Mutagenetix > Incidental Mutation

Incidental Mutation 'R9643:Cep170b'

726679

Institutional Source

Beutler Lab

Gene Symbol

Cep170b

Ensembl Gene

ENSMUSG00000072825

Gene Name

centrosomal protein 170B

Synonyms

AW555464

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.601) question?

Stock #

R9643 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112687950-112713026 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 112704045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 659 (W659L)

Ref Sequence

ENSEMBL: ENSMUSP00000098580 (fasta)

Gene Model

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

AlphaFold

Q80U49

Predicted Effect

probably benign
Transcript: ENSMUST00000092279

SMART Domains

Protein: ENSMUSP00000089930
Gene: ENSMUSG00000072825

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: W659L

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

SMART Domains

Protein: ENSMUSP00000098580
Gene: ENSMUSG00000072825
AA Change: W659L

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: W659L

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

SMART Domains

Protein: ENSMUSP00000137331
Gene: ENSMUSG00000072825
AA Change: W659L

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: W659L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222711
AA Change: W659L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,211,189 (GRCm39)	D641G	possibly damaging	Het
4921539E11Rik	T	C	4: 103,092,666 (GRCm39)	E272G	unknown	Het
Abca16	C	T	7: 120,065,023 (GRCm39)	T560I	possibly damaging	Het
Adcy3	A	G	12: 4,259,455 (GRCm39)	R911G	probably damaging	Het
Adgra2	A	G	8: 27,612,031 (GRCm39)	T1327A	possibly damaging	Het
Aldh9a1	T	C	1: 167,184,904 (GRCm39)	V272A	possibly damaging	Het
Ankfn1	T	A	11: 89,396,167 (GRCm39)	H193L	probably benign	Het
Asb1	A	G	1: 91,480,116 (GRCm39)	R280G	probably benign	Het
Atg14	G	T	14: 47,788,780 (GRCm39)	A191E	probably damaging	Het
Bcl9	G	T	3: 97,112,960 (GRCm39)	P1165Q	possibly damaging	Het
Cdk8	G	A	5: 146,235,664 (GRCm39)	A264T	probably damaging	Het
Cep152	G	A	2: 125,406,150 (GRCm39)	Q1461*	probably null	Het
Cep57l1	T	C	10: 41,597,626 (GRCm39)	E335G	probably damaging	Het
Cpt1b	T	A	15: 89,303,229 (GRCm39)	T609S	possibly damaging	Het
Cyp2c50	A	T	19: 40,086,512 (GRCm39)	I359F	probably damaging	Het
Dpf1	T	A	7: 29,013,742 (GRCm39)	N272K	probably damaging	Het
Fsip2	A	G	2: 82,821,984 (GRCm39)	T5906A	possibly damaging	Het
Gin1	A	T	1: 97,712,498 (GRCm39)	R220S	probably benign	Het
Gm30083	T	C	14: 33,736,861 (GRCm39)	Y32C	probably benign	Het
Gm45861	A	G	8: 27,994,083 (GRCm39)	E445G	unknown	Het
Golga2	T	C	2: 32,193,874 (GRCm39)	S567P	probably damaging	Het
Gpr89	A	G	3: 96,780,813 (GRCm39)	V353A	probably damaging	Het
Grin2d	T	C	7: 45,506,948 (GRCm39)	K509R	possibly damaging	Het
Hip1r	T	C	5: 124,139,319 (GRCm39)	I904T	probably damaging	Het
