Mutagenetix > Incidental Mutation

Incidental Mutation 'R1899:Camsap3'

214093

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

039919-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R1899 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3587293-3609075 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 3603922 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 515 (E515*)

Ref Sequence

ENSEMBL: ENSMUSP00000146772 (fasta)

Gene Model

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

AlphaFold

Q80VC9

Predicted Effect

probably null
Transcript: ENSMUST00000057028
AA Change: E504*

SMART Domains

Protein: ENSMUSP00000058958
Gene: ENSMUSG00000044433
AA Change: E504*

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

noncoding transcript
Transcript: ENSMUST00000163038

Predicted Effect

probably null
Transcript: ENSMUST00000171962
AA Change: E505*

SMART Domains

Protein: ENSMUSP00000125993
Gene: ENSMUSG00000044433
AA Change: E505*

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 null
Transcript: ENSMUST00000207077
AA Change: E520*

Predicted Effect

probably benign
Transcript: ENSMUST00000207152

Predicted Effect

probably null
Transcript: ENSMUST00000207432
AA Change: E531*

Predicted Effect

probably benign
Transcript: ENSMUST00000207533

Predicted Effect

probably benign
Transcript: ENSMUST00000207712

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207930

Predicted Effect

probably null
Transcript: ENSMUST00000207970
AA Change: E515*

Predicted Effect

probably benign
Transcript: ENSMUST00000208036

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208064

Predicted Effect

probably benign
Transcript: ENSMUST00000208240

Meta Mutation Damage Score

0.9712

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

Validation Efficiency

94% (94/100)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	C	18: 38,258,342	W378R	probably benign	Het
4930522L14Rik	T	A	5: 109,736,798	Q398L	probably benign	Het
4930596D02Rik	T	G	14: 35,810,132	K162T	probably damaging	Het
Abca8b	G	T	11: 109,937,918	T1353K	possibly damaging	Het
Abcg3	A	C	5: 104,938,199	C565G	probably damaging	Het
Actr3b	G	A	5: 25,829,538	V185I	possibly damaging	Het
Akap6	A	T	12: 53,141,852	E2016D	possibly damaging	Het
Aldh3b2	T	C	19: 3,978,662	V148A	possibly damaging	Het
Ankfy1	C	T	11: 72,754,407	Q771*	probably null	Het
Anks1b	A	G	10: 90,260,756	D425G	probably damaging	Het
Arrb1	T	C	7: 99,582,297		probably benign	Het
Atg2a	C	A	19: 6,245,067	T170N	probably damaging	Het
Atp8b5	C	T	4: 43,361,804	R617C	possibly damaging	Het
Bicra	T	C	7: 15,987,751	T614A	possibly damaging	Het
Cacna1i	A	G	15: 80,391,642	D167G	possibly damaging	Het
Calr4	T	G	4: 109,246,293		probably null	Het
Casp8ap2	T	C	4: 32,643,647	S907P	probably damaging	Het
Cdk19	T	A	10: 40,479,780		probably benign	Het
Chst14	A	G	2: 118,927,015	M122V	possibly damaging	Het
Cntn4	A	G	6: 106,675,813	M748V	probably benign	Het
Col7a1	A	G	9: 108,978,888	D2552G	unknown	Het
Cpeb2	C	A	5: 43,277,587	P600Q	probably damaging	Het
Cyp2a5	C	T	7: 26,839,033	R274*	probably null	Het
Dexi	A	G	16: 10,542,518	F58S	probably damaging	Het
Dlg5	C	A	14: 24,148,300	G1522W	probably damaging	Het
Dock2	T	C	11: 34,294,286	H1048R	probably benign	Het
Dpp4	T	C	2: 62,345,050		probably benign	Het
Dusp10	A	T	1: 184,069,180	K381N	possibly damaging	Het
Ercc4	A	G	16: 13,147,787	E761G	probably damaging	Het
Ern2	T	C	7: 122,183,842		probably benign	Het
Fam83f	A	T	15: 80,692,080	T311S	probably damaging	Het
Fat2	T	C	11: 55,262,178	D3736G	probably benign	Het
Fgf11	G	T	11: 69,801,453	T58K	probably benign	Het
Galntl5	C	G	5: 25,198,532	S167*	probably null	Het
