Mutagenetix > Incidental Mutation

Incidental Mutation 'R9177:Cep164'

696758

Institutional Source

Beutler Lab

Gene Symbol

Cep164

Ensembl Gene

ENSMUSG00000043987

Gene Name

centrosomal protein 164

Synonyms

MMRRC Submission

068949-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9177 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45678244-45739984 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45691060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 379 (E379V)

Ref Sequence

ENSEMBL: ENSMUSP00000150742 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117194] [ENSMUST00000213154] [ENSMUST00000216284] [ENSMUST00000217554]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117194
AA Change: E539V

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114053
Gene: ENSMUSG00000043987
AA Change: E539V

Domain	Start	End	E-Value	Type
WW	57	89	1.99e-3	SMART
low complexity region	110	127	N/A	INTRINSIC
low complexity region	189	201	N/A	INTRINSIC
low complexity region	210	229	N/A	INTRINSIC
low complexity region	362	375	N/A	INTRINSIC
coiled coil region	511	735	N/A	INTRINSIC
low complexity region	741	756	N/A	INTRINSIC
coiled coil region	761	931	N/A	INTRINSIC
low complexity region	956	962	N/A	INTRINSIC
coiled coil region	1057	1084	N/A	INTRINSIC
low complexity region	1095	1110	N/A	INTRINSIC
low complexity region	1141	1168	N/A	INTRINSIC
low complexity region	1185	1195	N/A	INTRINSIC
low complexity region	1235	1248	N/A	INTRINSIC
low complexity region	1309	1318	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000132430
AA Change: E416V

SMART Domains

Protein: ENSMUSP00000117344
Gene: ENSMUSG00000043987
AA Change: E416V

Domain	Start	End	E-Value	Type
low complexity region	141	154	N/A	INTRINSIC
coiled coil region	325	612	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213154
AA Change: E1240V

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216284
AA Change: E379V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000217554