Ikbke	T	A	1: 131,187,022 (GRCm39)		probably null	Het
Il1r1	T	A	1: 40,341,532 (GRCm39)	C315S	probably damaging	Het
Ireb2	T	A	9: 54,789,730 (GRCm39)	F135I	possibly damaging	Het
Jakmip3	C	T	7: 138,621,915 (GRCm39)	L272F	probably damaging	Het
Kntc1	T	A	5: 123,949,440 (GRCm39)	F1937Y	probably damaging	Het
Krtap4-16	G	A	11: 99,742,271 (GRCm39)	T43I	unknown	Het
Lats2	A	G	14: 57,936,875 (GRCm39)	V538A	possibly damaging	Het
Megf8	T	A	7: 25,046,907 (GRCm39)	W1597R	probably damaging	Het
Mideas	A	T	12: 84,219,885 (GRCm39)	D356E	probably benign	Het
Mtus2	A	T	5: 148,014,025 (GRCm39)	T273S	probably benign	Het
Nsun6	T	A	2: 15,047,106 (GRCm39)	E81D	probably benign	Het
Or13c7	G	A	4: 43,855,183 (GRCm39)	M291I	probably benign	Het
Or4c125	A	T	2: 89,170,517 (GRCm39)	I43K	probably damaging	Het
Or56a41	A	G	7: 104,740,445 (GRCm39)	F134L	probably benign	Het
Or8c10	A	G	9: 38,278,912 (GRCm39)	I13M	probably damaging	Het
Or8k23	A	G	2: 86,186,408 (GRCm39)	F106S	probably benign	Het
Oxsm	T	C	14: 16,241,000 (GRCm38)	T350A	probably damaging	Het
Pard3	G	A	8: 128,115,900 (GRCm39)	R663Q	possibly damaging	Het
Pcdh15	T	A	10: 74,479,335 (GRCm39)	I482N	probably benign	Het
Pcsk2	G	A	2: 143,655,501 (GRCm39)	D562N	probably damaging	Het
Pdzk1ip1	T	C	4: 114,950,177 (GRCm39)	M146T	probably benign	Het
Plch1	T	A	3: 63,660,747 (GRCm39)	T279S		Het
Plec	C	T	15: 76,058,177 (GRCm39)	R3920Q	probably damaging	Het
Polr2g	A	T	19: 8,774,631 (GRCm39)	V84E	probably damaging	Het
Ppm1m	C	T	9: 106,075,104 (GRCm39)	R147H	probably damaging	Het
Ppp2r2c	G	T	5: 37,080,383 (GRCm39)	V48L	probably damaging	Het
Pramel25	T	A	4: 143,521,855 (GRCm39)	C490*	probably null	Het
Prcp	A	T	7: 92,524,598 (GRCm39)	T18S	probably benign	Het
Rapsn	A	G	2: 90,872,268 (GRCm39)	S201G	probably damaging	Het
Rragd	A	G	4: 33,012,998 (GRCm39)	T332A	probably benign	Het
Scrn2	A	G	11: 96,921,342 (GRCm39)	D34G	probably damaging	Het
Serpinb6c	T	C	13: 34,079,303 (GRCm39)	T130A	probably benign	Het
Setd1b	G	A	5: 123,298,401 (GRCm39)	G1479D	probably damaging	Het
Shd	T	A	17: 56,283,268 (GRCm39)	L299Q	probably damaging	Het
Slc5a4b	C	T	10: 75,945,896 (GRCm39)	V55I	probably benign	Het
Smg1	C	A	7: 117,755,933 (GRCm39)	R2405L	unknown	Het
Stxbp2	A	T	8: 3,686,392 (GRCm39)	M332L		Het
Tedc2	A	G	17: 24,435,328 (GRCm39)	C354R	probably benign	Het
Tek	A	T	4: 94,692,523 (GRCm39)	R210S	possibly damaging	Het
Tnk2	T	A	16: 32,489,018 (GRCm39)	M286K	probably damaging	Het
Ttc21a	G	A	9: 119,771,686 (GRCm39)	V162I	probably benign	Het
Usf3	T	A	16: 44,042,170 (GRCm39)	C2217S	possibly damaging	Het
Wdr72	C	T	9: 74,118,041 (GRCm39)	P930S	probably damaging	Het
Zan	A	G	5: 137,456,812 (GRCm39)	V1308A	unknown	Het
Zfp521	C	T	18: 13,978,922 (GRCm39)	R497Q	probably damaging	Het
Zfp799	T	A	17: 33,039,435 (GRCm39)	K277M	probably damaging	Het
Zfp949	C	T	9: 88,436,500 (GRCm39)		probably benign	Het

