Mutagenetix > Incidental Mutation

Incidental Mutation 'R9022:Camsap3'

686284

Institutional Source

Beutler Lab

Gene Symbol

Camsap3

Ensembl Gene

ENSMUSG00000044433

Gene Name

calmodulin regulated spectrin-associated protein family, member 3

Synonyms

Nezha, 2310057J16Rik

MMRRC Submission

068852-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R9022 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3637293-3659075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3656575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 986 (L986S)

Ref Sequence

ENSEMBL: ENSMUSP00000146896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019614] [ENSMUST00000057028] [ENSMUST00000171962] [ENSMUST00000207077] [ENSMUST00000207432] [ENSMUST00000207533] [ENSMUST00000207712] [ENSMUST00000207970] [ENSMUST00000208240]

AlphaFold

Q80VC9

Predicted Effect

probably benign
Transcript: ENSMUST00000019614

SMART Domains

Protein: ENSMUSP00000019614
Gene: ENSMUSG00000019470

Domain	Start	End	E-Value	Type
HAT	48	80	7.56e0	SMART
HAT	93	122	1.92e2	SMART
HAT	124	158	4.89e-2	SMART
HAT	270	305	3.82e-4	SMART
low complexity region	316	333	N/A	INTRINSIC
HAT	409	445	1.88e1	SMART
HAT	447	496	2.32e2	SMART
HAT	498	530	1.56e1	SMART
HAT	532	566	5.84e0	SMART
HAT	571	605	3.62e-5	SMART
Blast:HAT	607	641	3e-14	BLAST
Blast:HAT	643	677	2e-15	BLAST
HAT	679	713	2.77e-1	SMART
low complexity region	771	785	N/A	INTRINSIC
low complexity region	823	836	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000057028
AA Change: L959S

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000058958
Gene: ENSMUSG00000044433
AA Change: L959S

Domain	Start	End	E-Value	Type
low complexity region	30	45	N/A	INTRINSIC
low complexity region	90	109	N/A	INTRINSIC
Pfam:CH	166	315	5.5e-27	PFAM
Pfam:CAMSAP_CH	214	296	1.2e-29	PFAM
low complexity region	359	373	N/A	INTRINSIC
coiled coil region	595	633	N/A	INTRINSIC
low complexity region	645	655	N/A	INTRINSIC
coiled coil region	696	727	N/A	INTRINSIC
low complexity region	749	779	N/A	INTRINSIC
low complexity region	828	837	N/A	INTRINSIC
low complexity region	866	881	N/A	INTRINSIC
coiled coil region	900	943	N/A	INTRINSIC
low complexity region	944	965	N/A	INTRINSIC
low complexity region	1002	1024	N/A	INTRINSIC
CAMSAP_CKK	1111	1240	1.29e-86	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171962
AA Change: L960S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000125993
Gene: ENSMUSG00000044433
AA Change: L960S

Domain	Start	End	E-Value	Type
low complexity region	30	45	N/A	INTRINSIC
low complexity region	90	109	N/A	INTRINSIC
Pfam:CAMSAP_CH	214	296	6e-31	PFAM
low complexity region	360	374	N/A	INTRINSIC
Pfam:CAMSAP_CC1	587	645	1.1e-27	PFAM
low complexity region	646	656	N/A	INTRINSIC
coiled coil region	697	728	N/A	INTRINSIC
low complexity region	750	780	N/A	INTRINSIC
low complexity region	829	838	N/A	INTRINSIC
low complexity region	867	882	N/A	INTRINSIC
coiled coil region	901	944	N/A	INTRINSIC
low complexity region	945	966	N/A	INTRINSIC
low complexity region	1003	1025	N/A	INTRINSIC
CAMSAP_CKK	1112	1241	1.29e-86	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000207077
AA Change: L975S

