Mutagenetix > Incidental Mutation

Incidental Mutation 'R9419:Camsap1'

712205

Institutional Source

Beutler Lab

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: 0.270) question?

Stock #

R9419 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25926838-25983282 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25955292 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 152 (S152P)

Gene Model

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

AlphaFold

A2AHC3

Predicted Effect

probably benign
Transcript: ENSMUST00000091268

SMART Domains

Protein: ENSMUSP00000088812
Gene: ENSMUSG00000026933

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

SMART Domains

Protein: ENSMUSP00000109804
Gene: ENSMUSG00000026933

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

SMART Domains

Protein: ENSMUSP00000121689
Gene: ENSMUSG00000026933
AA Change: S152P

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

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

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

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 benign
Transcript: ENSMUST00000183461

SMART Domains

Protein: ENSMUSP00000139028
Gene: ENSMUSG00000026933

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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
1700064H15Rik	T	C	3: 19,628,521	T30A	unknown	Het
A430089I19Rik	G	T	5: 94,303,142	P375H	probably damaging	Het
Abca12	A	G	1: 71,303,490	Y944H	possibly damaging	Het
Adgrv1	T	C	13: 81,508,768	N2869S	probably benign	Het
Ank1	C	A	8: 23,084,809	Q140K	probably damaging	Het
Aspm	T	A	1: 139,457,185	M189K	probably benign	Het
Atp2b1	G	T	10: 99,001,316	R539L	possibly damaging	Het
Catsperd	A	T	17: 56,651,821	I276L	probably benign	Het
Cbarp	A	G	10: 80,132,027	V460A	probably damaging	Het
Cdk11b	A	T	4: 155,639,845	T307S	unknown	Het
Chfr	C	T	5: 110,169,190	T643I	probably damaging	Het
Cnbd1	T	C	4: 19,098,156	Q88R	probably benign	Het
Col15a1	G	C	4: 47,288,200		probably benign	Het
Dusp27	T	C	1: 166,100,186	Q619R	probably damaging	Het
Ghdc	G	T	11: 100,770,255	A28D	probably damaging	Het
Gm5114	T	C	7: 39,408,116	H693R	possibly damaging	Het
Gm8251	T	C	1: 44,057,775	I1388V	probably benign	Het
H2-M1	G	T	17: 36,670,339	A268E	probably damaging	Het
Hsf5	A	G	11: 87,638,109	N557D	probably benign	Het
Ighg2c	A	G	12: 113,287,395		probably benign	Het
Il17ra	C	A	6: 120,481,294	Q469K	possibly damaging	Het
Ipo8	T	A	6: 148,784,566	N809Y	probably benign	Het
Klra10	T	A	6: 130,279,472	Q73L	probably damaging	Het
Lamb2	T	C	9: 108,479,760	V3A	unknown	Het
Map3k9	T	C	12: 81,780,567	Y103C	probably damaging	Het
Map4	T	C	9: 110,052,961	S298P	possibly damaging	Het
Mtus2	T	A	5: 148,306,641	N1254K	probably damaging	Het
Nap1l5	T	A	6: 58,906,967	M1L	probably benign	Het
Nfxl1	G	A	5: 72,559,298		probably benign	Het
Nmd3	T	C	3: 69,736,016	I227T	probably benign	Het
Olfr250	T	G	9: 38,367,866	C97G	probably damaging	Het
Ptchd3	G	A	11: 121,841,530	M415I	possibly damaging	Het
Rab28	A	T	5: 41,635,839	S154R	possibly damaging	Het
Rin1	A	G	19: 5,053,707	E567G	probably damaging	Het
Rrbp1	A	C	2: 143,969,516	V806G	probably benign	Het
Sec63	T	A	10: 42,803,905	L326Q	probably damaging	Het
Serinc2	T	C	4: 130,255,522	T296A	probably damaging	Het
Skint10	G	A	4: 112,715,784	L272F	probably damaging	Het
Slc4a11	C	T	2: 130,691,744	A100T	probably damaging	Het
Stag1	A	G	9: 100,929,914	Q815R	probably benign	Het
Stat3	A	G	11: 100,889,531	M735T	possibly damaging	Het
Stat3	A	G	11: 100,893,912	I576T	probably benign	Het
Syne1	T	C	10: 5,205,071	K5623E	probably benign	Het
Tas1r2	T	C	4: 139,659,725	V165A	possibly damaging	Het
Tcaf3	A	T	6: 42,596,782	D165E	probably benign	Het
Tex2	G	A	11: 106,567,009	Q532*	probably null	Het
Utrn	T	C	10: 12,688,381	E1245G	probably 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
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
R9525:Camsap1	UTSW	2	25953950	missense	probably benign
R9526:Camsap1	UTSW	2	25953950	missense	probably benign
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'- ACATGGCATCCCAATGTGC -3'
(R):5'- CCTTCCAGTTAAATTGCCTGG -3'

Sequencing Primer
(F):5'- AGCAGGGCTCATGCTAGAC -3'
(R):5'- CCTTCCAGTTAAATTGCCTGGTGTTG -3'

Posted On

2022-05-16