Mutagenetix > Incidental Mutation

Incidental Mutation 'R8134:Camsap3'

632171

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R8134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3587293-3609075 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3598075 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 128 (K128E)

Ref Sequence

ENSEMBL: ENSMUSP00000146896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057028] [ENSMUST00000171962] [ENSMUST00000207077] [ENSMUST00000207432] [ENSMUST00000207533] [ENSMUST00000207712] [ENSMUST00000207970] [ENSMUST00000208036] [ENSMUST00000208240]

AlphaFold

Q80VC9

Predicted Effect

probably benign
Transcript: ENSMUST00000057028
AA Change: K128E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000058958
Gene: ENSMUSG00000044433
AA Change: K128E

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: K128E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000125993
Gene: ENSMUSG00000044433
AA Change: K128E

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: K128E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207432
AA Change: K128E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

unknown
Transcript: ENSMUST00000207533
AA Change: K128E

Predicted Effect

unknown
Transcript: ENSMUST00000207712
AA Change: K128E

Predicted Effect

probably benign
Transcript: ENSMUST00000207970
AA Change: K128E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000208036

Predicted Effect

unknown
Transcript: ENSMUST00000208240
AA Change: K128E

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.5%

Validation Efficiency

99% (71/72)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	G	A	8: 79,699,353	P265L	probably benign	Het
Adam20	A	G	8: 40,796,064	T404A	probably benign	Het
Anp32a	G	T	9: 62,377,581	R237L	unknown	Het
Ascc3	A	G	10: 50,767,458	D1835G	probably benign	Het
Atg9b	A	G	5: 24,385,222		probably null	Het
Bard1	A	T	1: 71,067,138	N443K	probably damaging	Het
Btnl1	A	G	17: 34,385,673	D476G	possibly damaging	Het
C2cd3	A	T	7: 100,418,504	I487F		Het
Cadm4	A	G	7: 24,503,605	E384G	possibly damaging	Het
Casz1	C	T	4: 148,943,035	P1005S	probably damaging	Het
Cd38	C	A	5: 43,901,448	L135M	probably damaging	Het
Cdk20	A	G	13: 64,437,920	E244G	probably benign	Het
Cfap54	A	T	10: 92,878,516	V2667D	unknown	Het
Col11a1	A	G	3: 114,218,786	K1792E	unknown	Het
Cpne9	A	T	6: 113,295,042	D377V	probably benign	Het
Csmd1	A	T	8: 15,932,550	C2706S	probably damaging	Het
Ctnnbl1	T	C	2: 157,809,471	V222A	probably benign	Het
Frmpd2	T	C	14: 33,505,495	S277P	probably benign	Het
Gm15922	A	G	7: 3,735,839	S590P	probably damaging	Het
Herc2	C	T	7: 56,085,136	T158I	probably benign	Het
Hoxa4	G	T	6: 52,190,557	H215N	possibly damaging	Het
Hpd	G	T	5: 123,174,380	Q309K	probably benign	Het
Il20ra	A	G	10: 19,750,704	T159A	probably damaging	Het
Ints10	T	A	8: 68,802,986	Y209*	probably null	Het
Ints2	A	G	11: 86,212,660	I1190T	probably damaging	Het
Jhy	A	G	9: 40,960,892	V107A	probably null	Het
Kdm4d	C	T	9: 14,463,236	R442H	probably damaging	Het
Kif1bp	T	C	10: 62,577,977	Y134C	probably benign	Het
Klb	A	T	5: 65,383,615	H1017L	probably benign	Het
Kndc1	T	A	7: 139,901,369		probably null	Het
Krtap4-1	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	11: 99,627,834		probably benign	Het
Lrrn3	T	C	12: 41,453,048	I423M	probably damaging	Het
Magi2	T	G	5: 20,391,367	F274L	probably damaging	Het
Magi2	T	A	5: 20,391,394	D283E	probably benign	Het
Map3k19	A	C	1: 127,823,755	S620A	probably damaging	Het
Meis2	C	T	2: 115,866,888	M388I	probably benign	Het
Ms4a3	G	C	19: 11,638,249	H54Q	probably benign	Het
Nfe2l1	A	T	11: 96,819,759	M548K	possibly damaging	Het
Ninl	C	T	2: 150,950,314	C763Y	probably benign	Het
Numa1	T	C	7: 102,001,627	F1522L	probably benign	Het
Olfr1344	T	C	7: 6,438,923		probably benign	Het
Olfr539	T	A	7: 140,667,767	I153N	possibly damaging	Het
Pcdhgc3	G	A	18: 37,806,863	V106I	probably benign	Het
Phf3	A	G	1: 30,824,471	V152A	unknown	Het
Plcg2	A	T	8: 117,557,318	D118V	probably damaging	Het
Pnpla1	A	G	17: 28,878,469	D203G	probably damaging	Het
Ppip5k2	A	T	1: 97,745,163	M474K	probably benign	Het
Ppp1r12b	T	C	1: 134,886,542	E341G	possibly damaging	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rrs1	C	T	1: 9,545,420		probably benign	Het
Scaf11	T	C	15: 96,420,711	N324S	probably damaging	Het
Spaca1	T	A	4: 34,042,157		probably null	Het
Sun3	G	T	11: 9,029,346	D118E	probably benign	Het
Svop	C	T	5: 114,042,931	V215I	probably benign	Het
Tbc1d15	A	T	10: 115,209,569	C497S	probably damaging	Het
Tdrd6	A	T	17: 43,626,173	I1328N	probably damaging	Het
Tuba8	T	A	6: 121,221,422	D116E	probably benign	Het
Ube2z	A	G	11: 96,058,374	I213T	possibly damaging	Het
Ubqln4	G	A	3: 88,555,490		probably null	Het
Vps13a	A	G	19: 16,654,354	I2639T	possibly damaging	Het
Zfp217	G	A	2: 170,119,651	S252F	possibly damaging	Het
Zfp94	A	T	7: 24,303,741	V92E	probably benign	Het