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000207152

Predicted Effect

probably benign
Transcript: ENSMUST00000207432
AA Change: L986S

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207533
AA Change: L559S

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207712
AA Change: L544S

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000207970
AA Change: L970S

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208240
AA Change: L555S

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (84/84)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele display variable penetrance of vascular, liver, nervous system, rib and eye abnormalities. Mice homozygous for an allele with loss of microtubule binding show partial lethality, decreased body size and abnormal alignment of microtubles in polarized epithelial cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	G	T	3: 32,769,649 (GRCm39)	A155S	probably benign	Het
Adar	A	G	3: 89,643,045 (GRCm39)	T309A	probably benign	Het
Adgrv1	A	T	13: 81,303,312 (GRCm39)	W6125R	probably damaging	Het
Adprhl1	A	G	8: 13,274,352 (GRCm39)	L802P	probably benign	Het
Ahcy	A	G	2: 154,910,779 (GRCm39)	L63P	probably damaging	Het
Ang5	G	A	14: 44,200,352 (GRCm39)	D139N	probably damaging	Het
Ankrd31	A	G	13: 96,962,655 (GRCm39)	D482G	probably benign	Het
Arhgef7	A	G	8: 11,850,469 (GRCm39)	N257D	probably benign	Het
Art3	C	A	5: 92,540,393 (GRCm39)	S45R	probably benign	Het
Atxn1	T	C	13: 45,720,891 (GRCm39)	R335G	probably damaging	Het
Bag6	T	A	17: 35,363,641 (GRCm39)	L775H	probably damaging	Het
BC004004	T	G	17: 29,501,130 (GRCm39)	H26Q	possibly damaging	Het
Cbx5	T	C	15: 103,121,586 (GRCm39)	E17G	probably damaging	Het
Cc2d1b	T	C	4: 108,484,617 (GRCm39)		probably null	Het
Ccdc59	T	C	10: 105,683,007 (GRCm39)	Y231H	probably damaging	Het
Cemip2	T	C	19: 21,789,986 (GRCm39)		probably null	Het
Csnk1g1	T	C	9: 65,917,854 (GRCm39)		probably null	Het
Cybrd1	A	G	2: 70,967,904 (GRCm39)	I158M	possibly damaging	Het
Disp2	T	A	2: 118,621,179 (GRCm39)	I637N	probably benign	Het
Dll4	TC	T	2: 119,163,054 (GRCm39)		probably null	Het
Dnah7a	T	C	1: 53,512,116 (GRCm39)		probably null	Het
Duox2	C	A	2: 122,110,919 (GRCm39)	*1518L	probably null	Het
Dym	A	G	18: 75,258,507 (GRCm39)	I422V	probably benign	Het
Entpd8	A	C	2: 24,975,144 (GRCm39)	I492L	probably benign	Het
Fabp12	A	G	3: 10,317,333 (GRCm39)	S13P	probably damaging	Het
Fam124b	A	G	1: 80,190,705 (GRCm39)	I226T	probably damaging	Het
Fer1l6	T	C	15: 58,455,329 (GRCm39)	L763P	probably damaging	Het
Git2	A	G	5: 114,907,676 (GRCm39)		probably null	Het
Gltpd2	A	T	11: 70,410,153 (GRCm39)	Y37F	probably benign	Het
Gm44511	T	G	6: 128,797,271 (GRCm39)	Q72H	possibly damaging	Het
Grid2ip	A	T	5: 143,366,204 (GRCm39)	T565S	probably benign	Het
Grk6	T	C	13: 55,606,877 (GRCm39)	S532P	possibly damaging	Het
Haspin	A	T	11: 73,026,831 (GRCm39)	F753I	probably damaging	Het
Herpud1	T	A	8: 95,116,197 (GRCm39)	S92T	possibly damaging	Het
Heyl	C	T	4: 123,139,768 (GRCm39)	A109V	probably damaging	Het