Glg1	T	G	8: 111,165,674	E846D	probably benign	Het
Grm8	C	A	6: 28,125,895	E77D	probably damaging	Het
Hmcn1	A	T	1: 150,657,451	D3028E	probably damaging	Het
Htt	A	G	5: 34,907,085	I2943V	probably benign	Het
Ift80	T	C	3: 68,918,513	K498R	probably benign	Het
Ipo9	A	T	1: 135,400,146	M509K	probably damaging	Het
Kcnj3	T	C	2: 55,437,244	V15A	probably damaging	Het
Kcnn3	A	T	3: 89,520,455		probably benign	Het
Larp1b	T	A	3: 40,964,084	D53E	probably benign	Het
Ltf	T	C	9: 111,022,845	F117L	possibly damaging	Het
Maml1	A	G	11: 50,266,130	L406P	probably damaging	Het
Mnx1	G	A	5: 29,473,957	A376V	unknown	Het
Mroh2a	G	A	1: 88,235,376	R376H	probably benign	Het
Mrpl4	A	G	9: 21,006,831	Y111C	probably damaging	Het
Mto1	T	C	9: 78,461,517		probably benign	Het
Nalcn	A	T	14: 123,316,126	M972K	possibly damaging	Het
Nemf	T	C	12: 69,346,378	I225V	probably null	Het
Nipal4	T	G	11: 46,150,231	D379A	probably damaging	Het
Nktr	A	G	9: 121,748,866		probably benign	Het
Nlrp5	A	G	7: 23,404,797	T28A	probably benign	Het
Nxph1	T	A	6: 9,247,622	Y198N	probably damaging	Het
Olfr1037	A	T	2: 86,085,720	V19D	probably benign	Het
Olfr1230	T	C	2: 89,296,670	N200S	probably damaging	Het
Olfr1436	T	C	19: 12,298,343	Y263C	probably damaging	Het
P2rx7	A	G	5: 122,673,736	Y370C	probably benign	Het
Piezo1	T	C	8: 122,482,645		probably benign	Het
Piezo1	T	C	8: 122,489,566	D1401G	probably damaging	Het
Plxnd1	A	G	6: 115,969,363	L879P	probably benign	Het
Polr2a	A	T	11: 69,743,946	I636N	probably damaging	Het
Prex2	G	T	1: 11,162,366	E886*	probably null	Het
Proca1	A	T	11: 78,205,021	I73F	probably damaging	Het
Prss55	A	T	14: 64,079,390	V101E	probably benign	Het
Psg26	T	A	7: 18,478,425	H335L	probably benign	Het
Rai1	A	G	11: 60,185,920	E270G	probably benign	Het
Reep1	A	G	6: 71,780,797	N127D	probably benign	Het
Rims1	G	T	1: 22,428,474	P769Q	probably damaging	Het
Robo4	A	T	9: 37,404,070		probably benign	Het
Ryr2	A	T	13: 11,591,336	D888E	probably benign	Het
Scamp3	A	G	3: 89,180,260	N135D	probably damaging	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Sema4f	A	G	6: 82,918,029	M395T	probably benign	Het
Sgip1	T	C	4: 102,968,337		probably null	Het
Sik2	A	T	9: 50,995,674		probably benign	Het
Smtn	G	T	11: 3,531,326	A223D	possibly damaging	Het
Spen	T	C	4: 141,470,343	T3405A	probably benign	Het
Srebf1	A	G	11: 60,203,486	L601P	probably damaging	Het
Srsf11	A	T	3: 158,031,580		probably benign	Het
Tacc2	T	G	7: 130,624,202	S891R	possibly damaging	Het
Tbc1d17	T	A	7: 44,841,633		probably benign	Het
Tgfbr3l	C	A	8: 4,249,600	R128S	probably damaging	Het
Thsd1	G	A	8: 22,252,318		probably benign	Het
Tlx3	T	C	11: 33,203,072	S130G	probably benign	Het
Tmem25	A	T	9: 44,798,216		probably null	Het
Trak2	A	T	1: 58,946,336	M1K	probably null	Het
Trappc12	C	T	12: 28,746,985	E183K	probably damaging	Het
Ubl3	A	G	5: 148,509,280	V71A	possibly damaging	Het
Unc50	A	G	1: 37,438,799	Y254C	probably damaging	Het
Unkl	T	C	17: 25,229,460		probably null	Het
Uso1	T	A	5: 92,201,192	S819T	probably benign	Het
Yes1	A	T	5: 32,645,051	R103S	probably damaging	Het
Zfp131	A	G	13: 119,767,025	V396A	probably damaging	Het
Zfp553	T	C	7: 127,235,654	I127T	possibly damaging	Het
Zfp599	A	T	9: 22,251,549	N102K	probably benign	Het
Zmynd10	A	T	9: 107,550,037	Q288L	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
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
R8134:Camsap3	UTSW	8	3598075	missense	probably benign	0.00
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'- GTGTCAACATCATCCCGGAATTC -3'
(R):5'- CAGCTGTTTCTTGCGTTCAG -3'

Sequencing Primer
(F):5'- CGGAATTCTGCTCAGCCAG -3'
(R):5'- CAAAACTGGTCATCTTCACTTCGGAG -3'

Posted On

2014-07-14