Mutagenetix > Incidental Mutation

Incidental Mutation 'R5800:Cfap45'

447332

Institutional Source

Beutler Lab

Gene Symbol

Cfap45

Ensembl Gene

ENSMUSG00000026546

Gene Name

cilia and flagella associated protein 45

Synonyms

1700028D05Rik, Nesg1, Ccdc19

MMRRC Submission

043389-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.560) question?

Stock #

R5800 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

172520801-172545870 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 172538600 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 30 (V30E)

Ref Sequence

ENSEMBL: ENSMUSP00000124646 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085894] [ENSMUST00000160303]

AlphaFold

Q9D9U9

Predicted Effect

probably damaging
Transcript: ENSMUST00000085894
AA Change: V340E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083057
Gene: ENSMUSG00000026546
AA Change: V340E

Domain	Start	End	E-Value	Type
low complexity region	8	29	N/A	INTRINSIC
Pfam:TPH	187	532	1.5e-85	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132370

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140307

Predicted Effect

probably damaging
Transcript: ENSMUST00000160303
AA Change: V30E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124646
Gene: ENSMUSG00000026546
AA Change: V30E

Domain	Start	End	E-Value	Type
Pfam:Trichoplein	1	64	1.9e-12	PFAM

Meta Mutation Damage Score

0.0875

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	G	A	17: 23,717,992	P72S	probably damaging	Het
4932438A13Rik	A	G	3: 37,052,443	D4974G	probably damaging	Het
Abca12	A	T	1: 71,321,432	V540D	possibly damaging	Het
Adamts8	A	T	9: 30,954,482	D442V	probably damaging	Het
Casp4	G	A	9: 5,308,915		probably null	Het
Col6a4	A	G	9: 106,080,275	F117L	probably damaging	Het
Dnah7c	A	T	1: 46,647,015	T1810S	probably benign	Het
Drosha	C	T	15: 12,865,067	T627M	probably damaging	Het
Drosha	C	A	15: 12,902,647	A1001D	probably damaging	Het
Efhc1	G	A	1: 20,978,781	V473I	probably benign	Het
Ephx2	T	C	14: 66,107,302	K191R	probably benign	Het
Ero1lb	T	A	13: 12,602,301		probably null	Het
Esyt2	A	T	12: 116,370,188	D837V	possibly damaging	Het
Fip1l1	T	A	5: 74,546,081	D126E	possibly damaging	Het
Fyttd1	C	T	16: 32,891,288	R86C	probably damaging	Het
Gm12888	T	A	4: 121,319,428	T59S	probably damaging	Het
Gm34653	T	C	2: 34,838,642	F151S	possibly damaging	Het
Gm7353	A	T	7: 3,110,168		noncoding transcript	Het
Gpr153	C	T	4: 152,280,077	Q197*	probably null	Het
H2-T23	G	T	17: 36,031,604		probably benign	Het
Ighv1-16	T	A	12: 114,665,911	R85S	probably benign	Het
Ipcef1	T	A	10: 6,890,569	D376V	probably damaging	Het
Kdm1a	T	A	4: 136,573,070		probably null	Het
Klk1b27	A	T	7: 44,055,664	Q85L	probably benign	Het
Krt39	A	T	11: 99,521,145	D38E	probably benign	Het
L1td1	T	C	4: 98,733,762	L187P	possibly damaging	Het
Lrrc8b	C	T	5: 105,481,342	S518L	probably benign	Het
Lyg1	C	T	1: 37,946,953	D176N	probably damaging	Het
Mctp1	A	G	13: 76,688,559	N82D	probably damaging	Het
Muc6	T	C	7: 141,640,423		probably benign	Het
Nynrin	T	C	14: 55,870,631	L1065P	probably damaging	Het
Olfr1474	T	C	19: 13,471,896	S309P	probably benign	Het
Pcdh7	T	A	5: 57,722,225	S1041T	probably damaging	Het
Pkd1l1	T	A	11: 8,861,302	M1518L	probably benign	Het
Prl8a6	G	T	13: 27,435,470	Q90K	probably benign	Het
Ptcd1	T	A	5: 145,159,665	D206V	probably damaging	Het
Rap1gap	C	A	4: 137,720,377	D478E	probably benign	Het
Scn5a	A	G	9: 119,501,666	Y1269H	probably damaging	Het
Sdc2	A	T	15: 33,028,144	H136L	probably benign	Het
Senp6	A	T	9: 80,126,433	I120F	probably damaging	Het
Shisa5	G	A	9: 109,056,094		probably null	Het
Slc19a1	A	G	10: 77,042,269	S213G	probably null	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261		probably benign	Het
Tbc1d20	T	A	2: 152,308,325		probably null	Het
Tll2	T	C	19: 41,104,934	H481R	probably benign	Het
Tmc7	A	G	7: 118,539,440	V692A	probably benign	Het
Tmem234	T	C	4: 129,607,131		probably null	Het
Vmn1r237	C	G	17: 21,314,807	T264S	probably benign	Het
Vmn2r98	A	T	17: 19,065,998	T253S	probably benign	Het
Zfyve27	T	C	19: 42,182,663	Y191H	probably damaging	Het

