Mutagenetix > Incidental Mutation

Incidental Mutation 'R7615:Cep170b'

588872

Institutional Source

Beutler Lab

Gene Symbol

Cep170b

Ensembl Gene

ENSMUSG00000072825

Gene Name

centrosomal protein 170B

Synonyms

MMRRC Submission

045683-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.651) question?

Stock #

R7615 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112720455-112746592 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112744665 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1493 (V1493A)

Ref Sequence

ENSEMBL: ENSMUSP00000098580 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092279] [ENSMUST00000101018] [ENSMUST00000179041] [ENSMUST00000220627] [ENSMUST00000222711]

AlphaFold

Q80U49

Predicted Effect

probably damaging
Transcript: ENSMUST00000092279
AA Change: V577A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000089930
Gene: ENSMUSG00000072825
AA Change: V577A

Domain	Start	End	E-Value	Type
FHA	22	73	4.65e-10	SMART
Pfam:CEP170_C	204	598	8.9e-174	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000101018
AA Change: V1493A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098580
Gene: ENSMUSG00000072825
AA Change: V1493A

Domain	Start	End	E-Value	Type
FHA	22	73	4.65e-10	SMART
low complexity region	370	382	N/A	INTRINSIC
low complexity region	535	548	N/A	INTRINSIC
low complexity region	676	690	N/A	INTRINSIC
low complexity region	739	757	N/A	INTRINSIC
Pfam:CEP170_C	831	1514	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000179041
AA Change: V1493A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137331
Gene: ENSMUSG00000072825
AA Change: V1493A

Domain	Start	End	E-Value	Type
FHA	22	73	4.65e-10	SMART
low complexity region	370	382	N/A	INTRINSIC
low complexity region	535	548	N/A	INTRINSIC
low complexity region	676	690	N/A	INTRINSIC
low complexity region	739	757	N/A	INTRINSIC
Pfam:CEP170_C	832	1510	4.3e-303	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000220627
AA Change: V1458A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222711
AA Change: V1493A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

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

Validation Efficiency

100% (101/101)

