Mutagenetix > Incidental Mutation

Incidental Mutation 'R7264:Cep192'

564839

Institutional Source

Beutler Lab

Gene Symbol

Cep192

Ensembl Gene

ENSMUSG00000024542

Gene Name

centrosomal protein 192

Synonyms

D430014P18Rik, 4631422C13Rik

MMRRC Submission

045354-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7264 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67933177-68018241 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67953426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 481 (Y481C)

Ref Sequence

ENSEMBL: ENSMUSP00000025425 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025425]

AlphaFold

E9Q4Y4

Predicted Effect

probably damaging
Transcript: ENSMUST00000025425
AA Change: Y481C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025425
Gene: ENSMUSG00000024542
AA Change: Y481C

Domain	Start	End	E-Value	Type
low complexity region	70	84	N/A	INTRINSIC
low complexity region	195	217	N/A	INTRINSIC
low complexity region	975	991	N/A	INTRINSIC
low complexity region	1189	1204	N/A	INTRINSIC
low complexity region	2051	2069	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adora3	C	A	3: 105,812,141 (GRCm39)	T9K	probably benign	Het
Ankib1	T	A	5: 3,805,739 (GRCm39)	N176I	probably damaging	Het
Ankle2	G	A	5: 110,385,689 (GRCm39)	G346D	probably damaging	Het
Anks1b	T	A	10: 90,348,732 (GRCm39)	M800K	probably benign	Het
Arhgef16	C	T	4: 154,365,387 (GRCm39)	G576D	probably damaging	Het
C2cd2	C	A	16: 97,677,419 (GRCm39)		probably null	Het
Cacna1c	T	C	6: 118,579,156 (GRCm39)	N1847S		Het
Camta1	A	G	4: 151,537,856 (GRCm39)	I108T	probably damaging	Het
Catsper4	TTCTC	TTC	4: 133,954,423 (GRCm39)		probably null	Het
Cep250	A	G	2: 155,821,071 (GRCm39)	E887G	probably damaging	Het
Clcn1	C	A	6: 42,275,772 (GRCm39)	A298D	probably damaging	Het
Col11a1	A	G	3: 113,979,248 (GRCm39)	N1305S	unknown	Het
Depdc5	T	C	5: 33,125,089 (GRCm39)	V1155A	probably benign	Het
Dnah1	A	T	14: 30,991,851 (GRCm39)	D3050E	probably benign	Het
Dnah7a	T	C	1: 53,557,973 (GRCm39)	D2147G	probably benign	Het
Fbxl4	T	C	4: 22,386,145 (GRCm39)	Y251H	possibly damaging	Het
Gm19410	A	G	8: 36,252,920 (GRCm39)	M622V	probably benign	Het
Gm3402	T	A	5: 146,451,472 (GRCm39)	M110K	probably damaging	Het
