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

Essential gene?

Possibly non essential (E-score: 0.272) question?

Stock #

R9379 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25816850-25873294 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25846318 bp (GRCm39)

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 (GRCm39)	I136F	possibly damaging	Het
1700019D03Rik	T	A	1: 52,964,635 (GRCm39)	D31V	probably benign	Het
Abca14	G	T	7: 119,807,202 (GRCm39)	E83*	probably null	Het
Abcc5	T	C	16: 20,152,437 (GRCm39)	T1370A	probably damaging	Het
Ankhd1	T	C	18: 36,777,680 (GRCm39)	V1621A	probably benign	Het
Ano8	T	A	8: 71,936,178 (GRCm39)	Q206L	probably benign	Het
Aox3	A	T	1: 58,208,959 (GRCm39)	I831F	possibly damaging	Het
Atp2a2	T	C	5: 122,611,315 (GRCm39)	I168V	probably benign	Het
Atxn2	G	A	5: 121,885,509 (GRCm39)	V239I	probably damaging	Het
B230219D22Rik	C	A	13: 55,847,283 (GRCm39)	A132E	probably damaging	Het
Btbd17	C	A	11: 114,682,749 (GRCm39)	W321L	possibly damaging	Het
Cacna1i	T	A	15: 80,259,495 (GRCm39)	V1255E	probably damaging	Het
Chd7	A	G	4: 8,752,210 (GRCm39)	S236G	unknown	Het
Clasp1	CCTGCTGCTGCTGCTG	CCTGCTGCTGCTGCTGCTG	1: 118,509,157 (GRCm39)		probably benign	Het
Clasp1	TGC	TGCCGC	1: 118,509,168 (GRCm39)		probably benign	Het
Col4a1	T	A	8: 11,249,838 (GRCm39)	H1658L	unknown	Het
D630044L22Rik	A	G	17: 26,180,856 (GRCm39)	H102R	possibly damaging	Het
Dact3	G	A	7: 16,620,013 (GRCm39)	V503I	unknown	Het
Dcn	G	T	10: 97,343,643 (GRCm39)	R201L	probably damaging	Het
Dmxl1	T	C	18: 50,024,567 (GRCm39)	V1747A	possibly damaging	Het
Dnajc14	T	A	10: 128,652,743 (GRCm39)		probably null	Het
Dspp	A	T	5: 104,322,760 (GRCm39)		probably null	Het
Ep300	T	C	15: 81,532,760 (GRCm39)	V1666A	unknown	Het
Flvcr2	A	G	12: 85,850,000 (GRCm39)	I429V	probably benign	Het
Gpr158	A	G	2: 21,373,042 (GRCm39)		probably benign	Het
Grip1	G	T	10: 119,780,961 (GRCm39)	L203F	probably damaging	Het
Hoga1	T	C	19: 42,051,697 (GRCm39)	L250P	probably damaging	Het
Htr2b	A	G	1: 86,027,844 (GRCm39)	S221P	probably damaging	Het
Ighv1-24	T	C	12: 114,736,663 (GRCm39)	Y79C	possibly damaging	Het
Katnip	T	C	7: 125,469,848 (GRCm39)	L1439P	probably damaging	Het
Kcnq1	A	G	7: 142,745,169 (GRCm39)	T311A	probably damaging	Het
Kif21a	C	T	15: 90,854,030 (GRCm39)	R779Q	probably damaging	Het
Lilra6	T	C	7: 3,916,166 (GRCm39)	E231G	probably damaging	Het
Lrrc8c	T	A	5: 105,756,356 (GRCm39)	Y710*	probably null	Het
