Mutagenetix > Incidental Mutation

Incidental Mutation 'BB004:Cstpp1'

642248

Institutional Source

Beutler Lab

Gene Symbol

Cstpp1

Ensembl Gene

ENSMUSG00000040591

Gene Name

centriolar satellite-associated tubulin polyglutamylase complex regulator 1

Synonyms

1110051M20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

BB004

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91105413-91275049 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91252250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 37 (D37V)

Ref Sequence

ENSEMBL: ENSMUSP00000099654 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064652] [ENSMUST00000094835] [ENSMUST00000102594]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000064652
AA Change: D37V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000094835

SMART Domains

Protein: ENSMUSP00000092431
Gene: ENSMUSG00000040591

Domain	Start	End	E-Value	Type
low complexity region	219	234	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000102594
AA Change: D37V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099654
Gene: ENSMUSG00000040591
AA Change: D37V

Domain	Start	End	E-Value	Type
low complexity region	316	331	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	A	G	4: 103,123,539 (GRCm39)	M111T	probably benign	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Agrn	C	T	4: 156,257,266 (GRCm39)	G1188D	probably damaging	Het
Amz2	A	G	11: 109,319,884 (GRCm39)	K90R	probably damaging	Het
Arhgef4	G	T	1: 34,846,334 (GRCm39)	Q227H	probably damaging	Het
B4galt3	T	A	1: 171,099,342 (GRCm39)	C10*	probably null	Het
Banf2	T	A	2: 143,915,718 (GRCm39)	M53K	probably benign	Het
BC034090	A	T	1: 155,117,371 (GRCm39)	L249*	probably null	Het
Cftr	A	G	6: 18,267,970 (GRCm39)	D673G	possibly damaging	Het
Cntnap2	G	T	6: 47,072,621 (GRCm39)	C1063F	possibly damaging	Het
Dnah3	A	G	7: 119,550,494 (GRCm39)	I296T	probably damaging	Het
Dpy19l2	A	G	9: 24,607,197 (GRCm39)	V88A	probably benign	Het
Fbln5	T	C	12: 101,784,647 (GRCm39)		probably benign	Het
Fbn1	T	C	2: 125,225,656 (GRCm39)	D532G	possibly damaging	Het
Fnta	G	A	8: 26,494,454 (GRCm39)	R258*	probably null	Het
Gch1	G	A	14: 47,393,380 (GRCm39)	H201Y	probably damaging	Het
Grik2	A	T	10: 49,116,890 (GRCm39)	S624T	probably damaging	Het
Grm5	T	A	7: 87,685,382 (GRCm39)	S500T	probably benign	Het
Hmcn1	T	A	1: 150,485,526 (GRCm39)	I4359F	probably damaging	Het
Hrc	T	A	7: 44,985,477 (GRCm39)	H209Q	possibly damaging	Het
Hsd17b14	T	C	7: 45,215,395 (GRCm39)	M164T	probably damaging	Het
Hydin	T	C	8: 111,307,476 (GRCm39)	F3952L	possibly damaging	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Lig4	A	T	8: 10,023,629 (GRCm39)	H50Q	possibly damaging	Het
Lrp6	G	T	6: 134,497,513 (GRCm39)	R165S	probably damaging	Het
Muc4	A	G	16: 32,592,011 (GRCm39)	T958A		Het
Myo19	A	G	11: 84,791,046 (GRCm39)	E419G	probably damaging	Het
Ndufa5	A	G	6: 24,527,291 (GRCm39)	V16A	possibly damaging	Het
Or10a2	T	C	7: 106,673,496 (GRCm39)	F154L	probably benign	Het
Phf24	A	C	4: 42,934,774 (GRCm39)	T137P	probably damaging	Het
Pkp4	A	T	2: 59,142,098 (GRCm39)	N467I	probably damaging	Het
Pramel25	T	A	4: 143,519,536 (GRCm39)	I99N	probably benign	Het
Rbm12b2	C	T	4: 12,095,417 (GRCm39)	R759C	possibly damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rnf34	T	A	5: 122,988,288 (GRCm39)		probably benign	Het
Scaf8	T	A	17: 3,209,495 (GRCm39)	S73T	unknown	Het
Scn4a	T	A	11: 106,233,209 (GRCm39)	E454D	probably damaging	Het
Serpina1e	A	G	12: 103,917,450 (GRCm39)	V73A	probably benign	Het
Sh3rf2	A	G	18: 42,244,487 (GRCm39)	T350A	probably benign	Het
Slc35a1	A	G	4: 34,669,021 (GRCm39)	V264A	probably damaging	Het
Slf2	A	G	19: 44,923,740 (GRCm39)	K185E	probably damaging	Het
Spmip8	T	A	8: 96,039,786 (GRCm39)	S68T	probably benign	Het
Spsb2	T	C	6: 124,786,336 (GRCm39)	F23S	probably benign	Het
Ssx2ip	T	G	3: 146,138,365 (GRCm39)	L404R	probably damaging	Het
Strn4	T	A	7: 16,560,556 (GRCm39)	L236Q	probably null	Het
Tcp10b	A	G	17: 13,288,579 (GRCm39)	T202A	probably benign	Het
Tdp1	G	T	12: 99,878,555 (GRCm39)	V448L	probably damaging	Het
Tecrl	T	C	5: 83,502,666 (GRCm39)	E61G	probably damaging	Het
Trim50	T	C	5: 135,382,465 (GRCm39)	F106L	probably benign	Het
Usp5	G	T	6: 124,801,192 (GRCm39)	F224L	probably benign	Het
Vmn2r114	G	C	17: 23,510,619 (GRCm39)	N620K	probably damaging	Het
Vmn2r45	C	A	7: 8,486,513 (GRCm39)	M258I	probably benign	Het
Zfp574	T	A	7: 24,779,572 (GRCm39)	V198E	probably benign	Het
Zmym4	A	G	4: 126,799,170 (GRCm39)	I722T	probably benign	Het