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	C	7: 43,497,849 (GRCm38)	I320V	possibly damaging	Het
Adat2	A	G	10: 13,553,276 (GRCm38)	K4R	probably benign	Het
Adgb	G	A	10: 10,436,010 (GRCm38)	L226F	probably damaging	Het
Adgrb3	C	T	1: 25,098,897 (GRCm38)	V1192I	probably damaging	Het
Ahsa2	T	A	11: 23,496,750 (GRCm38)	N71I	possibly damaging	Het
Amigo2	T	G	15: 97,245,342 (GRCm38)	T400P	probably damaging	Het
Ankhd1	A	T	18: 36,656,773 (GRCm38)	Q466L		Het
Auh	T	C	13: 52,919,013 (GRCm38)	I111V	probably benign	Het
Brwd1	A	G	16: 96,033,839 (GRCm38)	F942L	probably damaging	Het
C1qtnf7	A	G	5: 43,616,144 (GRCm38)	N262D	probably damaging	Het
Cdh9	T	A	15: 16,856,230 (GRCm38)	S785R	probably damaging	Het
Celsr3	A	G	9: 108,837,652 (GRCm38)	T2046A	possibly damaging	Het
Cep290	C	T	10: 100,492,681 (GRCm38)	R111W	probably benign	Het
Chd2	T	A	7: 73,441,642 (GRCm38)	H1617L	probably damaging	Het
Ciao3	C	T	17: 25,782,129 (GRCm38)	P452S	probably benign	Het
Clnk	T	C	5: 38,706,698 (GRCm38)	D404G	probably damaging	Het
Col18a1	C	T	10: 77,067,005 (GRCm38)	G795D	probably damaging	Het
Csf3r	T	A	4: 126,037,656 (GRCm38)	Y477*	probably null	Het
Dnah17	T	A	11: 118,110,547 (GRCm38)	K857*	probably null	Het
Dnah2	T	G	11: 69,435,304 (GRCm38)	I3674L	probably damaging	Het
Dnah6	A	C	6: 73,095,206 (GRCm38)	I2431S	possibly damaging	Het
Eml6	T	A	11: 29,802,501 (GRCm38)	I971F	possibly damaging	Het
Fam135b	A	T	15: 71,463,323 (GRCm38)	I674N	probably damaging	Het
Fancc	T	A	13: 63,317,558 (GRCm38)		probably null	Het
Gabrb2	A	C	11: 42,626,742 (GRCm38)	K464Q	probably benign	Het
Gbp4	T	A	5: 105,122,982 (GRCm38)	D261V	possibly damaging	Het
Gdf3	A	G	6: 122,606,916 (GRCm38)	V164A	probably benign	Het
Gm19410	A	G	8: 35,796,359 (GRCm38)	D978G	probably damaging	Het
Gm20730	C	T	6: 43,081,774 (GRCm38)	G35R	probably null	Het
Grin2b	G	A	6: 135,923,364 (GRCm38)	T173I	probably damaging	Het
Gtf3c3	A	T	1: 54,423,572 (GRCm38)	V344E	possibly damaging	Het
Hsd3b5	A	G	3: 98,630,104 (GRCm38)	I32T	probably damaging	Het
Ido1	G	C	8: 24,593,188 (GRCm38)	L74V	probably damaging	Het
Igkv1-88	T	A	6: 68,862,373 (GRCm38)	D85V	probably damaging	Het
Il22ra1	A	G	4: 135,737,459 (GRCm38)	I159V	probably benign	Het
Iqgap1	A	G	7: 80,751,346 (GRCm38)	V531A	probably benign	Het
Iqgap1	A	T	7: 80,730,100 (GRCm38)	F1175Y	probably damaging	Het
Itga1	T	A	13: 114,996,922 (GRCm38)	Q484L	probably null	Het
Itga11	A	T	9: 62,744,018 (GRCm38)	E281V	probably benign	Het
Kpna3	T	C	14: 61,372,962 (GRCm38)	N343S	possibly damaging	Het
Larp1b	A	G	3: 41,035,816 (GRCm38)	N133S	probably benign	Het
Larp1b	A	G	3: 41,033,534 (GRCm38)	K64E	possibly damaging	Het
Lctl	T	A	9: 64,122,110 (GRCm38)	L161H	probably damaging	Het
Mlip	A	G	9: 77,230,483 (GRCm38)	S381P	probably damaging	Het
Mroh9	A	G	1: 163,046,032 (GRCm38)	I518T	probably benign	Het
Mst1r	A	G	9: 107,920,012 (GRCm38)	Q1360R	probably benign	Het
Muc5b	T	A	7: 141,864,892 (GRCm38)	C3858*	probably null	Het
Naip1	A	T	13: 100,425,776 (GRCm38)	H960Q	probably benign	Het
Neo1	A	T	9: 58,884,503 (GRCm38)	S1321T	probably benign	Het
Nid2	C	A	14: 19,802,530 (GRCm38)	T1102K	probably damaging	Het