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,775,677 (GRCm39)	V1622D	probably damaging	Het
Acadsb	C	T	7: 131,033,763 (GRCm39)	T260I	probably damaging	Het
Acap2	A	T	16: 30,955,392 (GRCm39)	V161E	probably damaging	Het
Alk	T	C	17: 72,181,190 (GRCm39)	T1367A	probably damaging	Het
Atg2a	A	C	19: 6,291,905 (GRCm39)	H27P	probably damaging	Het
Atp2c1	C	T	9: 105,336,858 (GRCm39)		probably null	Het
C1s1	T	G	6: 124,508,362 (GRCm39)	K542N	probably damaging	Het
Camk1d	A	G	2: 5,303,901 (GRCm39)	S351P	probably benign	Het
Carf	C	A	1: 60,148,558 (GRCm39)	Q85K	possibly damaging	Het
Caskin2	T	C	11: 115,698,683 (GRCm39)	N43S	probably damaging	Het
Cd40	T	C	2: 164,905,465 (GRCm39)	C161R	probably damaging	Het
Cdh19	A	G	1: 110,877,111 (GRCm39)	F76S	probably damaging	Het
Cdkl1	T	C	12: 69,794,100 (GRCm39)	N346D	probably benign	Het
Cdon	A	G	9: 35,381,230 (GRCm39)	D540G	probably benign	Het
Clock	T	C	5: 76,377,256 (GRCm39)	N681S	probably benign	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Col6a5	T	G	9: 105,808,152 (GRCm39)	K965N	unknown	Het
Dctn4	T	A	18: 60,659,304 (GRCm39)	M1K	probably null	Het
Dhx30	T	C	9: 109,915,750 (GRCm39)	D741G	probably damaging	Het
Dhx37	A	G	5: 125,507,958 (GRCm39)	V104A	probably benign	Het
Dnah12	A	G	14: 26,571,255 (GRCm39)	K2788R	possibly damaging	Het
Egfr	T	A	11: 16,855,410 (GRCm39)	D898E	probably damaging	Het
Eif2ak4	G	C	2: 118,271,701 (GRCm39)		probably null	Het
Eif6	A	G	2: 155,665,852 (GRCm39)	L101P	probably damaging	Het
Etaa1	A	T	11: 17,896,419 (GRCm39)	V566E	probably damaging	Het
Far2	C	T	6: 148,060,418 (GRCm39)	T257I	probably benign	Het
Fuca2	G	A	10: 13,390,563 (GRCm39)	W453*	probably null	Het
Galntl6	A	T	8: 58,310,590 (GRCm39)	Y370*	probably null	Het
Gcn1	T	C	5: 115,719,867 (GRCm39)	V374A	probably benign	Het
Hjv	T	C	3: 96,435,881 (GRCm39)	F380L	probably benign	Het
Hycc2	T	C	1: 58,591,361 (GRCm39)	D94G	probably damaging	Het
Ifi202b	A	T	1: 173,804,949 (GRCm39)	M1K	probably null	Het
Lama4	A	G	10: 38,950,688 (GRCm39)	Y997C	probably damaging	Het
Lepr	T	A	4: 101,602,798 (GRCm39)	C195*	probably null	Het
Lrrc37	T	A	11: 103,508,263 (GRCm39)	H1235L	unknown	Het
Lrrc73	T	C	17: 46,565,535 (GRCm39)	S89P	probably benign	Het
Macf1	T	C	4: 123,367,582 (GRCm39)	E2393G	probably damaging	Het
Mdga2	T	A	12: 66,517,481 (GRCm39)	T118S	possibly damaging	Het
Msantd5f3	T	C	4: 73,575,373 (GRCm39)	S351P	probably damaging	Het
Mtf2	A	G	5: 108,234,949 (GRCm39)	K124R	probably benign	Het
Muc5b	T	C	7: 141,399,075 (GRCm39)	Y339H	unknown	Het
Nes	G	A	3: 87,887,012 (GRCm39)	G1757E	probably damaging	Het
Nfatc4	A	T	14: 56,064,685 (GRCm39)	I391F	probably damaging	Het
Nup93	A	T	8: 94,954,371 (GRCm39)	I23F	probably benign	Het
Or4a27	A	C	2: 88,559,174 (GRCm39)	Y256*	probably null	Het
Or5h17	T	G	16: 58,820,083 (GRCm39)	F12V	probably damaging	Het
Or6y1	A	C	1: 174,276,923 (GRCm39)	T245P	probably damaging	Het
Or7g16	G	T	9: 18,726,742 (GRCm39)	Q283K	probably damaging	Het
Or9i14	A	T	19: 13,792,388 (GRCm39)	C189S	probably damaging	Het
Pak5	A	C	2: 135,943,126 (GRCm39)	M338R	probably benign	Het
Papola	A	G	12: 105,766,032 (GRCm39)	E44G	probably benign	Het
Pcdh15	A	T	10: 74,479,455 (GRCm39)	E522V	probably benign	Het
Peli2	A	G	14: 48,518,927 (GRCm39)	E225G	probably benign	Het
Pla2g1b	T	G	5: 115,612,595 (GRCm39)	I117S	probably damaging	Het
Plxnd1	G	T	6: 115,943,469 (GRCm39)	Q1246K	probably benign	Het
Pole	A	G	5: 110,480,288 (GRCm39)	E1953G	probably benign	Het
Pus7l	T	C	15: 94,431,445 (GRCm39)	I395V	probably benign	Het
Shisa7	T	G	7: 4,837,333 (GRCm39)	D244A	probably damaging	Het
Slco3a1	T	C	7: 73,952,946 (GRCm39)	T538A	probably benign	Het
Syk	T	A	13: 52,766,480 (GRCm39)	N188K	probably benign	Het
Tcf20	A	G	15: 82,740,705 (GRCm39)	S249P	probably benign	Het
Tmem25	T	C	9: 44,709,529 (GRCm39)	T91A	possibly damaging	Het
Trank1	T	C	9: 111,221,579 (GRCm39)	V2772A	probably benign	Het
Ttn	A	T	2: 76,596,447 (GRCm39)	Y20155*	probably null	Het
Uchl4	C	T	9: 64,142,986 (GRCm39)	H156Y	probably benign	Het
Ulbp1	A	T	10: 7,396,392 (GRCm39)	L295Q	unknown	Het
Vwf	G	A	6: 125,581,254 (GRCm39)	A631T		Het
Zfp810	C	T	9: 22,189,936 (GRCm39)	C324Y	probably damaging	Het
Zswim8	T	C	14: 20,761,908 (GRCm39)	L227P	probably damaging	Het