Other mutations in Cstpp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02737:Cstpp1	APN	2	91,135,142 (GRCm39)	missense	probably damaging	1.00
R6768_1110051M20Rik_026	UTSW	2	91,252,303 (GRCm39)	missense	probably damaging	0.97
BB014:Cstpp1	UTSW	2	91,252,250 (GRCm39)	missense	probably damaging	1.00
R0295:Cstpp1	UTSW	2	91,112,939 (GRCm39)	missense	probably damaging	1.00
R0437:Cstpp1	UTSW	2	91,252,298 (GRCm39)	missense	probably damaging	0.99
R0446:Cstpp1	UTSW	2	91,135,109 (GRCm39)	missense	possibly damaging	0.93
R0846:Cstpp1	UTSW	2	91,214,182 (GRCm39)	missense	probably damaging	0.98
R6768:Cstpp1	UTSW	2	91,252,303 (GRCm39)	missense	probably damaging	0.97
R6888:Cstpp1	UTSW	2	91,252,239 (GRCm39)	missense	probably damaging	1.00
R7751:Cstpp1	UTSW	2	91,214,118 (GRCm39)	missense	probably damaging	1.00
R7754:Cstpp1	UTSW	2	91,135,188 (GRCm39)	splice site	probably null
R7808:Cstpp1	UTSW	2	91,274,939 (GRCm39)	start gained	probably benign
R7927:Cstpp1	UTSW	2	91,252,250 (GRCm39)	missense	probably damaging	1.00
R8817:Cstpp1	UTSW	2	91,107,343 (GRCm39)	missense	probably benign	0.39
R9610:Cstpp1	UTSW	2	91,135,127 (GRCm39)	missense	probably damaging	1.00
R9611:Cstpp1	UTSW	2	91,135,127 (GRCm39)	missense	probably damaging	1.00
R9709:Cstpp1	UTSW	2	91,112,099 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTCTCTGTGGGCCAAGAATTC -3'
(R):5'- ACCATAGCTCAGTTATGGCCAAC -3'

Sequencing Primer
(F):5'- TTCAAACACATGAATCTATGGGGGC -3'
(R):5'- CTCAGTTATGGCCAACGAACTTTG -3'

Posted On

2020-08-01