Mutagenetix > Incidental Mutation

Incidental Mutation 'R9379:Camsap1'

709841

Institutional Source

Beutler Lab

Gene Symbol

Camsap1

Ensembl Gene

ENSMUSG00000026933

Gene Name

calmodulin regulated spectrin-associated protein 1

Synonyms

9530003A05Rik, PRO2405

MMRRC Submission

Accession Numbers

Genbank: NM_001115076; MGI: 3036242

Essential gene?

Possibly non essential (E-score: 0.401) question?

Stock #

R9379 (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 25956306 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 132 (I132V)

Gene Model

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

AlphaFold

A2AHC3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091268
AA Change: I202V

PolyPhen 2 Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000088812
Gene: ENSMUSG00000026933
AA Change: I202V

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: I202V

PolyPhen 2 Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109804
Gene: ENSMUSG00000026933
AA Change: I202V

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: I132V

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: I202V

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117203
Gene: ENSMUSG00000026933
AA Change: I202V

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

SMART Domains

Protein: ENSMUSP00000123541
Gene: ENSMUSG00000026933
AA Change: I37V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000183461
AA Change: I202V

PolyPhen 2 Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139028
Gene: ENSMUSG00000026933
AA Change: I202V

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: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	T	4: 39,451,201	I136F	possibly damaging	Het
1700019D03Rik	T	A	1: 52,925,476	D31V	probably benign	Het
Abca14	G	T	7: 120,207,979	E83*	probably null	Het
Abcc5	T	C	16: 20,333,687	T1370A	probably damaging	Het
Ankhd1	T	C	18: 36,644,627	V1621A	probably benign	Het
Ano8	T	A	8: 71,483,534	Q206L	probably benign	Het
Aox3	A	T	1: 58,169,800	I831F	possibly damaging	Het
Armc4	T	C	18: 7,265,089	D426G	possibly damaging	Het
Atp2a2	T	C	5: 122,473,252	I168V	probably benign	Het
Atxn2	G	A	5: 121,747,446	V239I	probably damaging	Het
B230219D22Rik	C	A	13: 55,699,470	A132E	probably damaging	Het
Btbd17	C	A	11: 114,791,923	W321L	possibly damaging	Het
Cacna1i	T	A	15: 80,375,294	V1255E	probably damaging	Het
Ccdc114	A	G	7: 45,947,692	T456A	probably benign	Het
Chd7	A	G	4: 8,752,210	S236G	unknown	Het
Clasp1	CCTGCTGCTGCTGCTG	CCTGCTGCTGCTGCTGCTG	1: 118,581,427		probably benign	Het
Clasp1	TGC	TGCCGC	1: 118,581,438		probably benign	Het
Col4a1	T	A	8: 11,199,838	H1658L	unknown	Het
D430042O09Rik	T	C	7: 125,870,676	L1439P	probably damaging	Het
D630044L22Rik	A	G	17: 25,961,882	H102R	possibly damaging	Het
Dact3	G	A	7: 16,886,088	V503I	unknown	Het
Dcn	G	T	10: 97,507,781	R201L	probably damaging	Het
Dmxl1	T	C	18: 49,891,500	V1747A	possibly damaging	Het
Dnajc14	T	A	10: 128,816,874		probably null	Het
Dspp	A	T	5: 104,174,894		probably null	Het
Ep300	T	C	15: 81,648,559	V1666A	unknown	Het
Flvcr2	A	G	12: 85,803,226	I429V	probably benign	Het
Gpr158	A	G	2: 21,368,231		probably benign	Het
Grip1	G	T	10: 119,945,056	L203F	probably damaging	Het
Hoga1	T	C	19: 42,063,258	L250P	probably damaging	Het
Htr2b	A	G	1: 86,100,122	S221P	probably damaging	Het
Ighv1-24	T	C	12: 114,773,043	Y79C	possibly damaging	Het
Kcnq1	A	G	7: 143,191,432	T311A	probably damaging	Het
Kif21a	C	T	15: 90,969,827	R779Q	probably damaging	Het
Lilra6	T	C	7: 3,913,167	E231G	probably damaging	Het
Lrrc8c	T	A	5: 105,608,490	Y710*	probably null	Het
Mixl1	A	G	1: 180,694,693	S208P	probably benign	Het
Muc16	T	A	9: 18,646,171	Q2942L	unknown	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nlrp4e	C	G	7: 23,321,330	A414G	probably benign	Het
Nos1	G	C	5: 117,879,337	R255P	probably benign	Het
Nup85	T	C	11: 115,578,598	I322T	probably benign	Het
Olfr826	A	G	10: 130,180,736	M48T	possibly damaging	Het
Olfr860	T	A	9: 19,845,916	K234N	possibly damaging	Het
Olfr878	C	T	9: 37,919,151	L165F	probably damaging	Het
Olfr964-ps1	A	G	9: 39,686,818	L42P	probably damaging	Het
Osbpl9	A	T	4: 109,083,202	H178Q	probably damaging	Het
Parp14	A	G	16: 35,860,483	V260A	probably benign	Het
Plxna2	C	T	1: 194,810,166	T1777I	probably damaging	Het
Ppp3cb	T	C	14: 20,531,806	D47G	probably benign	Het
Pram1	T	C	17: 33,641,467	V336A	probably damaging	Het
Prl	T	A	13: 27,059,520	I58N	probably damaging	Het
Qrich2	T	C	11: 116,458,108	D630G	unknown	Het
Ralgapa1	G	C	12: 55,722,798	P803A	probably damaging	Het
Rtcb	A	T	10: 85,943,207		probably null	Het
Ryr2	C	T	13: 11,883,116	C131Y	probably damaging	Het
Spata7	A	G	12: 98,634,289	I54V	probably benign	Het
St6galnac3	A	G	3: 153,509,433	V28A	probably benign	Het
Stra6l	A	T	4: 45,849,093	T6S	probably benign	Het
Taf4b	C	T	18: 14,813,374	T418M	probably damaging	Het
Taf6	A	G	5: 138,183,690	I92T	possibly damaging	Het
Tcaf2	C	T	6: 42,642,583	S170N	probably benign	Het
Tfrc	A	G	16: 32,625,001	D541G	probably damaging	Het
Trav13n-3	T	G	14: 53,337,396	L32V	probably damaging	Het
Trpa1	T	C	1: 14,896,515	T542A	possibly damaging	Het
Ttc39b	A	T	4: 83,271,139	S53T	probably benign	Het
Ubap2	A	T	4: 41,216,630	S268T	possibly damaging	Het
Usp40	A	G	1: 87,954,167	V998A	probably benign	Het
Usp44	T	A	10: 93,852,773	I562K	possibly damaging	Het
Vmn2r106	T	C	17: 20,275,804	T553A	probably damaging	Het
Vmn2r65	A	G	7: 84,947,442	V135A	probably damaging	Het
Wbp2nl	T	A	15: 82,314,110	S283T	possibly damaging	Het
Wnk1	G	A	6: 119,951,717	T1092I	probably damaging	Het
Zcchc6	T	C	13: 59,788,474	Y1271C	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
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
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'- TGGTTGAGCAGTAGCCTT -3'

Posted On

2022-04-18