Gm8257	T	A	14: 44,893,817 (GRCm39)	E82D	probably damaging	Het
Gne	T	A	4: 44,042,175 (GRCm39)	I498F	probably damaging	Het
Grep1	A	G	17: 23,931,308 (GRCm39)	S200P	not run	Het
Gstcd	C	T	3: 132,790,540 (GRCm39)	V76I	probably benign	Het
Hgs	G	T	11: 120,365,139 (GRCm39)	V176L	probably benign	Het
Hrob	T	A	11: 102,146,422 (GRCm39)	C233S	probably benign	Het
Igbp1b	T	C	6: 138,635,108 (GRCm39)	N112S	possibly damaging	Het
Itga11	A	T	9: 62,653,190 (GRCm39)	T355S	probably benign	Het
Lama1	A	T	17: 68,050,292 (GRCm39)	H301L		Het
Lhx9	T	C	1: 138,760,489 (GRCm39)	D296G	probably damaging	Het
Lrp1	C	T	10: 127,427,962 (GRCm39)	G537D	probably damaging	Het
Mroh2b	A	G	15: 4,950,844 (GRCm39)	I581V	possibly damaging	Het
Mrps36	A	G	13: 100,875,707 (GRCm39)	S36P	probably benign	Het
Or52z13	T	A	7: 103,246,955 (GRCm39)	I144N	probably damaging	Het
Plcb4	A	T	2: 135,807,000 (GRCm39)	N547I	probably benign	Het
Plch2	T	A	4: 155,083,424 (GRCm39)	M505L	probably damaging	Het
Prg4	T	A	1: 150,329,818 (GRCm39)	N154Y	not run	Het
Rev1	A	T	1: 38,124,682 (GRCm39)	V420D	probably damaging	Het
Rin3	A	G	12: 102,356,374 (GRCm39)	I972V	probably benign	Het
Rtel1	T	C	2: 180,993,654 (GRCm39)	L775P	not run	Het
Scarf2	G	T	16: 17,621,154 (GRCm39)	C274F	possibly damaging	Het
Serinc2	C	T	4: 130,152,052 (GRCm39)	V271I	probably benign	Het
Slpi	C	A	2: 164,198,322 (GRCm39)		probably benign	Het
Spopfm1	C	T	3: 94,173,045 (GRCm39)	H14Y	possibly damaging	Het
Stxbp6	T	C	12: 44,948,782 (GRCm39)	D109G	probably damaging	Het
Tmem74	G	A	15: 43,730,864 (GRCm39)	L60F	probably benign	Het
Trhde	C	T	10: 114,636,776 (GRCm39)	G144S	possibly damaging	Het
Trrap	T	C	5: 144,751,333 (GRCm39)	S1610P	probably benign	Het
Ttc33	C	T	15: 5,246,718 (GRCm39)	Q175*	probably null	Het
Usp34	A	G	11: 23,283,566 (GRCm39)	T106A	probably benign	Het
Vmn1r204	A	G	13: 22,741,167 (GRCm39)	D266G	probably benign	Het
Wdfy3	C	A	5: 102,003,389 (GRCm39)	A2905S	probably benign	Het
Wfs1	A	G	5: 37,125,190 (GRCm39)	L567P	probably damaging	Het
Zfp42	T	C	8: 43,749,312 (GRCm39)	E63G	probably damaging	Het
Zfp957	A	G	14: 79,451,080 (GRCm39)	F240L	probably damaging	Het
Zgrf1	A	T	3: 127,357,218 (GRCm39)	M815L	probably benign	Het