Nsmaf	C	T	4: 6,408,563 (GRCm38)	V739M	probably damaging	Het
Or1o2	T	G	17: 37,231,450 (GRCm38)	K307Q	probably benign	Het
Or4k15	T	G	14: 50,126,989 (GRCm38)	S137R	probably benign	Het
Or5ar1	T	A	2: 85,841,657 (GRCm38)	M45L	probably benign	Het
Or5b110-ps1	A	G	19: 13,282,590 (GRCm38)	I156T	probably damaging	Het
Or5d39	T	C	2: 88,149,518 (GRCm38)	Q167R	probably benign	Het
Osbpl9	G	A	4: 109,086,339 (GRCm38)	P159S	probably damaging	Het
Parpbp	A	G	10: 88,093,637 (GRCm38)	S450P	probably damaging	Het
Pdgfrb	A	G	18: 61,064,046 (GRCm38)	T185A	probably benign	Het
Pkd1	T	C	17: 24,593,502 (GRCm38)	V3803A	probably damaging	Het
Plau	A	T	14: 20,839,466 (GRCm38)	K200*	probably null	Het
Plce1	A	T	19: 38,524,665 (GRCm38)	Q136L	probably benign	Het
Plekhd1	C	T	12: 80,722,445 (GRCm38)	T493I	probably benign	Het
Pofut1	T	C	2: 153,259,418 (GRCm38)	S31P	unknown	Het
Prlr	T	A	15: 10,325,924 (GRCm38)	I243N	probably damaging	Het
Ptgis	A	G	2: 167,223,988 (GRCm38)	L174P	probably damaging	Het
Ralgapb	T	A	2: 158,450,270 (GRCm38)	I792K	probably damaging	Het
Retreg3	C	T	11: 101,102,980 (GRCm38)	S136N	probably damaging	Het
Rigi	T	A	4: 40,229,653 (GRCm38)	I89F	possibly damaging	Het
Rnf213	C	T	11: 119,467,297 (GRCm38)	T4291M		Het
Rtn1	A	G	12: 72,304,143 (GRCm38)	Y431H	probably damaging	Het
Rwdd3	A	G	3: 121,171,604 (GRCm38)		probably benign	Het
Scyl3	A	T	1: 163,950,338 (GRCm38)		probably null	Het
Sh2b2	G	T	5: 136,219,657 (GRCm38)	Q510K	probably damaging	Het
Sh2b3	G	A	5: 121,818,700 (GRCm38)	P333S	probably benign	Het
Sirpd	A	G	3: 15,320,485 (GRCm38)	V119A	probably damaging	Het
Slc27a6	A	T	18: 58,609,183 (GRCm38)	N490Y	probably damaging	Het
Slc45a1	C	T	4: 150,638,545 (GRCm38)	R294Q	probably benign	Het
Sorl1	A	C	9: 41,977,582 (GRCm38)	I1974S	possibly damaging	Het
Specc1l	C	A	10: 75,263,286 (GRCm38)	N857K	probably benign	Het
Speg	T	C	1: 75,429,242 (GRCm38)	L3030P	probably damaging	Het
Spsb1	A	C	4: 149,906,900 (GRCm38)	D70E	probably benign	Het
Srsf11	A	G	3: 158,016,425 (GRCm38)	S270P	unknown	Het
Ssr3	A	C	3: 65,387,792 (GRCm38)	V100G	probably damaging	Het
Synpo	G	A	18: 60,604,475 (GRCm38)	T133I	probably damaging	Het
Tas2r120	T	G	6: 132,657,810 (GRCm38)	V285G	probably benign	Het
Tenm4	T	A	7: 96,845,926 (GRCm38)	V1187D	probably damaging	Het
Tmed8	C	A	12: 87,181,388 (GRCm38)		probably null	Het
Tmem51	G	A	4: 142,037,564 (GRCm38)	T61M	probably damaging	Het
Tonsl	A	T	15: 76,630,607 (GRCm38)	D1132E	probably benign	Het
Tor1aip1	C	T	1: 156,007,584 (GRCm38)	V358I	possibly damaging	Het
Txlna	A	T	4: 129,630,319 (GRCm38)	M415K	probably damaging	Het
Tyms	T	A	5: 30,073,560 (GRCm38)		probably benign	Het
Uggt2	G	T	14: 119,089,269 (GRCm38)	L177I	probably benign	Het
Uqcrh	T	C	4: 116,069,879 (GRCm38)	H74R	probably benign	Het
Wnk1	A	T	6: 119,932,738 (GRCm38)	S33T	probably benign	Het
Zfp553	T	A	7: 127,236,016 (GRCm38)	C248S	probably damaging	Het
Zfp574	G	A	7: 25,080,576 (GRCm38)	C341Y	possibly damaging	Het
Zfp729b	T	C	13: 67,591,498 (GRCm38)	T883A	possibly damaging	Het
Zfp738	T	A	13: 67,670,203 (GRCm38)	K556N	probably damaging	Het