Other mutations in Cfap45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Cfap45	APN	1	172535345	unclassified	probably benign
IGL01936:Cfap45	APN	1	172534049	missense	probably damaging	1.00
IGL03235:Cfap45	APN	1	172538493	missense	possibly damaging	0.55
R0194:Cfap45	UTSW	1	172541327	missense	probably benign	0.05
R0883:Cfap45	UTSW	1	172532189	missense	possibly damaging	0.90
R1130:Cfap45	UTSW	1	172545697	missense	probably damaging	1.00
R1168:Cfap45	UTSW	1	172545697	missense	probably damaging	1.00
R1356:Cfap45	UTSW	1	172527863	missense	possibly damaging	0.53
R1522:Cfap45	UTSW	1	172540572	missense	probably damaging	1.00
R1921:Cfap45	UTSW	1	172545112	missense	probably damaging	1.00
R1922:Cfap45	UTSW	1	172545112	missense	probably damaging	1.00
R2203:Cfap45	UTSW	1	172532161	missense	probably benign	0.28
R2204:Cfap45	UTSW	1	172532161	missense	probably benign	0.28
R2205:Cfap45	UTSW	1	172532161	missense	probably benign	0.28
R3156:Cfap45	UTSW	1	172545724	missense	possibly damaging	0.93
R4059:Cfap45	UTSW	1	172538489	missense	probably benign	0.00
R4151:Cfap45	UTSW	1	172532221	missense	probably damaging	0.98
R4445:Cfap45	UTSW	1	172535227	missense	probably benign	0.07
R4548:Cfap45	UTSW	1	172545108	missense	probably benign	0.00
R4582:Cfap45	UTSW	1	172529912	missense	probably benign	0.42
R4909:Cfap45	UTSW	1	172529876	missense	probably benign	0.14
R5200:Cfap45	UTSW	1	172545129	nonsense	probably null
R6520:Cfap45	UTSW	1	172540584	missense	probably damaging	1.00
R6662:Cfap45	UTSW	1	172529850	missense	probably benign	0.01
R7378:Cfap45	UTSW	1	172538343	splice site	probably null
R7390:Cfap45	UTSW	1	172541358	missense	probably benign	0.00
R7468:Cfap45	UTSW	1	172535310	nonsense	probably null
R7545:Cfap45	UTSW	1	172538596	missense	probably benign
R7988:Cfap45	UTSW	1	172529934	missense	probably damaging	1.00
R8212:Cfap45	UTSW	1	172541500	splice site	probably null
R8272:Cfap45	UTSW	1	172527839	missense	possibly damaging	0.53
R8939:Cfap45	UTSW	1	172545267	missense	probably damaging	1.00
R9461:Cfap45	UTSW	1	172535327	missense	possibly damaging	0.92
Z1176:Cfap45	UTSW	1	172545284	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGCATGTCAGTAGCTATATGCC -3'
(R):5'- GGGGCGGTGTCTCTAAAATC -3'

Sequencing Primer
(F):5'- ATGTCAGTAGCTATATGCCTTGCC -3'
(R):5'- GGGCGGTGTCTCTAAAATCTATACTC -3'

Posted On

2016-12-15