Other mutations in Cep192

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Cep192	APN	18	67,953,407 (GRCm39)	missense	probably damaging	1.00
IGL00163:Cep192	APN	18	68,013,871 (GRCm39)	missense	possibly damaging	0.61
IGL00509:Cep192	APN	18	67,991,939 (GRCm39)	missense	possibly damaging	0.78
IGL01012:Cep192	APN	18	67,945,477 (GRCm39)	missense	possibly damaging	0.95
IGL01143:Cep192	APN	18	67,937,445 (GRCm39)	missense	probably damaging	0.97
IGL01302:Cep192	APN	18	67,991,974 (GRCm39)	missense	probably benign	0.03
IGL01653:Cep192	APN	18	67,986,043 (GRCm39)	missense	possibly damaging	0.57
IGL02202:Cep192	APN	18	67,936,207 (GRCm39)	missense	possibly damaging	0.83
IGL02448:Cep192	APN	18	68,002,518 (GRCm39)	missense	probably benign	0.25
IGL02494:Cep192	APN	18	67,937,453 (GRCm39)	missense	probably benign	0.00
IGL02574:Cep192	APN	18	67,974,350 (GRCm39)	missense	probably damaging	0.99
IGL02624:Cep192	APN	18	68,013,866 (GRCm39)	missense	probably benign	0.20
IGL02646:Cep192	APN	18	67,995,548 (GRCm39)	missense	probably damaging	1.00
IGL02652:Cep192	APN	18	67,991,921 (GRCm39)	splice site	probably benign
IGL02684:Cep192	APN	18	67,967,634 (GRCm39)	missense	probably damaging	0.99
IGL02977:Cep192	APN	18	67,985,976 (GRCm39)	missense	probably damaging	0.97
IGL03000:Cep192	APN	18	67,985,115 (GRCm39)	missense	probably damaging	1.00
IGL03133:Cep192	APN	18	67,943,176 (GRCm39)	missense	probably benign	0.00
IGL03139:Cep192	APN	18	67,961,547 (GRCm39)	critical splice donor site	probably null
IGL03213:Cep192	APN	18	67,998,708 (GRCm39)	missense	probably damaging	1.00
IGL03250:Cep192	APN	18	67,940,426 (GRCm39)	missense	probably benign	0.01
IGL03259:Cep192	APN	18	67,953,483 (GRCm39)	missense	probably damaging	1.00
R0117:Cep192	UTSW	18	67,983,808 (GRCm39)	critical splice donor site	probably null
R0180:Cep192	UTSW	18	67,968,559 (GRCm39)	missense	probably damaging	1.00
R0281:Cep192	UTSW	18	67,961,553 (GRCm39)	splice site	probably benign
R0374:Cep192	UTSW	18	67,951,954 (GRCm39)	nonsense	probably null
R0420:Cep192	UTSW	18	67,946,964 (GRCm39)	missense	possibly damaging	0.91
R0479:Cep192	UTSW	18	67,991,089 (GRCm39)	missense	probably damaging	1.00
R0652:Cep192	UTSW	18	67,940,336 (GRCm39)	missense	probably benign	0.04
R1024:Cep192	UTSW	18	67,971,125 (GRCm39)	missense	probably benign	0.37
R1382:Cep192	UTSW	18	67,989,370 (GRCm39)	missense	possibly damaging	0.74
R1394:Cep192	UTSW	18	67,991,992 (GRCm39)	missense	probably damaging	1.00
R1395:Cep192	UTSW	18	67,991,992 (GRCm39)	missense	probably damaging	1.00
R1641:Cep192	UTSW	18	67,980,504 (GRCm39)	missense	probably damaging	1.00
R1704:Cep192	UTSW	18	67,989,327 (GRCm39)	missense	probably damaging	1.00
R1793:Cep192	UTSW	18	67,984,838 (GRCm39)	missense	possibly damaging	0.74
R1835:Cep192	UTSW	18	67,937,494 (GRCm39)	missense	possibly damaging	0.95
R1978:Cep192	UTSW	18	67,936,228 (GRCm39)	critical splice donor site	probably null
R2164:Cep192	UTSW	18	67,953,431 (GRCm39)	missense	probably damaging	0.99
R2180:Cep192	UTSW	18	67,957,813 (GRCm39)	missense	possibly damaging	0.82
R2307:Cep192	UTSW	18	67,946,970 (GRCm39)	missense	probably benign	0.07
R2442:Cep192	UTSW	18	67,957,759 (GRCm39)	missense	possibly damaging	0.89
R2897:Cep192	UTSW	18	67,988,341 (GRCm39)	splice site	probably null
R2898:Cep192	UTSW	18	67,988,341 (GRCm39)	splice site	probably null
