Mutagenetix > Incidental Mutation

Incidental Mutation 'R6479:Camsap1'

516956

Institutional Source

Beutler Lab

Gene Symbol

Camsap1

Ensembl Gene

ENSMUSG00000026933

Gene Name

calmodulin regulated spectrin-associated protein 1

Synonyms

9530003A05Rik, PRO2405

MMRRC Submission

044611-MU

Accession Numbers

Genbank: NM_001115076; MGI: 3036242

Essential gene?

Possibly non essential (E-score: 0.326) question?

Stock #

R6479 (G1)

Quality Score

168.009

Status

Validated

Chromosome

Chromosomal Location

25926838-25983282 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25935862 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 1367 (C1367R)

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: C1367R

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000088812
Gene: ENSMUSG00000026933
AA Change: C1367R

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: C1367R

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109804
Gene: ENSMUSG00000026933
AA Change: C1367R

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: C1367R

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000139028
Gene: ENSMUSG00000026933
AA Change: C1367R

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

0.0838

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.7%
20x: 92.0%

Validation Efficiency

95% (55/58)

Allele List at MGI

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

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	A	C	8: 24,629,665	S533A	probably benign	Het
Akap6	T	G	12: 53,141,169	S1789A	probably damaging	Het
Alox15	A	G	11: 70,345,185	S519P	probably damaging	Het
Anapc2	A	G	2: 25,285,395	K816E	probably benign	Het
Atp6v1a	T	C	16: 44,098,758	D488G	probably benign	Het
Banp	A	G	8: 121,991,437		probably null	Het
Casz1	C	A	4: 148,937,078	H539Q	probably damaging	Het
Ccl5	A	G	11: 83,530,386	Y26H	probably benign	Het
Cops3	A	T	11: 59,833,072	S86R	probably benign	Het
Cts7	A	G	13: 61,355,641	S170P	probably benign	Het
Cxcl15	A	T	5: 90,795,245	E35D	possibly damaging	Het
Dennd1b	C	T	1: 139,041,960		probably benign	Het
Dicer1	T	C	12: 104,696,723	D1533G	probably damaging	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Dock4	A	G	12: 40,828,955	E1531G	probably damaging	Het
Erap1	A	G	13: 74,663,493		probably null	Het
Fsip2	A	G	2: 82,990,086	T5388A	possibly damaging	Het
Gab1	C	A	8: 80,788,597	R364L	possibly damaging	Het
Gm10309	A	T	17: 86,504,579	M1K	probably null	Het
Gm21994	C	T	2: 150,254,591	G306D	probably damaging	Het
Gm4450	T	A	3: 98,446,841	E114V	possibly damaging	Het
Gm4884	A	T	7: 41,040,787	N36Y	probably damaging	Het
Hmcn1	G	A	1: 150,677,302	R2546*	probably null	Het
Hmcn2	A	G	2: 31,425,468	D3743G	probably damaging	Het
Irak2	A	T	6: 113,686,941	N423Y	probably damaging	Het
Jarid2	G	A	13: 44,848,289	G26D	probably benign	Het
Kif13b	A	G	14: 64,751,525	K785R	probably benign	Het
Lamc3	A	T	2: 31,887,401	I20F	probably benign	Het
Limk1	G	A	5: 134,661,519		probably benign	Het
Lrp4	C	T	2: 91,487,084	T851I	probably damaging	Het
Med13	G	A	11: 86,357,527		probably benign	Het
Megf10	T	C	18: 57,246,570	F273L	possibly damaging	Het
Meltf	T	A	16: 31,881,882	D73E	probably damaging	Het
Mroh7	A	G	4: 106,703,188	F640L	possibly damaging	Het
Mtor	T	C	4: 148,551,000	S2448P	probably benign	Het
Myo3a	T	C	2: 22,577,865	V377A	probably benign	Het
Myo5b	T	C	18: 74,617,015	V183A	probably damaging	Het
Nedd4l	G	A	18: 65,209,681	R755H	probably damaging	Het
Nrde2	T	C	12: 100,143,948	T275A	probably benign	Het
Olfr658	A	G	7: 104,645,126	I80T	probably benign	Het
Osgepl1	T	C	1: 53,321,543	V381A	probably benign	Het
Pcdha1	C	T	18: 36,931,456	T391I	probably benign	Het
Pdp1	T	C	4: 11,961,327	N328S	probably damaging	Het
Pepd	A	G	7: 35,040,722	E340G	probably benign	Het
Plch1	T	C	3: 63,744,510	T387A	probably benign	Het
Plxnb1	C	A	9: 109,111,665	T1536K	possibly damaging	Het
Rbp7	T	C	4: 149,449,890	T130A	probably benign	Het
Rhot2	A	T	17: 25,841,080	V309E	probably benign	Het
Slc37a1	A	G	17: 31,338,990	I421M	possibly damaging	Het
Slit2	T	A	5: 48,231,989	L585H	probably damaging	Het
Spint4	C	A	2: 164,700,844	A119D	probably benign	Het
Strip2	G	T	6: 29,944,497		probably null	Het
Stxbp4	T	C	11: 90,619,187	Y59C	probably damaging	Het
Syne1	G	A	10: 5,231,679	Q4219*	probably null	Het
Syne1	A	T	10: 5,456,826	I37N	probably damaging	Het
Syne4	G	T	7: 30,316,915	G179*	probably null	Het
Tead1	T	C	7: 112,861,465	V192A	probably benign	Het
Trim37	G	T	11: 87,216,487	E317*	probably null	Het
Wdfy3	A	C	5: 101,913,179	Y1390D	probably damaging	Het
Wdr81	A	G	11: 75,452,105	F779L	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
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

Predicted Primers

PCR Primer
(F):5'- CCTTGCCATCTTGGAACATCAC -3'
(R):5'- ACCTCTGACCCAGTCTCATG -3'

Sequencing Primer
(F):5'- GGAACATCACATTTGGTCTCAGC -3'
(R):5'- GACCCAGTCTCATGAATCCATTTTG -3'

Posted On

2018-05-21