Mixl1	A	G	1: 180,522,258 (GRCm39)	S208P	probably benign	Het
Muc16	T	A	9: 18,557,467 (GRCm39)	Q2942L	unknown	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nlrp4e	C	G	7: 23,020,755 (GRCm39)	A414G	probably benign	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup85	T	C	11: 115,469,424 (GRCm39)	I322T	probably benign	Het
Odad1	A	G	7: 45,597,116 (GRCm39)	T456A	probably benign	Het
Odad2	T	C	18: 7,265,089 (GRCm39)	D426G	possibly damaging	Het
Or10n7-ps1	A	G	9: 39,598,114 (GRCm39)	L42P	probably damaging	Het
Or7e169	T	A	9: 19,757,212 (GRCm39)	K234N	possibly damaging	Het
Or8b4	C	T	9: 37,830,447 (GRCm39)	L165F	probably damaging	Het
Or9k2b	A	G	10: 130,016,605 (GRCm39)	M48T	possibly damaging	Het
Osbpl9	A	T	4: 108,940,399 (GRCm39)	H178Q	probably damaging	Het
Parp14	A	G	16: 35,680,853 (GRCm39)	V260A	probably benign	Het
Plxna2	C	T	1: 194,492,474 (GRCm39)	T1777I	probably damaging	Het
Ppp3cb	T	C	14: 20,581,874 (GRCm39)	D47G	probably benign	Het
Pram1	T	C	17: 33,860,441 (GRCm39)	V336A	probably damaging	Het
Prl	T	A	13: 27,243,503 (GRCm39)	I58N	probably damaging	Het
Qrich2	T	C	11: 116,348,934 (GRCm39)	D630G	unknown	Het
Ralgapa1	G	C	12: 55,769,583 (GRCm39)	P803A	probably damaging	Het
Rtcb	A	T	10: 85,779,071 (GRCm39)		probably null	Het
Ryr2	C	T	13: 11,898,002 (GRCm39)	C131Y	probably damaging	Het
Spata7	A	G	12: 98,600,548 (GRCm39)	I54V	probably benign	Het
St6galnac3	A	G	3: 153,215,070 (GRCm39)	V28A	probably benign	Het
Stra6l	A	T	4: 45,849,093 (GRCm39)	T6S	probably benign	Het
Taf4b	C	T	18: 14,946,431 (GRCm39)	T418M	probably damaging	Het
Taf6	A	G	5: 138,181,952 (GRCm39)	I92T	possibly damaging	Het
Tcaf2	C	T	6: 42,619,517 (GRCm39)	S170N	probably benign	Het
Tfrc	A	G	16: 32,443,819 (GRCm39)	D541G	probably damaging	Het
Trav13n-3	T	G	14: 53,574,853 (GRCm39)	L32V	probably damaging	Het
Trpa1	T	C	1: 14,966,739 (GRCm39)	T542A	possibly damaging	Het
Ttc39b	A	T	4: 83,189,376 (GRCm39)	S53T	probably benign	Het
Tut7	T	C	13: 59,936,288 (GRCm39)	Y1271C	possibly damaging	Het
Ubap2	A	T	4: 41,216,630 (GRCm39)	S268T	possibly damaging	Het
Usp40	A	G	1: 87,881,889 (GRCm39)	V998A	probably benign	Het
Usp44	T	A	10: 93,688,635 (GRCm39)	I562K	possibly damaging	Het
Vmn2r106	T	C	17: 20,496,066 (GRCm39)	T553A	probably damaging	Het
Vmn2r65	A	G	7: 84,596,650 (GRCm39)	V135A	probably damaging	Het
Wbp2nl	T	A	15: 82,198,311 (GRCm39)	S283T	possibly damaging	Het
Wnk1	G	A	6: 119,928,678 (GRCm39)	T1092I	probably damaging	Het

