
Adcy7	G	A	8: 88,325,479	R925Q	probably damaging	Het
Akap6	G	A	12: 53,140,215	G1471S	probably damaging	Het
Ap2b1	T	C	11: 83,342,679	V506A	probably damaging	Het
Apob	A	G	12: 8,001,814	I1113M	probably damaging	Het
Arsg	A	T	11: 109,517,336	N105Y	probably damaging	Het
Blm	T	A	7: 80,481,475	Y872F	probably damaging	Het
Btaf1	A	T	19: 36,983,617	N797Y	probably benign	Het
Ccdc122	T	A	14: 77,042,069		probably null	Homo
Ccdc141	A	G	2: 77,170,401	V29A	probably damaging	Het
Cd244	T	A	1: 171,577,879	D277E	probably benign	Het
Cfap157	T	C	2: 32,780,678	Y186C	probably damaging	Het
Ciita	C	T	16: 10,511,910	A686V	probably damaging	Het
Clptm1l	T	C	13: 73,617,765		probably null	Het
Col16a1	C	T	4: 130,055,994	P50L	probably damaging	Het
Crisp3	A	T	17: 40,235,913	V38D	probably damaging	Het
Cyfip2	T	C	11: 46,221,346	E1010G	probably damaging	Het
Dvl3	G	A	16: 20,527,383	E488K	probably damaging	Het
Eed	C	A	7: 89,977,029	E45D	probably benign	Het
Eln	A	G	5: 134,725,774		probably benign	Het
Fah	T	A	7: 84,594,835	I239F	probably damaging	Het
Fbxw5	T	A	2: 25,502,436	Y77N	possibly damaging	Het
Garnl3	T	C	2: 33,006,821	E602G	possibly damaging	Het
Gkn3	A	T	6: 87,388,804	M11K	probably benign	Het
Glt1d1	A	G	5: 127,706,981	Y333C	probably damaging	Het
Gm10762	A	T	2: 128,967,170	Y86*	probably null	Het
Gm14496	A	G	2: 182,000,593	M686V	probably benign	Het
Gse1	T	A	8: 120,553,689		probably null	Het
Herc4	C	A	10: 63,317,418	T1035K	probably benign	Het
Hmcn2	T	A	2: 31,382,478	N1323K	probably damaging	Het
Hnrnpd	T	A	5: 99,966,166	E3D	probably damaging	Het
Htr7	T	A	19: 35,969,610	I335F	probably damaging	Het
Itgae	A	T	11: 73,145,592	I1119F	probably benign	Het
Lcn11	T	C	2: 25,779,091	F137S	probably benign	Het
Lrp3	T	G	7: 35,203,988	D311A	possibly damaging	Het
Lrrc1	G	T	9: 77,442,191	D364E	probably damaging	Het
Lrrc37a	T	A	11: 103,492,179	E2456V	unknown	Het
Lrriq1	T	C	10: 103,227,184	Y87C	probably damaging	Het
Mcc	A	T	18: 44,468,390	L449*	probably null	Het
Mcc	A	T	18: 44,468,391	L624M	probably damaging	Het
Mcm9	T	C	10: 53,612,839	T496A	probably damaging	Het
Myef2	T	A	2: 125,116,682	D109V	probably damaging	Het
Myom3	C	T	4: 135,762,513		probably benign	Het
Nanos1	G	T	19: 60,756,539	G92W	possibly damaging	Het
Ncor1	T	A	11: 62,381,414	K84*	probably null	Het
Neb	T	A	2: 52,291,082	D1171V	probably benign	Het
Notch3	A	G	17: 32,158,217	W267R	probably damaging	Het
Olfr1167	A	T	2: 88,150,016	M1K	probably null	Het
Olfr26	A	C	9: 38,855,637	T192P	probably damaging	Het
Per2	A	G	1: 91,427,763	S758P	probably benign	Het
Pi4k2a	A	G	19: 42,090,932	Q144R	probably benign	Het
Pirb	A	T	7: 3,717,393	V327E	probably benign	Het
Pla2g4a	C	T	1: 149,872,616	W272*	probably null	Het
Plekha4	T	A	7: 45,530,576	M1K	probably null	Het
Ppt2	A	G	17: 34,625,920	C117R	probably damaging	Het
Prph	A	T	15: 99,056,386	I222F	probably damaging	Het
Rbm43	T	C	2: 51,925,576	D211G	probably damaging	Het
Rims2	A	G	15: 39,534,855	D1072G	probably benign	Het
Rnf123	G	T	9: 108,068,332	Q380K	possibly damaging	Het
Rnf145	T	C	11: 44,525,105	F49S	probably damaging	Het
Sall4	A	G	2: 168,755,708	I404T	probably damaging	Het
Slc25a39	G	A	11: 102,404,460	P228L	probably damaging	Het
Tbc1d14	T	C	5: 36,520,481	T377A	possibly damaging	Het
Tbc1d17	A	G	7: 44,841,625	I555T	probably benign	Het
Tmem131l	A	T	3: 83,922,408	S980T	probably damaging	Het
Tmem14a	G	T	1: 21,229,438	L97F	possibly damaging	Het
Tmem98	T	C	11: 80,812,635	V26A	probably benign	Het
Tmppe	G	T	9: 114,405,652	G340W	probably damaging	Het
Tsc1	T	C	2: 28,665,601	S237P	probably damaging	Het
Ttc30b	T	A	2: 75,937,104	N435I	possibly damaging	Het
Ubr4	C	T	4: 139,444,671	R2992W	probably damaging	Het
Ugt2a2	A	G	5: 87,460,459	V673A	possibly damaging	Het
Vmn2r19	T	C	6: 123,316,108	Y370H	possibly damaging	Het
Vmn2r20	A	G	6: 123,396,383	F500S	possibly damaging	Het
Zc3h7b	A	G	15: 81,769,051	Y47C	probably benign	Het
Zdhhc13	A	G	7: 48,815,560	E406G	possibly damaging	Het
Zfp418	T	C	7: 7,182,600	S521P	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
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
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

Predicted Primers

PCR Primer
(F):5'- AATCTAAGAGGCCGGCTTGC -3'
(R):5'- ACATGGGAGAGCAGTAGCCTTC -3'

Sequencing Primer
(F):5'- CCGGCTTGCTCAGAGTG -3'
(R):5'- TTTGGTTGAGCAGTAGCC -3'

Posted On

2018-06-06