Hivep3	T	C	4: 119,955,304 (GRCm39)	S1207P	probably benign	Het
Hk1	A	G	10: 62,105,768 (GRCm39)	S893P	probably damaging	Het
Itih1	C	A	14: 30,652,327 (GRCm39)	V789L	probably benign	Het
Kif12	T	C	4: 63,090,121 (GRCm39)	D10G	possibly damaging	Het
Kif16b	C	T	2: 142,554,537 (GRCm39)	E754K	possibly damaging	Het
Kif20a	A	G	18: 34,760,898 (GRCm39)	Q191R	probably benign	Het
Lap3	A	G	5: 45,652,548 (GRCm39)	D48G	probably benign	Het
Matn3	T	A	12: 9,002,355 (GRCm39)	V189E	probably damaging	Het
Mbp	G	A	18: 82,597,067 (GRCm39)	E143K	possibly damaging	Het
Mrgprd	A	G	7: 144,875,555 (GRCm39)	H142R	probably benign	Het
Nbea	A	T	3: 55,551,110 (GRCm39)	C2685S	possibly damaging	Het
Nhsl1	A	C	10: 18,403,409 (GRCm39)	I1381L	possibly damaging	Het
Npc1	A	G	18: 12,346,422 (GRCm39)	M258T	probably benign	Het
Or2w3	T	C	11: 58,556,550 (GRCm39)	L55P	probably damaging	Het
Or7e178	T	A	9: 20,225,268 (GRCm39)	N316I	probably damaging	Het
Osbpl10	C	T	9: 114,807,939 (GRCm39)	A65V	unknown	Het
Pdia4	C	G	6: 47,785,149 (GRCm39)	A73P	probably benign	Het
Plxnb2	T	C	15: 89,048,471 (GRCm39)	Y646C	possibly damaging	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Pold2	T	C	11: 5,824,121 (GRCm39)	D228G	probably benign	Het
Popdc2	T	G	16: 38,194,508 (GRCm39)	C310G	probably benign	Het
Prdm10	A	G	9: 31,268,424 (GRCm39)	Y791C	probably benign	Het
Psg19	C	T	7: 18,530,762 (GRCm39)	V131I	probably benign	Het
Psg19	T	A	7: 18,531,044 (GRCm39)	T37S	probably benign	Het
Psme1	A	G	14: 55,817,271 (GRCm39)	E39G	probably damaging	Het
Rabep2	A	G	7: 126,043,719 (GRCm39)	E472G	probably damaging	Het
Rap1gap	T	C	4: 137,445,309 (GRCm39)	F297S	probably damaging	Het
Reln	A	G	5: 22,181,613 (GRCm39)	S1757P	possibly damaging	Het
Rybp	G	T	6: 100,210,074 (GRCm39)	D95E	possibly damaging	Het
Slc12a8	T	A	16: 33,466,934 (GRCm39)	D480E	probably benign	Het
Slc25a1	A	G	16: 17,745,294 (GRCm39)	V80A	probably benign	Het
Slc25a24	A	T	3: 109,070,757 (GRCm39)	D372V	probably benign	Het
Slc49a4	T	C	16: 35,570,912 (GRCm39)	T131A	probably benign	Het
Stab1	T	C	14: 30,882,226 (GRCm39)	T490A	probably benign	Het
Stat5b	A	T	11: 100,681,634 (GRCm39)	I540N	probably benign	Het
Tasor2	A	G	13: 3,626,659 (GRCm39)	V1097A	probably benign	Het
Thy1	T	A	9: 43,957,947 (GRCm39)	L25Q	probably damaging	Het
Trim30a	A	G	7: 104,084,956 (GRCm39)	S85P	probably benign	Het
Use1	G	A	8: 71,819,942 (GRCm39)	V36I	probably benign	Het
Vmn1r228	T	A	17: 20,996,778 (GRCm39)	I247F	probably damaging	Het
Vmn2r13	T	A	5: 109,304,242 (GRCm39)	T730S	possibly damaging	Het
Vmn2r9	T	C	5: 108,992,923 (GRCm39)	D529G	possibly damaging	Het
Washc5	A	G	15: 59,217,233 (GRCm39)	I778T	possibly damaging	Het
Washc5	A	T	15: 59,233,069 (GRCm39)	M294K	probably damaging	Het
Wnt8a	A	T	18: 34,680,298 (GRCm39)	D221V	probably damaging	Het
Zfp616	A	G	11: 73,976,539 (GRCm39)	K936R	probably damaging	Het
Zfp618	G	A	4: 63,012,687 (GRCm39)	C133Y	probably damaging	Het
Zfp82	A	G	7: 29,761,714 (GRCm39)	S56P	probably damaging	Het
Zkscan16	T	A	4: 58,957,021 (GRCm39)	D434E	probably benign	Het

