Mutagenetix > Incidental Mutations

Incidental Mutation 'R5190:Cep44'

398052

Institutional Source

Beutler Lab

Gene Symbol

Cep44

Ensembl Gene

ENSMUSG00000038215

Gene Name

centrosomal protein 44

Synonyms

4933440G23Rik, BC088983

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.842) question?

Stock #

R5190 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56531522-56551047 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 56532796 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 354 (V354I)

Ref Sequence

ENSEMBL: ENSMUSP00000042586 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040330]

Predicted Effect

probably benign
Transcript: ENSMUST00000040330
AA Change: V354I

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000042586
Gene: ENSMUSG00000038215
AA Change: V354I

Domain	Start	End	E-Value	Type
Pfam:CEP44	5	131	2.5e-52	PFAM
coiled coil region	232	263	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000123493
AA Change: V312I

SMART Domains

Protein: ENSMUSP00000116884
Gene: ENSMUSG00000038215
AA Change: V312I

Domain	Start	End	E-Value	Type
Pfam:CEP44	1	73	3.3e-31	PFAM
coiled coil region	173	204	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210545

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211049

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
Abca7	T	C	10: 79,999,593		probably null	Het
Abca8a	C	T	11: 110,089,909		probably null	Het
Ablim3	A	G	18: 61,819,911	Y361H	probably benign	Het
Acan	C	T	7: 79,098,541	T1020I	probably benign	Het
Baat	A	G	4: 49,499,652	L218P	probably damaging	Het
Bcl11b	C	A	12: 107,989,716	C58F	probably damaging	Het
Cand2	G	T	6: 115,789,513	A360S	probably damaging	Het
Cdh2	A	G	18: 16,650,315	V62A	possibly damaging	Het
Col3a1	G	A	1: 45,329,084	R309Q	unknown	Het
Col3a1	G	A	1: 45,344,807		probably benign	Het
Coq5	A	G	5: 115,295,780		probably null	Het
Crtac1	A	G	19: 42,333,908	I131T	possibly damaging	Het
Decr1	C	T	4: 15,924,270	V217M	probably damaging	Het
Dnajc13	A	G	9: 104,174,525	V1706A	probably benign	Het
Dopey1	A	G	9: 86,487,304	I63M	probably damaging	Het
F830045P16Rik	T	C	2: 129,472,715	D214G	probably benign	Het
Fam216a	T	A	5: 122,367,521		probably null	Het
Fdxacb1	A	C	9: 50,772,087	H248P	possibly damaging	Het
Gnai1	A	T	5: 18,291,598	V109E	probably benign	Het
Helz2	A	T	2: 181,230,757		probably null	Het
Itgam	T	C	7: 128,116,317		probably null	Het
Kcnh1	A	G	1: 192,505,528	S766G	probably benign	Het
Klra1	C	A	6: 130,375,278	C167F	probably damaging	Het
Krtap9-3	T	A	11: 99,597,982	T25S	probably benign	Het
Mapk6	T	C	9: 75,388,344	Y624C	probably damaging	Het
Olfr1123	A	G	2: 87,418,843	Y263C	probably damaging	Het
Olfr1158	T	A	2: 87,990,763	Y217*	probably null	Het
Olfr1393	T	C	11: 49,280,382	V78A	probably damaging	Het
Olfr51	T	G	11: 51,007,554	I194S	probably damaging	Het
Olfr677	C	T	7: 105,056,453	S69L	probably damaging	Het
P3h2	A	G	16: 25,984,949	S356P	possibly damaging	Het
Pde12	C	T	14: 26,666,377		probably null	Het
Rln3	T	G	8: 84,043,237	K94N	probably damaging	Het
Skint5	T	C	4: 113,763,514	I668V	unknown	Het
Slitrk5	C	A	14: 111,679,420	Q159K	probably damaging	Het
Trim3	G	T	7: 105,619,509	N79K	probably damaging	Het
Tyw1	T	A	5: 130,267,915	C101*	probably null	Het
Ulk2	T	C	11: 61,781,711	T934A	probably benign	Het
Unc5b	T	C	10: 60,772,293	Y687C	probably benign	Het
Vmn1r195	C	T	13: 22,278,386	R9*	probably null	Het
Zfc3h1	T	G	10: 115,418,692	L1397R	probably damaging	Het
Zfp296	T	C	7: 19,577,407	V9A	probably benign	Het
Zfp423	T	A	8: 87,782,463	S397C	probably damaging	Het

Other mutations in Cep44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00545:Cep44	APN	8	56547400	missense	probably damaging	1.00
IGL02932:Cep44	APN	8	56547424	missense	probably damaging	1.00
R0347:Cep44	UTSW	8	56545475	missense	probably damaging	1.00
R0609:Cep44	UTSW	8	56544152	missense	possibly damaging	0.79
R0669:Cep44	UTSW	8	56540973	missense	possibly damaging	0.74
R1449:Cep44	UTSW	8	56540950	missense	probably benign	0.01
R1493:Cep44	UTSW	8	56532835	missense	probably damaging	1.00
R4114:Cep44	UTSW	8	56545422	missense	probably benign	0.25
R4422:Cep44	UTSW	8	56538617	missense	probably benign	0.00
R4423:Cep44	UTSW	8	56538617	missense	probably benign	0.00
R4425:Cep44	UTSW	8	56538617	missense	probably benign	0.00
R4621:Cep44	UTSW	8	56542916	missense	probably damaging	0.99
R5017:Cep44	UTSW	8	56544207	missense	possibly damaging	0.86
R5898:Cep44	UTSW	8	56541021	missense	probably damaging	1.00
R5938:Cep44	UTSW	8	56547422	missense	possibly damaging	0.93
R6080:Cep44	UTSW	8	56539841	missense	possibly damaging	0.50
R6150:Cep44	UTSW	8	56539805	missense	probably benign	0.39
R7016:Cep44	UTSW	8	56544199	missense	possibly damaging	0.89
R7141:Cep44	UTSW	8	56539851	missense	probably damaging	1.00
R7466:Cep44	UTSW	8	56540983	frame shift	probably null
R7753:Cep44	UTSW	8	56532807	missense	probably benign	0.16
R7841:Cep44	UTSW	8	56540983	frame shift	probably null
Z1176:Cep44	UTSW	8	56544128	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- AGACACACTGGGGAACACTG -3'
(R):5'- CGACCATTCCTACATGCTTAAAGTG -3'

Sequencing Primer
(F):5'- ACTGGGGAACACTGCCTAC -3'
(R):5'- GCTCCCTACGTGTGTGTAATTACAAG -3'

Posted On

2016-07-06