Mutagenetix > Incidental Mutations

Incidental Mutation 'R5105:Camsap1'

401965

Institutional Source

Beutler Lab

Gene Symbol

Camsap1

Ensembl Gene

ENSMUSG00000026933

Gene Name

calmodulin regulated spectrin-associated protein 1

Synonyms

9530003A05Rik, PRO2405

MMRRC Submission

042693-MU

Accession Numbers

Genbank: NM_001115076; MGI: 3036242

Is this an essential gene?

Possibly non essential (E-score: 0.299) question?

Stock #

R5105 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25926838-25983282 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25940929 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 445 (S445P)

Ref Sequence

ENSEMBL: ENSMUSP00000139028 (fasta)

Gene Model

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

AlphaFold

A2AHC3

Predicted Effect

probably damaging
Transcript: ENSMUST00000091268
AA Change: S445P

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

SMART Domains

Protein: ENSMUSP00000088812
Gene: ENSMUSG00000026933
AA Change: S445P

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: S445P

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

SMART Domains

Protein: ENSMUSP00000109804
Gene: ENSMUSG00000026933
AA Change: S445P

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: ENSMUST00000134054

SMART Domains

Protein: ENSMUSP00000121689
Gene: ENSMUSG00000026933

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: S465P

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117203
Gene: ENSMUSG00000026933
AA Change: S465P

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: ENSMUST00000142028

SMART Domains

Protein: ENSMUSP00000119296
Gene: ENSMUSG00000026933

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

Predicted Effect

probably benign
Transcript: ENSMUST00000143977

Predicted Effect

probably benign
Transcript: ENSMUST00000151593

SMART Domains

Protein: ENSMUSP00000123541
Gene: ENSMUSG00000026933

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000183461
AA Change: S445P

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

SMART Domains

Protein: ENSMUSP00000139028
Gene: ENSMUSG00000026933
AA Change: S445P

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

0.1446

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

96% (52/54)

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
A830010M20Rik	T	G	5: 107,510,471	S1124A	possibly damaging	Het
Ccdc92	G	A	5: 124,835,794	P224S	probably damaging	Het
Cep135	T	C	5: 76,594,092	V125A	probably benign	Het
Cep192	T	A	18: 67,866,541	C2159S	probably benign	Het
Col1a1	G	T	11: 94,942,385	R404L	unknown	Het
Col6a3	A	T	1: 90,798,140	M1382K	possibly damaging	Het
Cyp4a12b	T	C	4: 115,433,761	S329P	probably damaging	Het
Dclk1	T	G	3: 55,255,939	S151A	probably benign	Het
Ddhd1	A	T	14: 45,657,407	V202E	probably benign	Het
Dlx6	AGG	AG	6: 6,865,180		probably null	Het
Dnah10	A	G	5: 124,811,482	E3050G	probably benign	Het
Dync1h1	T	A	12: 110,617,932	F590I	probably damaging	Het
Eif4b	T	C	15: 102,084,196	Y63H	probably benign	Het
Fscb	T	C	12: 64,473,336	E452G	possibly damaging	Het
Gpx3	A	T	11: 54,907,154	T39S	possibly damaging	Het
Grin2b	T	A	6: 135,732,441	Y1369F	probably benign	Het
Kank4	A	T	4: 98,779,159	N350K	probably benign	Het
Kdm5d	A	G	Y: 941,752	K1318E	probably benign	Het
Large1	A	T	8: 72,852,244	Y444*	probably null	Het
Lhx3	TCCTACGGGCCGGCCC	TCC	2: 26,201,423		probably null	Het
Lrrc47	A	G	4: 154,012,216	Q156R	probably damaging	Het
Lrriq4	T	C	3: 30,650,483	L220P	probably damaging	Het
Matn2	A	G	15: 34,355,668	D273G	possibly damaging	Het
Myo18b	T	A	5: 112,840,778	I981F	probably damaging	Het
Olfr1110	A	G	2: 87,136,210	I37T	probably benign	Het
Olfr135	A	C	17: 38,208,317	E24A	possibly damaging	Het
Olfr357	G	A	2: 36,997,457		probably null	Het
Olfr524	A	G	7: 140,202,549	Y74H	probably damaging	Het
Olfr974	T	C	9: 39,942,398	V46A	probably benign	Het
Pkdrej	T	C	15: 85,816,384	T1784A	probably damaging	Het
Ppp3cb	A	G	14: 20,509,422	V422A	possibly damaging	Het
Rlf	G	A	4: 121,150,367	T472I	probably damaging	Het
Scaf11	T	C	15: 96,420,432	E417G	probably damaging	Het
Shisa2	A	T	14: 59,629,814	T172S	possibly damaging	Het
Siglec1	T	A	2: 131,080,400	Q585L	possibly damaging	Het
Sorcs1	A	T	19: 50,225,141	M716K	possibly damaging	Het
Sparcl1	C	T	5: 104,085,763	M573I	probably damaging	Het
Stxbp5l	C	A	16: 37,142,372	V774F	probably benign	Het
Tcaf3	A	G	6: 42,591,325	F699S	probably damaging	Het
Tmem87b	T	C	2: 128,831,589	V251A	probably damaging	Het
Trpc6	T	A	9: 8,649,470	N560K	probably benign	Het
Trpv4	T	A	5: 114,626,920	I678F	probably damaging	Het
Ttc3	A	T	16: 94,466,934	H1935L	possibly damaging	Het
Vmn2r59	T	A	7: 42,047,105	Y71F	probably benign	Het
Wdfy3	A	G	5: 101,855,549	I2900T	probably damaging	Het
Zfp184	A	G	13: 21,959,629	T502A	possibly damaging	Het
Zmym6	A	G	4: 127,123,758	I1019V	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACATCATACAGTCGCTGTGCC -3'
(R):5'- ACGTATTGCAGCTACTGGAAG -3'

Sequencing Primer
(F):5'- CTGTGGTATCACTAGCTGCCAG -3'
(R):5'- CGTATTGCAGCTACTGGAAGTTACAG -3'

Posted On

2016-07-22