Mutagenetix > Incidental Mutation

Incidental Mutation 'R0295:Cstpp1'

37661

Institutional Source

Beutler Lab

Gene Symbol

Cstpp1

Ensembl Gene

ENSMUSG00000040591

Gene Name

centriolar satellite-associated tubulin polyglutamylase complex regulator 1

Synonyms

1110051M20Rik

MMRRC Submission

038512-MU

Accession Numbers

Essential gene?

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

Stock #

R0295 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91105413-91275049 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91112939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 173 (I173N)

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: I173N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000094835
AA Change: I76N

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

SMART Domains

Protein: ENSMUSP00000092431
Gene: ENSMUSG00000040591
AA Change: I76N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000102594
AA Change: I173N

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

SMART Domains

Protein: ENSMUSP00000099654
Gene: ENSMUSG00000040591
AA Change: I173N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132092

Meta Mutation Damage Score

0.5993

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.9%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	G	A	10: 76,290,642 (GRCm39)	S127N	probably damaging	Het
Abcc8	T	C	7: 45,767,478 (GRCm39)	R953G	probably benign	Het
Adamtsl3	T	A	7: 82,197,213 (GRCm39)		probably null	Het
Adh4	A	G	3: 138,134,837 (GRCm39)	D337G	probably damaging	Het
Apob	T	A	12: 8,052,181 (GRCm39)	Y1207*	probably null	Het
Birc6	T	C	17: 74,920,357 (GRCm39)		probably benign	Het
Bms1	A	G	6: 118,366,298 (GRCm39)	I1065T	probably benign	Het
Cacna1i	T	A	15: 80,240,412 (GRCm39)	L378Q	probably damaging	Het
Ccdc127	C	A	13: 74,504,989 (GRCm39)	P179H	probably damaging	Het
Ccdc18	A	T	5: 108,321,655 (GRCm39)	K586N	probably damaging	Het
Cep290	A	C	10: 100,373,683 (GRCm39)	E1321A	probably damaging	Het
Ctc1	A	G	11: 68,921,414 (GRCm39)	K682E	possibly damaging	Het
Cux1	A	C	5: 136,342,066 (GRCm39)	V442G	probably benign	Het
Dph2	A	T	4: 117,748,127 (GRCm39)	V150E	possibly damaging	Het
Etv6	A	G	6: 134,243,238 (GRCm39)	D331G	probably benign	Het
Fbxo42	A	G	4: 140,927,808 (GRCm39)	D696G	probably damaging	Het
Fbxo8	G	A	8: 57,043,109 (GRCm39)	D198N	probably benign	Het
Gria4	T	C	9: 4,793,840 (GRCm39)	T73A	possibly damaging	Het
H2aj	C	G	6: 136,785,602 (GRCm39)	R89G	probably damaging	Het
Ifng	G	T	10: 118,277,154 (GRCm39)	S32I	possibly damaging	Het
Ildr1	A	G	16: 36,529,839 (GRCm39)		probably null	Het
Knl1	A	C	2: 118,919,320 (GRCm39)	D1824A	probably damaging	Het
Lamp3	A	T	16: 19,519,858 (GRCm39)	Y108*	probably null	Het
Lcp1	A	G	14: 75,436,860 (GRCm39)	I69V	probably null	Het
Lrp6	A	T	6: 134,434,656 (GRCm39)	V1349E	probably benign	Het
Lrrcc1	A	T	3: 14,630,909 (GRCm39)	E1009D	probably benign	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Med14	G	C	X: 12,551,987 (GRCm39)	R1223G	probably damaging	Het
Mesd	C	T	7: 83,547,073 (GRCm39)	Q179*	probably null	Het
Myh7	A	G	14: 55,222,278 (GRCm39)		probably benign	Het
Myo6	T	C	9: 80,190,861 (GRCm39)	I804T	probably damaging	Het
Neb	T	C	2: 52,174,297 (GRCm39)	I1521V	possibly damaging	Het
Nosip	T	A	7: 44,726,340 (GRCm39)	I249N	probably damaging	Het
Nostrin	A	C	2: 69,009,760 (GRCm39)	E296A	probably benign	Het
Oprk1	T	C	1: 5,669,073 (GRCm39)	L173S	possibly damaging	Het
Or2n1d	A	T	17: 38,646,182 (GRCm39)	I45F	probably damaging	Het
Or4k36	T	A	2: 111,146,499 (GRCm39)	V225D	probably damaging	Het
Or51v8	T	C	7: 103,319,518 (GRCm39)	H240R	probably damaging	Het
Or5p1	T	G	7: 107,916,892 (GRCm39)	S264A	probably benign	Het
Pdzd7	A	G	19: 45,025,511 (GRCm39)	V328A	probably benign	Het
Podxl2	A	T	6: 88,826,660 (GRCm39)	S215R	probably benign	Het
Prss36	T	G	7: 127,535,027 (GRCm39)	T418P	possibly damaging	Het
Ralgps2	T	A	1: 156,651,555 (GRCm39)		probably benign	Het
Rasa2	T	C	9: 96,427,863 (GRCm39)		probably null	Het
Rgs1	A	T	1: 144,121,224 (GRCm39)	I149N	probably damaging	Het
Rgs16	A	G	1: 153,619,483 (GRCm39)	E163G	probably damaging	Het
Rnf121	A	G	7: 101,684,553 (GRCm39)	F120S	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slfn8	A	T	11: 82,894,169 (GRCm39)	Y823*	probably null	Het
Spdl1	A	T	11: 34,704,170 (GRCm39)	N554K	possibly damaging	Het
St6gal1	T	A	16: 23,174,953 (GRCm39)		probably benign	Het
Tet3	G	A	6: 83,346,121 (GRCm39)	P1304S	probably benign	Het
Timm29	T	C	9: 21,504,372 (GRCm39)		probably null	Het
Tpcn1	T	A	5: 120,677,125 (GRCm39)	I687F	probably damaging	Het
Trim46	A	G	3: 89,152,420 (GRCm39)		probably benign	Het
Ttc23	T	A	7: 67,319,600 (GRCm39)		probably benign	Het
Ttll6	G	T	11: 96,045,540 (GRCm39)	V586L	probably benign	Het
Ttn	A	T	2: 76,588,955 (GRCm39)		probably benign	Het
Uba3	A	T	6: 97,168,544 (GRCm39)	H160Q	possibly damaging	Het
Usp32	A	G	11: 84,944,518 (GRCm39)	S316P	probably damaging	Het
Vcan	T	C	13: 89,860,310 (GRCm39)	I352M	probably benign	Het
Zcwpw1	G	T	5: 137,815,734 (GRCm39)	L412F	probably damaging	Het
Zfp292	A	T	4: 34,806,281 (GRCm39)	N2254K	probably damaging	Het
Zscan4e	A	G	7: 11,041,543 (GRCm39)	S138P	probably damaging	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
BB004:Cstpp1	UTSW	2	91,252,250 (GRCm39)	missense	probably damaging	1.00
BB014:Cstpp1	UTSW	2	91,252,250 (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'- GGGGCATAGAAACCCTGAACCAATC -3'
(R):5'- ACTGAAGCTGGACAGACTGAGACAC -3'

Sequencing Primer
(F):5'- AGAGACTTGTTCTCAGCAGC -3'
(R):5'- CAGACTGAGACACAAAGAAGC -3'

Posted On

2013-05-23