R2901:Cep192	UTSW	18	68,002,512 (GRCm39)	missense	possibly damaging	0.94
R3433:Cep192	UTSW	18	67,967,963 (GRCm39)	missense	probably benign	0.08
R3620:Cep192	UTSW	18	67,962,928 (GRCm39)	missense	probably benign	0.00
R3621:Cep192	UTSW	18	67,962,928 (GRCm39)	missense	probably benign	0.00
R3712:Cep192	UTSW	18	67,953,400 (GRCm39)	missense	probably benign	0.00
R4559:Cep192	UTSW	18	68,004,584 (GRCm39)	missense	probably damaging	1.00
R4590:Cep192	UTSW	18	67,949,862 (GRCm39)	nonsense	probably null
R4591:Cep192	UTSW	18	67,968,039 (GRCm39)	missense	probably damaging	0.99
R4604:Cep192	UTSW	18	67,948,993 (GRCm39)	missense	possibly damaging	0.64
R4627:Cep192	UTSW	18	67,945,440 (GRCm39)	missense	probably benign	0.03
R4725:Cep192	UTSW	18	67,949,837 (GRCm39)	missense	probably benign
R4738:Cep192	UTSW	18	68,017,901 (GRCm39)	nonsense	probably null
R4739:Cep192	UTSW	18	67,984,803 (GRCm39)	missense	probably benign	0.02
R4927:Cep192	UTSW	18	67,968,195 (GRCm39)	missense	probably benign	0.16
R4948:Cep192	UTSW	18	67,949,875 (GRCm39)	missense	probably benign	0.00
R5090:Cep192	UTSW	18	67,993,617 (GRCm39)	missense	possibly damaging	0.60
R5105:Cep192	UTSW	18	67,999,612 (GRCm39)	missense	probably benign	0.08
R5154:Cep192	UTSW	18	67,983,755 (GRCm39)	missense	probably damaging	1.00
R5192:Cep192	UTSW	18	67,968,075 (GRCm39)	missense	probably benign	0.03
R5735:Cep192	UTSW	18	68,013,866 (GRCm39)	missense	probably benign	0.20
R5812:Cep192	UTSW	18	67,984,808 (GRCm39)	missense	possibly damaging	0.49
R5869:Cep192	UTSW	18	67,948,935 (GRCm39)	missense	probably benign	0.01
R5981:Cep192	UTSW	18	67,993,661 (GRCm39)	missense	probably damaging	1.00
R6131:Cep192	UTSW	18	67,971,068 (GRCm39)	missense	possibly damaging	0.65
R6335:Cep192	UTSW	18	67,967,784 (GRCm39)	missense	probably damaging	1.00
R6849:Cep192	UTSW	18	67,945,506 (GRCm39)	missense	probably benign	0.00
R6861:Cep192	UTSW	18	67,974,699 (GRCm39)	missense	probably benign	0.43
R7192:Cep192	UTSW	18	67,983,599 (GRCm39)	missense	probably damaging	0.99
R7397:Cep192	UTSW	18	67,989,268 (GRCm39)	missense	probably damaging	1.00
R7409:Cep192	UTSW	18	67,967,874 (GRCm39)	missense	possibly damaging	0.76
R7696:Cep192	UTSW	18	67,953,434 (GRCm39)	missense	probably damaging	1.00
R7756:Cep192	UTSW	18	67,989,384 (GRCm39)	missense	possibly damaging	0.92
R7758:Cep192	UTSW	18	67,989,384 (GRCm39)	missense	possibly damaging	0.92
R8247:Cep192	UTSW	18	67,974,188 (GRCm39)	missense	probably benign	0.02
R8695:Cep192	UTSW	18	67,951,958 (GRCm39)	nonsense	probably null
R8865:Cep192	UTSW	18	67,967,703 (GRCm39)	missense	probably benign	0.01
R8935:Cep192	UTSW	18	67,995,543 (GRCm39)	missense	probably damaging	1.00
R9453:Cep192	UTSW	18	67,989,354 (GRCm39)	nonsense	probably null
R9571:Cep192	UTSW	18	67,952,109 (GRCm39)	missense	probably damaging	0.98
R9581:Cep192	UTSW	18	67,980,465 (GRCm39)	missense	probably damaging	1.00
R9599:Cep192	UTSW	18	67,968,525 (GRCm39)	missense	probably benign	0.19
R9779:Cep192	UTSW	18	67,968,348 (GRCm39)	missense	probably damaging	1.00
RF003:Cep192	UTSW	18	67,971,027 (GRCm39)	missense	probably benign	0.44
X0066:Cep192	UTSW	18	67,945,520 (GRCm39)	splice site	probably null
Z1176:Cep192	UTSW	18	68,014,359 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGTTGGTGCCATCAGAGG -3'
(R):5'- AACTGTTGGCTGCATCCTTTG -3'

Sequencing Primer
(F):5'- GGTGCCATCAGAGGTATTTCTC -3'
(R):5'- GGCTGCATCCTTTGTAGAAAAG -3'

Posted On

2019-06-26