Other mutations in Cep164

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00983:Cep164	APN	9	45,686,554 (GRCm39)	missense	possibly damaging	0.46
IGL01571:Cep164	APN	9	45,705,636 (GRCm39)	missense	possibly damaging	0.82
IGL01985:Cep164	APN	9	45,690,904 (GRCm39)	missense	probably damaging	1.00
IGL01989:Cep164	APN	9	45,704,313 (GRCm39)	splice site	probably benign
IGL02130:Cep164	APN	9	45,691,090 (GRCm39)	missense	possibly damaging	0.82
IGL02598:Cep164	APN	9	45,682,002 (GRCm39)	missense	probably damaging	1.00
IGL03206:Cep164	APN	9	45,714,023 (GRCm39)	missense	probably benign	0.00
R0063:Cep164	UTSW	9	45,679,916 (GRCm39)	missense	possibly damaging	0.83
R0109:Cep164	UTSW	9	45,682,885 (GRCm39)	missense	probably damaging	1.00
R0528:Cep164	UTSW	9	45,688,234 (GRCm39)	unclassified	probably benign
R0532:Cep164	UTSW	9	45,721,124 (GRCm39)	nonsense	probably null
R1445:Cep164	UTSW	9	45,690,198 (GRCm39)	missense	possibly damaging	0.66
R1753:Cep164	UTSW	9	45,704,235 (GRCm39)	missense	probably damaging	0.99
R1824:Cep164	UTSW	9	45,690,226 (GRCm39)	missense	probably damaging	1.00
R1856:Cep164	UTSW	9	45,687,056 (GRCm39)	splice site	probably null
R1858:Cep164	UTSW	9	45,734,938 (GRCm39)	splice site	probably benign
R1900:Cep164	UTSW	9	45,721,123 (GRCm39)	missense	probably damaging	1.00
R1911:Cep164	UTSW	9	45,682,104 (GRCm39)	missense	probably benign	0.09
R2032:Cep164	UTSW	9	45,682,898 (GRCm39)	missense	probably damaging	1.00
R2133:Cep164	UTSW	9	45,714,481 (GRCm39)	missense	probably damaging	1.00
R2186:Cep164	UTSW	9	45,679,876 (GRCm39)	missense	probably damaging	1.00
R2511:Cep164	UTSW	9	45,686,547 (GRCm39)	missense	probably damaging	1.00
R4424:Cep164	UTSW	9	45,691,002 (GRCm39)	missense	possibly damaging	0.92
R5126:Cep164	UTSW	9	45,698,722 (GRCm39)	critical splice donor site	probably null
R5997:Cep164	UTSW	9	45,680,761 (GRCm39)	missense	possibly damaging	0.92
R6186:Cep164	UTSW	9	45,705,407 (GRCm39)	missense	probably damaging	0.98
R6357:Cep164	UTSW	9	45,682,182 (GRCm39)	missense	probably damaging	1.00
R6385:Cep164	UTSW	9	45,691,081 (GRCm39)	missense	probably damaging	0.99
R6632:Cep164	UTSW	9	45,691,088 (GRCm39)	missense	possibly damaging	0.66
R6957:Cep164	UTSW	9	45,683,578 (GRCm39)	critical splice donor site	probably null
R7310:Cep164	UTSW	9	45,686,664 (GRCm39)	missense	probably damaging	1.00
R7420:Cep164	UTSW	9	45,679,840 (GRCm39)	missense	probably benign	0.01
R7651:Cep164	UTSW	9	45,685,150 (GRCm39)	missense	probably benign	0.18
R7918:Cep164	UTSW	9	45,690,986 (GRCm39)	critical splice donor site	probably null
R7982:Cep164	UTSW	9	45,690,162 (GRCm39)	missense	probably benign	0.40
R8010:Cep164	UTSW	9	45,734,969 (GRCm39)	missense	unknown
R8391:Cep164	UTSW	9	45,718,491 (GRCm39)	missense	unknown
R8553:Cep164	UTSW	9	45,718,508 (GRCm39)	unclassified	probably benign
R8700:Cep164	UTSW	9	45,686,667 (GRCm39)	critical splice acceptor site	probably null
R9348:Cep164	UTSW	9	45,717,708 (GRCm39)	missense	unknown
R9460:Cep164	UTSW	9	45,685,282 (GRCm39)	missense	probably benign
R9729:Cep164	UTSW	9	45,682,897 (GRCm39)	missense	probably damaging	1.00
X0024:Cep164	UTSW	9	45,687,161 (GRCm39)	critical splice donor site	probably null
X0028:Cep164	UTSW	9	45,682,265 (GRCm39)	missense	probably damaging	1.00
X0065:Cep164	UTSW	9	45,686,085 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TCCAAGCTGGCTCTTTCAG -3'
(R):5'- CTTTGTAGGTAGGCCTCGAG -3'

Sequencing Primer
(F):5'- CTTCTCGAAGCCTCTGTAGGG -3'
(R):5'- GGCTCTCAGAGATGGGTCCTAAATAC -3'

Posted On

2022-02-07