Other mutations in Cep170b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Cep170b	APN	12	112,735,194 (GRCm38)	missense	probably damaging	1.00
IGL01313:Cep170b	APN	12	112,735,652 (GRCm38)	missense	probably damaging	1.00
IGL01317:Cep170b	APN	12	112,737,644 (GRCm38)	missense	probably damaging	1.00
IGL01660:Cep170b	APN	12	112,744,160 (GRCm38)	missense	probably damaging	1.00
IGL02032:Cep170b	APN	12	112,737,333 (GRCm38)	critical splice donor site	probably null
IGL02505:Cep170b	APN	12	112,743,070 (GRCm38)	missense	probably damaging	1.00
IGL02966:Cep170b	APN	12	112,736,444 (GRCm38)	missense	possibly damaging	0.75
IGL03111:Cep170b	APN	12	112,735,179 (GRCm38)	missense	probably damaging	1.00
IGL03367:Cep170b	APN	12	112,737,238 (GRCm38)	missense	probably benign	0.00
R0348:Cep170b	UTSW	12	112,736,806 (GRCm38)	missense	probably damaging	1.00
R0562:Cep170b	UTSW	12	112,739,189 (GRCm38)	missense	probably benign	0.00
R0909:Cep170b	UTSW	12	112,732,039 (GRCm38)	missense	probably null	0.06
R1217:Cep170b	UTSW	12	112,740,905 (GRCm38)	missense	probably damaging	0.99
R1300:Cep170b	UTSW	12	112,737,257 (GRCm38)	missense	probably benign	0.02
R1647:Cep170b	UTSW	12	112,736,372 (GRCm38)	missense	probably damaging	1.00
R1648:Cep170b	UTSW	12	112,736,372 (GRCm38)	missense	probably damaging	1.00
R1652:Cep170b	UTSW	12	112,733,513 (GRCm38)	missense	probably damaging	0.99
R1737:Cep170b	UTSW	12	112,736,627 (GRCm38)	missense	possibly damaging	0.71
R1936:Cep170b	UTSW	12	112,735,738 (GRCm38)	missense	probably damaging	1.00
R1962:Cep170b	UTSW	12	112,738,061 (GRCm38)	missense	probably damaging	1.00
R2094:Cep170b	UTSW	12	112,735,730 (GRCm38)	missense	possibly damaging	0.90
R2208:Cep170b	UTSW	12	112,738,985 (GRCm38)	missense	probably benign	0.00
R3418:Cep170b	UTSW	12	112,738,468 (GRCm38)	nonsense	probably null
R3735:Cep170b	UTSW	12	112,741,004 (GRCm38)	missense	probably damaging	1.00
R3736:Cep170b	UTSW	12	112,741,004 (GRCm38)	missense	probably damaging	1.00
R4299:Cep170b	UTSW	12	112,739,305 (GRCm38)	missense	probably damaging	1.00
R4577:Cep170b	UTSW	12	112,744,718 (GRCm38)	missense	probably damaging	1.00
R5199:Cep170b	UTSW	12	112,744,147 (GRCm38)	missense	probably damaging	1.00
R5512:Cep170b	UTSW	12	112,733,485 (GRCm38)	missense	possibly damaging	0.86
R5575:Cep170b	UTSW	12	112,735,632 (GRCm38)	missense	probably damaging	1.00
R5643:Cep170b	UTSW	12	112,740,841 (GRCm38)	missense	probably benign	0.35
R6074:Cep170b	UTSW	12	112,744,155 (GRCm38)	missense	probably damaging	1.00
R6265:Cep170b	UTSW	12	112,744,559 (GRCm38)	missense	probably damaging	1.00
R6371:Cep170b	UTSW	12	112,740,945 (GRCm38)	missense	probably damaging	1.00
R6376:Cep170b	UTSW	12	112,732,068 (GRCm38)	missense	probably damaging	0.99
R7055:Cep170b	UTSW	12	112,735,715 (GRCm38)	missense	probably damaging	1.00
R7137:Cep170b	UTSW	12	112,735,167 (GRCm38)	missense	probably benign
R7226:Cep170b	UTSW	12	112,737,925 (GRCm38)	missense	possibly damaging	0.80
R7831:Cep170b	UTSW	12	112,744,800 (GRCm38)	missense	probably benign	0.08
R8178:Cep170b	UTSW	12	112,739,285 (GRCm38)	missense	possibly damaging	0.92
R8492:Cep170b	UTSW	12	112,744,700 (GRCm38)	missense	probably damaging	1.00
R8838:Cep170b	UTSW	12	112,743,725 (GRCm38)	missense	probably damaging	1.00
R8859:Cep170b	UTSW	12	112,736,447 (GRCm38)	missense	probably benign
R9573:Cep170b	UTSW	12	112,724,720 (GRCm38)	missense	probably damaging	1.00
R9643:Cep170b	UTSW	12	112,737,611 (GRCm38)	missense	probably damaging	1.00
R9694:Cep170b	UTSW	12	112,735,559 (GRCm38)	missense	probably damaging	1.00
R9778:Cep170b	UTSW	12	112,731,430 (GRCm38)	missense	possibly damaging	0.93
R9783:Cep170b	UTSW	12	112,744,684 (GRCm38)	missense	probably damaging	1.00
Z1176:Cep170b	UTSW	12	112,741,012 (GRCm38)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AATCCAAGTCCACCAGGAGG -3'
(R):5'- CCTCTCAGCATCAGGAAGGAAG -3'

Sequencing Primer
(F):5'- GGGCCCTGCATGTTCCTAC -3'
(R):5'- CATCAGGAAGGAAGGCAGGCTC -3'

Posted On

2019-10-24