Other mutations in Camsap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00546:Camsap3	APN	8	3602077	missense	probably damaging	1.00
IGL00797:Camsap3	APN	8	3602115	splice site	probably benign
IGL01457:Camsap3	APN	8	3604795	missense	probably damaging	0.98
IGL01833:Camsap3	APN	8	3608508	missense	probably damaging	1.00
IGL02095:Camsap3	APN	8	3603845	missense	probably damaging	1.00
IGL02880:Camsap3	APN	8	3603913	missense	probably damaging	1.00
R0005:Camsap3	UTSW	8	3604288	missense	probably damaging	1.00
R0049:Camsap3	UTSW	8	3598772	missense	probably benign	0.11
R0049:Camsap3	UTSW	8	3598772	missense	probably benign	0.11
R0347:Camsap3	UTSW	8	3602029	missense	probably damaging	1.00
R0926:Camsap3	UTSW	8	3587960	critical splice donor site	probably null
R0946:Camsap3	UTSW	8	3604442	missense	probably benign	0.00
R1169:Camsap3	UTSW	8	3603866	missense	probably damaging	1.00
R1206:Camsap3	UTSW	8	3604708	missense	probably damaging	1.00
R1207:Camsap3	UTSW	8	3604708	missense	probably damaging	1.00
R1207:Camsap3	UTSW	8	3604708	missense	probably damaging	1.00
R1454:Camsap3	UTSW	8	3603968	missense	possibly damaging	0.58
R1475:Camsap3	UTSW	8	3604708	missense	probably damaging	1.00
R1581:Camsap3	UTSW	8	3604708	missense	probably damaging	1.00
R1618:Camsap3	UTSW	8	3598740	missense	probably benign	0.25
R1820:Camsap3	UTSW	8	3603485	missense	probably damaging	1.00
R1899:Camsap3	UTSW	8	3603922	nonsense	probably null
R1914:Camsap3	UTSW	8	3604708	missense	probably damaging	1.00
R1952:Camsap3	UTSW	8	3604789	missense	probably damaging	0.99
R2338:Camsap3	UTSW	8	3606808	missense	probably damaging	1.00
R3725:Camsap3	UTSW	8	3603785	missense	probably damaging	1.00
R3726:Camsap3	UTSW	8	3603785	missense	probably damaging	1.00
R4528:Camsap3	UTSW	8	3606515	missense	possibly damaging	0.79
R4652:Camsap3	UTSW	8	3600689	missense	possibly damaging	0.87
R5025:Camsap3	UTSW	8	3604244	missense	probably damaging	1.00
R5120:Camsap3	UTSW	8	3600680	missense	probably damaging	0.97
R5381:Camsap3	UTSW	8	3603812	missense	probably damaging	1.00
R5388:Camsap3	UTSW	8	3604276	missense	probably damaging	1.00
R5829:Camsap3	UTSW	8	3597899	missense	probably damaging	1.00
R5846:Camsap3	UTSW	8	3603980	missense	probably damaging	1.00
R5935:Camsap3	UTSW	8	3601999	missense	probably damaging	1.00
R6363:Camsap3	UTSW	8	3601971	missense	probably damaging	1.00
R6469:Camsap3	UTSW	8	3603941	missense	possibly damaging	0.79
R6595:Camsap3	UTSW	8	3604186	missense	probably damaging	1.00
R6595:Camsap3	UTSW	8	3608742	missense	probably damaging	1.00
R7024:Camsap3	UTSW	8	3608242	missense	probably damaging	0.98
R7062:Camsap3	UTSW	8	3607834	unclassified	probably benign
R7109:Camsap3	UTSW	8	3598087	missense	possibly damaging	0.53
R7233:Camsap3	UTSW	8	3600371	missense	probably damaging	0.99
R7236:Camsap3	UTSW	8	3604116	missense	probably damaging	1.00
R7316:Camsap3	UTSW	8	3604648	missense	possibly damaging	0.51
R7340:Camsap3	UTSW	8	3587960	critical splice donor site	probably null
R7512:Camsap3	UTSW	8	3598740	missense	probably benign	0.25
R7779:Camsap3	UTSW	8	3597887	missense	probably damaging	1.00
R8356:Camsap3	UTSW	8	3600679	nonsense	probably null
R8456:Camsap3	UTSW	8	3600679	nonsense	probably null
R8696:Camsap3	UTSW	8	3603614	missense	probably damaging	1.00
R8804:Camsap3	UTSW	8	3602624	missense	probably benign	0.14
R9022:Camsap3	UTSW	8	3606575	missense	probably benign	0.08
R9380:Camsap3	UTSW	8	3603999	missense	probably benign	0.09
R9706:Camsap3	UTSW	8	3608689	missense	possibly damaging	0.92
Z1192:Camsap3	UTSW	8	3604124	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCAGTACGCACAGGAGCAC -3'
(R):5'- AGGAGCTACACCTAATGGGC -3'

Sequencing Primer
(F):5'- CACAGGAGCACGTGAAGCC -3'
(R):5'- CTACACCTAATGGGCTGAGCTTGAG -3'

Posted On

2020-06-30