Mutagenetix > Incidental Mutation

Incidental Mutation 'R9581:Cep192'

722574

Institutional Source

Beutler Lab

Gene Symbol

Cep192

Ensembl Gene

ENSMUSG00000024542

Gene Name

centrosomal protein 192

Synonyms

D430014P18Rik, 4631422C13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9581 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67933177-68018241 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 67980465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 1409 (V1409F)

Ref Sequence

ENSEMBL: ENSMUSP00000025425 (fasta)

Gene Model

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

AlphaFold

E9Q4Y4

Predicted Effect

probably damaging
Transcript: ENSMUST00000025425
AA Change: V1409F

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

SMART Domains

Protein: ENSMUSP00000025425
Gene: ENSMUSG00000024542
AA Change: V1409F

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

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	G	5: 8,790,428 (GRCm39)	I1097R	possibly damaging	Het
Abcd4	A	G	12: 84,650,762 (GRCm39)	S533P	probably damaging	Het
Adat1	C	T	8: 112,705,946 (GRCm39)	V387I	probably benign	Het
Aff3	T	A	1: 38,249,266 (GRCm39)	T614S	probably benign	Het
Aldh1a1	T	A	19: 20,597,417 (GRCm39)	C133S	probably benign	Het
Ankrd12	A	G	17: 66,290,415 (GRCm39)	S1673P	probably damaging	Het
Aox1	T	A	1: 58,370,055 (GRCm39)		probably null	Het
Arsi	A	G	18: 61,050,160 (GRCm39)	T348A	probably damaging	Het
Baz2b	T	C	2: 59,799,300 (GRCm39)	R275G	probably benign	Het
Cdh2	T	A	18: 16,803,112 (GRCm39)		probably benign	Het
Cela1	C	T	15: 100,573,261 (GRCm39)	A243T	probably benign	Het
Chia1	T	C	3: 106,035,879 (GRCm39)	Y240H	possibly damaging	Het
Dact1	A	T	12: 71,365,619 (GRCm39)	K763M	probably damaging	Het
Dip2b	C	A	15: 100,079,255 (GRCm39)	N822K	probably damaging	Het
Dnah12	C	T	14: 26,491,985 (GRCm39)	T1140I	probably damaging	Het
Drc7	T	C	8: 95,785,782 (GRCm39)	S213P	probably damaging	Het
Ell2	A	G	13: 75,912,148 (GRCm39)	D478G	probably benign	Het
Evpl	G	A	11: 116,120,660 (GRCm39)	T483M	probably benign	Het
Farp1	A	T	14: 121,480,841 (GRCm39)	E414V	probably benign	Het
Fbxl17	A	G	17: 63,806,525 (GRCm39)	V163A	probably benign	Het
Foxn3	C	T	12: 99,163,035 (GRCm39)	E289K	probably damaging	Het
Fscb	T	A	12: 64,521,122 (GRCm39)	I115F	probably benign	Het
Gm14496	A	T	2: 181,642,047 (GRCm39)	T573S	probably benign	Het
Golga1	G	T	2: 38,909,573 (GRCm39)	D677E	probably damaging	Het
Herc6	A	T	6: 57,635,101 (GRCm39)	K772N	probably damaging	Het
Ikbkb	T	C	8: 23,155,575 (GRCm39)	D639G	probably damaging	Het
Lrrc61	G	A	6: 48,545,653 (GRCm39)	V159I	possibly damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mib1	A	G	18: 10,775,701 (GRCm39)	D551G	possibly damaging	Het
Muc5ac	G	T	7: 141,363,799 (GRCm39)	R2370L	unknown	Het
Mybpc3	A	G	2: 90,949,616 (GRCm39)	D53G	probably benign	Het
Myo9b	C	T	8: 71,812,543 (GRCm39)	P2105S	probably benign	Het
Naip5	G	T	13: 100,351,194 (GRCm39)	H1271Q	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nmt2	T	C	2: 3,317,212 (GRCm39)	V340A	possibly damaging	Het
Nos1	A	G	5: 118,043,459 (GRCm39)	E578G	probably damaging	Het
Nox3	G	A	17: 3,700,328 (GRCm39)	R462W	possibly damaging	Het
Or10h28	C	A	17: 33,487,995 (GRCm39)	A99D	probably damaging	Het
Or52a20	A	G	7: 103,365,788 (GRCm39)		probably benign	Het
Pcdhgc4	A	G	18: 37,950,189 (GRCm39)	Q535R	probably benign	Het
Pcsk5	T	C	19: 17,432,196 (GRCm39)	D1473G	probably benign	Het
Pdilt	A	T	7: 119,099,633 (GRCm39)	F212I	probably damaging	Het
Ptk2b	A	T	14: 66,450,789 (GRCm39)	V59D	probably damaging	Het
Ptprf	T	C	4: 118,092,257 (GRCm39)	D571G	probably benign	Het
Ptprq	A	T	10: 107,547,771 (GRCm39)	V209E	possibly damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,125 (GRCm39)		probably benign	Het
Schip1	TCTGGCC	TC	3: 68,525,060 (GRCm39)		probably null	Het
Sec16a	C	T	2: 26,328,647 (GRCm39)	V142I		Het
Slamf6	A	G	1: 171,761,897 (GRCm39)	Y106C		Het
Strc	A	G	2: 121,207,928 (GRCm39)	V481A	probably damaging	Het
Sulf1	A	T	1: 12,875,478 (GRCm39)	I163F	possibly damaging	Het
Tjp1	A	G	7: 64,949,472 (GRCm39)	S1637P	probably damaging	Het
Tlr9	A	G	9: 106,101,510 (GRCm39)	E267G	probably damaging	Het
Tmem117	T	A	15: 94,992,268 (GRCm39)	F309L	probably benign	Het
Tmtc4	T	C	14: 123,187,998 (GRCm39)	N196S	probably benign	Het
Trim16	T	A	11: 62,727,557 (GRCm39)	I293K	probably damaging	Het
Trim7	T	C	11: 48,738,887 (GRCm39)	V95A	probably damaging	Het
Ttll6	A	T	11: 96,049,572 (GRCm39)	K763N	probably benign	Het
Tut1	T	C	19: 8,941,981 (GRCm39)	S483P	probably benign	Het
Zfp101	A	T	17: 33,605,730 (GRCm39)	L26*	probably null	Het
Zfp106	C	T	2: 120,365,807 (GRCm39)	R155K		Het
Zfp518a	T	A	19: 40,900,156 (GRCm39)	D28E	probably damaging	Het
Zfp90	T	A	8: 107,151,714 (GRCm39)	S476T	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
R7264:Cep192	UTSW	18	67,953,426 (GRCm39)	missense	probably damaging	1.00
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
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'- TCCGGGCTGAGAATGACTTC -3'
(R):5'- TTTCAGCAATGGCAGTGAGAG -3'

Sequencing Primer
(F):5'- TGAGTTCCAGGGTCAAACTC -3'
(R):5'- AGTGAGAGTAACTCTGCTTCCCAG -3'

Posted On

2022-08-09