Other mutations in Camsap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00546:Camsap3	APN	8	3,652,077 (GRCm39)	missense	probably damaging	1.00
IGL00797:Camsap3	APN	8	3,652,115 (GRCm39)	splice site	probably benign
IGL01457:Camsap3	APN	8	3,654,795 (GRCm39)	missense	probably damaging	0.98
IGL01833:Camsap3	APN	8	3,658,508 (GRCm39)	missense	probably damaging	1.00
IGL02095:Camsap3	APN	8	3,653,845 (GRCm39)	missense	probably damaging	1.00
IGL02880:Camsap3	APN	8	3,653,913 (GRCm39)	missense	probably damaging	1.00
R0005:Camsap3	UTSW	8	3,654,288 (GRCm39)	missense	probably damaging	1.00
R0049:Camsap3	UTSW	8	3,648,772 (GRCm39)	missense	probably benign	0.11
R0049:Camsap3	UTSW	8	3,648,772 (GRCm39)	missense	probably benign	0.11
R0347:Camsap3	UTSW	8	3,652,029 (GRCm39)	missense	probably damaging	1.00
R0926:Camsap3	UTSW	8	3,637,960 (GRCm39)	critical splice donor site	probably null
R0946:Camsap3	UTSW	8	3,654,442 (GRCm39)	missense	probably benign	0.00
R1169:Camsap3	UTSW	8	3,653,866 (GRCm39)	missense	probably damaging	1.00
R1206:Camsap3	UTSW	8	3,654,708 (GRCm39)	missense	probably damaging	1.00
R1207:Camsap3	UTSW	8	3,654,708 (GRCm39)	missense	probably damaging	1.00
R1207:Camsap3	UTSW	8	3,654,708 (GRCm39)	missense	probably damaging	1.00
R1454:Camsap3	UTSW	8	3,653,968 (GRCm39)	missense	possibly damaging	0.58
R1475:Camsap3	UTSW	8	3,654,708 (GRCm39)	missense	probably damaging	1.00
R1581:Camsap3	UTSW	8	3,654,708 (GRCm39)	missense	probably damaging	1.00
R1618:Camsap3	UTSW	8	3,648,740 (GRCm39)	missense	probably benign	0.25
R1820:Camsap3	UTSW	8	3,653,485 (GRCm39)	missense	probably damaging	1.00
R1899:Camsap3	UTSW	8	3,653,922 (GRCm39)	nonsense	probably null
R1914:Camsap3	UTSW	8	3,654,708 (GRCm39)	missense	probably damaging	1.00
R1952:Camsap3	UTSW	8	3,654,789 (GRCm39)	missense	probably damaging	0.99
R2338:Camsap3	UTSW	8	3,656,808 (GRCm39)	missense	probably damaging	1.00
R3725:Camsap3	UTSW	8	3,653,785 (GRCm39)	missense	probably damaging	1.00
R3726:Camsap3	UTSW	8	3,653,785 (GRCm39)	missense	probably damaging	1.00
R4528:Camsap3	UTSW	8	3,656,515 (GRCm39)	missense	possibly damaging	0.79
R4652:Camsap3	UTSW	8	3,650,689 (GRCm39)	missense	possibly damaging	0.87
R5025:Camsap3	UTSW	8	3,654,244 (GRCm39)	missense	probably damaging	1.00
R5120:Camsap3	UTSW	8	3,650,680 (GRCm39)	missense	probably damaging	0.97
R5381:Camsap3	UTSW	8	3,653,812 (GRCm39)	missense	probably damaging	1.00
R5388:Camsap3	UTSW	8	3,654,276 (GRCm39)	missense	probably damaging	1.00
R5829:Camsap3	UTSW	8	3,647,899 (GRCm39)	missense	probably damaging	1.00
R5846:Camsap3	UTSW	8	3,653,980 (GRCm39)	missense	probably damaging	1.00
R5935:Camsap3	UTSW	8	3,651,999 (GRCm39)	missense	probably damaging	1.00
R6363:Camsap3	UTSW	8	3,651,971 (GRCm39)	missense	probably damaging	1.00
R6469:Camsap3	UTSW	8	3,653,941 (GRCm39)	missense	possibly damaging	0.79
R6595:Camsap3	UTSW	8	3,658,742 (GRCm39)	missense	probably damaging	1.00
R6595:Camsap3	UTSW	8	3,654,186 (GRCm39)	missense	probably damaging	1.00
R7024:Camsap3	UTSW	8	3,658,242 (GRCm39)	missense	probably damaging	0.98
R7062:Camsap3	UTSW	8	3,657,834 (GRCm39)	unclassified	probably benign
R7109:Camsap3	UTSW	8	3,648,087 (GRCm39)	missense	possibly damaging	0.53
R7233:Camsap3	UTSW	8	3,650,371 (GRCm39)	missense	probably damaging	0.99
R7236:Camsap3	UTSW	8	3,654,116 (GRCm39)	missense	probably damaging	1.00
R7316:Camsap3	UTSW	8	3,654,648 (GRCm39)	missense	possibly damaging	0.51
R7340:Camsap3	UTSW	8	3,637,960 (GRCm39)	critical splice donor site	probably null
R7512:Camsap3	UTSW	8	3,648,740 (GRCm39)	missense	probably benign	0.25
R7779:Camsap3	UTSW	8	3,647,887 (GRCm39)	missense	probably damaging	1.00
R8134:Camsap3	UTSW	8	3,648,075 (GRCm39)	missense	probably benign	0.00
R8356:Camsap3	UTSW	8	3,650,679 (GRCm39)	nonsense	probably null
R8456:Camsap3	UTSW	8	3,650,679 (GRCm39)	nonsense	probably null
R8696:Camsap3	UTSW	8	3,653,614 (GRCm39)	missense	probably damaging	1.00
R8804:Camsap3	UTSW	8	3,652,624 (GRCm39)	missense	probably benign	0.14
R9380:Camsap3	UTSW	8	3,653,999 (GRCm39)	missense	probably benign	0.09
R9706:Camsap3	UTSW	8	3,658,689 (GRCm39)	missense	possibly damaging	0.92
Z1192:Camsap3	UTSW	8	3,654,124 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTCCAGGACGAAGACAAG -3'
(R):5'- ATCACAGCAACCAGAGCGTG -3'

Sequencing Primer
(F):5'- TCAGAAGCGAGCTAGCCTG -3'
(R):5'- TCAGTTTCAGTTGTGCCC -3'

Posted On

2021-10-11