Other mutations in Camsap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Camsap1	APN	2	25,823,635 (GRCm39)	missense	possibly damaging	0.95
IGL01555:Camsap1	APN	2	25,829,405 (GRCm39)	missense	possibly damaging	0.81
IGL01667:Camsap1	APN	2	25,835,293 (GRCm39)	splice site	probably benign
IGL02167:Camsap1	APN	2	25,824,312 (GRCm39)	missense	probably damaging	1.00
IGL02191:Camsap1	APN	2	25,819,892 (GRCm39)	missense	probably damaging	0.97
IGL02285:Camsap1	APN	2	25,819,814 (GRCm39)	missense	probably damaging	1.00
IGL02393:Camsap1	APN	2	25,828,334 (GRCm39)	missense	probably benign	0.10
3-1:Camsap1	UTSW	2	25,835,190 (GRCm39)	missense	probably damaging	1.00
R0631:Camsap1	UTSW	2	25,823,659 (GRCm39)	missense	probably damaging	0.98
R0828:Camsap1	UTSW	2	25,829,097 (GRCm39)	missense	probably damaging	1.00
R1434:Camsap1	UTSW	2	25,835,190 (GRCm39)	missense	probably damaging	1.00
R1687:Camsap1	UTSW	2	25,829,627 (GRCm39)	missense	probably damaging	1.00
R2027:Camsap1	UTSW	2	25,828,538 (GRCm39)	missense	possibly damaging	0.51
R2048:Camsap1	UTSW	2	25,819,755 (GRCm39)	missense	probably benign	0.00
R3732:Camsap1	UTSW	2	25,828,356 (GRCm39)	missense	probably damaging	1.00
R4437:Camsap1	UTSW	2	25,828,658 (GRCm39)	missense	possibly damaging	0.89
R4494:Camsap1	UTSW	2	25,842,770 (GRCm39)	missense	probably damaging	1.00
R4888:Camsap1	UTSW	2	25,825,562 (GRCm39)	missense	probably benign	0.03
R5028:Camsap1	UTSW	2	25,834,568 (GRCm39)	missense	probably damaging	1.00
R5058:Camsap1	UTSW	2	25,829,375 (GRCm39)	missense	probably benign	0.01
R5105:Camsap1	UTSW	2	25,830,941 (GRCm39)	missense	probably damaging	1.00
R5121:Camsap1	UTSW	2	25,825,562 (GRCm39)	missense	probably benign	0.03
R5153:Camsap1	UTSW	2	25,823,630 (GRCm39)	missense	probably damaging	1.00
R5323:Camsap1	UTSW	2	25,855,823 (GRCm39)	missense	probably damaging	0.98
R6043:Camsap1	UTSW	2	25,819,937 (GRCm39)	missense	probably benign	0.00
R6479:Camsap1	UTSW	2	25,825,874 (GRCm39)	missense	possibly damaging	0.88
R6502:Camsap1	UTSW	2	25,846,320 (GRCm39)	missense	probably damaging	1.00
R6571:Camsap1	UTSW	2	25,829,512 (GRCm39)	missense	possibly damaging	0.89
R7046:Camsap1	UTSW	2	25,835,201 (GRCm39)	missense	probably damaging	0.99
R7251:Camsap1	UTSW	2	25,828,898 (GRCm39)	missense	probably damaging	0.99
R8026:Camsap1	UTSW	2	25,828,214 (GRCm39)	missense	probably benign	0.17
R8133:Camsap1	UTSW	2	25,824,309 (GRCm39)	missense	probably damaging	0.99
R8152:Camsap1	UTSW	2	25,830,253 (GRCm39)	missense	probably damaging	1.00
R8158:Camsap1	UTSW	2	25,834,440 (GRCm39)	nonsense	probably null
R8325:Camsap1	UTSW	2	25,829,375 (GRCm39)	missense	probably benign	0.01
R8339:Camsap1	UTSW	2	25,872,817 (GRCm39)	missense	possibly damaging	0.74
R9187:Camsap1	UTSW	2	25,820,028 (GRCm39)	missense	probably damaging	1.00
R9419:Camsap1	UTSW	2	25,845,304 (GRCm39)	missense
R9525:Camsap1	UTSW	2	25,843,962 (GRCm39)	missense	probably benign
R9526:Camsap1	UTSW	2	25,843,962 (GRCm39)	missense	probably benign
R9776:Camsap1	UTSW	2	25,828,166 (GRCm39)	missense	probably benign	0.00
Z1176:Camsap1	UTSW	2	25,830,893 (GRCm39)	missense	probably benign	0.01
Z1176:Camsap1	UTSW	2	25,826,651 (GRCm39)	missense	probably damaging	1.00

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