Other mutations in Cep170b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Cep170b	APN	12	112,701,628 (GRCm39)	missense	probably damaging	1.00
IGL01313:Cep170b	APN	12	112,702,086 (GRCm39)	missense	probably damaging	1.00
IGL01317:Cep170b	APN	12	112,704,078 (GRCm39)	missense	probably damaging	1.00
IGL01660:Cep170b	APN	12	112,710,594 (GRCm39)	missense	probably damaging	1.00
IGL02032:Cep170b	APN	12	112,703,767 (GRCm39)	critical splice donor site	probably null
IGL02505:Cep170b	APN	12	112,709,504 (GRCm39)	missense	probably damaging	1.00
IGL02966:Cep170b	APN	12	112,702,878 (GRCm39)	missense	possibly damaging	0.75
IGL03111:Cep170b	APN	12	112,701,613 (GRCm39)	missense	probably damaging	1.00
IGL03367:Cep170b	APN	12	112,703,672 (GRCm39)	missense	probably benign	0.00
R0348:Cep170b	UTSW	12	112,703,240 (GRCm39)	missense	probably damaging	1.00
R0562:Cep170b	UTSW	12	112,705,623 (GRCm39)	missense	probably benign	0.00
R0909:Cep170b	UTSW	12	112,698,473 (GRCm39)	missense	probably null	0.06
R1217:Cep170b	UTSW	12	112,707,339 (GRCm39)	missense	probably damaging	0.99
R1300:Cep170b	UTSW	12	112,703,691 (GRCm39)	missense	probably benign	0.02
R1647:Cep170b	UTSW	12	112,702,806 (GRCm39)	missense	probably damaging	1.00
R1648:Cep170b	UTSW	12	112,702,806 (GRCm39)	missense	probably damaging	1.00
R1652:Cep170b	UTSW	12	112,699,947 (GRCm39)	missense	probably damaging	0.99
R1737:Cep170b	UTSW	12	112,703,061 (GRCm39)	missense	possibly damaging	0.71
R1936:Cep170b	UTSW	12	112,702,172 (GRCm39)	missense	probably damaging	1.00
R1962:Cep170b	UTSW	12	112,704,495 (GRCm39)	missense	probably damaging	1.00
R2094:Cep170b	UTSW	12	112,702,164 (GRCm39)	missense	possibly damaging	0.90
R2208:Cep170b	UTSW	12	112,705,419 (GRCm39)	missense	probably benign	0.00
R3418:Cep170b	UTSW	12	112,704,902 (GRCm39)	nonsense	probably null
R3735:Cep170b	UTSW	12	112,707,438 (GRCm39)	missense	probably damaging	1.00
R3736:Cep170b	UTSW	12	112,707,438 (GRCm39)	missense	probably damaging	1.00
R4299:Cep170b	UTSW	12	112,705,739 (GRCm39)	missense	probably damaging	1.00
R4577:Cep170b	UTSW	12	112,711,152 (GRCm39)	missense	probably damaging	1.00
R5199:Cep170b	UTSW	12	112,710,581 (GRCm39)	missense	probably damaging	1.00
R5512:Cep170b	UTSW	12	112,699,919 (GRCm39)	missense	possibly damaging	0.86
R5575:Cep170b	UTSW	12	112,702,066 (GRCm39)	missense	probably damaging	1.00
R5643:Cep170b	UTSW	12	112,707,275 (GRCm39)	missense	probably benign	0.35
R6074:Cep170b	UTSW	12	112,710,589 (GRCm39)	missense	probably damaging	1.00
R6265:Cep170b	UTSW	12	112,710,993 (GRCm39)	missense	probably damaging	1.00
R6371:Cep170b	UTSW	12	112,707,379 (GRCm39)	missense	probably damaging	1.00
R6376:Cep170b	UTSW	12	112,698,502 (GRCm39)	missense	probably damaging	0.99
R7055:Cep170b	UTSW	12	112,702,149 (GRCm39)	missense	probably damaging	1.00
R7137:Cep170b	UTSW	12	112,701,601 (GRCm39)	missense	probably benign
R7226:Cep170b	UTSW	12	112,704,359 (GRCm39)	missense	possibly damaging	0.80
R7615:Cep170b	UTSW	12	112,711,099 (GRCm39)	missense	probably damaging	1.00
R7831:Cep170b	UTSW	12	112,711,234 (GRCm39)	missense	probably benign	0.08
R8178:Cep170b	UTSW	12	112,705,719 (GRCm39)	missense	possibly damaging	0.92
R8492:Cep170b	UTSW	12	112,711,134 (GRCm39)	missense	probably damaging	1.00
R8838:Cep170b	UTSW	12	112,710,159 (GRCm39)	missense	probably damaging	1.00
R8859:Cep170b	UTSW	12	112,702,881 (GRCm39)	missense	probably benign
R9573:Cep170b	UTSW	12	112,691,154 (GRCm39)	missense	probably damaging	1.00
R9694:Cep170b	UTSW	12	112,701,993 (GRCm39)	missense	probably damaging	1.00
R9778:Cep170b	UTSW	12	112,697,864 (GRCm39)	missense	possibly damaging	0.93
R9783:Cep170b	UTSW	12	112,711,118 (GRCm39)	missense	probably damaging	1.00
Z1176:Cep170b	UTSW	12	112,707,446 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTGATACACTGATGGAGCTGGC -3'
(R):5'- TTCTACATGCACACAGGGCC -3'

Sequencing Primer
(F):5'- TGGTGACATTGGGGTCCCAC -3'
(R):5'- GCCCCAACCCTGTCCCAG -3'

Posted On

2022-10-06