Mutagenetix > Incidental Mutation

Incidental Mutation 'R6662:Cfap45'

528001

Institutional Source

Beutler Lab

Gene Symbol

Cfap45

Ensembl Gene

ENSMUSG00000026546

Gene Name

cilia and flagella associated protein 45

Synonyms

1700028D05Rik, Nesg1, Ccdc19

MMRRC Submission

044782-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.690) question?

Stock #

R6662 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

172520801-172545870 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 172529850 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 15 (I15T)

Ref Sequence

ENSEMBL: ENSMUSP00000125225 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085894] [ENSMUST00000159395] [ENSMUST00000159792] [ENSMUST00000161140] [ENSMUST00000162988]

AlphaFold

Q9D9U9

Predicted Effect

probably benign
Transcript: ENSMUST00000085894
AA Change: I57T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000083057
Gene: ENSMUSG00000026546
AA Change: I57T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159395
AA Change: I28T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000125224
Gene: ENSMUSG00000026546
AA Change: I28T

Domain	Start	End	E-Value	Type
coiled coil region	128	162	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159792
AA Change: I28T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000124540
Gene: ENSMUSG00000026546
AA Change: I28T

Domain	Start	End	E-Value	Type
coiled coil region	128	162	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160531

Predicted Effect

probably benign
Transcript: ENSMUST00000161140
AA Change: I15T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000162988
AA Change: I28T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	G	19: 57,073,853		probably null	Het
Acox1	A	G	11: 116,175,323	Y418H	probably damaging	Het
Akr1b3	C	T	6: 34,310,004	V206M	possibly damaging	Het
Aldh3a1	G	A	11: 61,214,655	V196I	probably benign	Het
Aox3	A	G	1: 58,118,615	K44E	probably damaging	Het
Bad	T	A	19: 6,951,070		probably benign	Het
BC034090	G	T	1: 155,226,339	Q60K	possibly damaging	Het
Casp6	A	G	3: 129,912,226	T181A	probably benign	Het
Catsperg2	G	A	7: 29,719,513		probably benign	Het
Ccdc14	T	C	16: 34,690,794	L46P	probably damaging	Het
Ces1b	A	G	8: 93,064,069	L364S	probably benign	Het
D730048I06Rik	C	A	9: 35,790,000	R6M	possibly damaging	Het
Dph5	G	A	3: 115,928,556	E228K	probably benign	Het
Fat4	G	T	3: 38,956,821	L2023F	possibly damaging	Het
Garem1	T	C	18: 21,148,247	N351D	probably benign	Het
Gm14124	G	A	2: 150,266,252		probably null	Het
Grm2	C	T	9: 106,648,053	A488T	probably benign	Het
Ifit3b	A	G	19: 34,611,937	E171G	probably damaging	Het
Il1rn	A	T	2: 24,336,875		probably null	Het
Itih5	A	T	2: 10,249,181	I748F	probably benign	Het
Kcnh5	C	A	12: 75,007,611	D520Y	probably damaging	Het
Mgat5	C	A	1: 127,469,237	H574N	probably damaging	Het
Moxd1	A	C	10: 24,284,760	D437A	probably damaging	Het
Mybpc2	A	G	7: 44,506,166	F888L	probably benign	Het
Ncs1	T	A	2: 31,287,360	L183Q	probably damaging	Het
Neto2	A	T	8: 85,663,215	D206E	probably damaging	Het
Omp	A	G	7: 98,145,339	L27P	probably damaging	Het
Oxsm	A	G	14: 16,242,287	S161P	probably benign	Het
Pde4b	A	G	4: 102,601,898	I381M	possibly damaging	Het
Pramel5	A	T	4: 144,273,105	N137K	probably benign	Het
Prss33	T	C	17: 23,833,960	S247G	probably damaging	Het
Rassf9	T	A	10: 102,546,038	L425Q	possibly damaging	Het
Setx	A	T	2: 29,158,114	D1909V	probably damaging	Het
Slc26a3	A	T	12: 31,457,346	K402*	probably null	Het
Slco1a6	G	A	6: 142,133,215	T118I	probably damaging	Het
Syne1	A	G	10: 5,128,416	L6769P	probably damaging	Het
Tas2r107	A	T	6: 131,659,489	V199D	possibly damaging	Het
Tchp	A	G	5: 114,720,015		probably null	Het
Trdn	A	T	10: 33,474,487	N684I	probably damaging	Het
Trio	G	T	15: 27,854,996	T700K	probably benign	Het
Ttn	C	T	2: 76,755,898	V20084I	probably benign	Het
Ubl3	A	T	5: 148,509,306	Y62*	probably null	Het
Uckl1	A	G	2: 181,573,260	Y267H	possibly damaging	Het
Zfp786	T	C	6: 47,826,986	N41D	probably damaging	Het
Zfp983	T	C	17: 21,662,085	S310P	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
R5800:Cfap45	UTSW	1	172538600	missense	probably damaging	0.98
R6520:Cfap45	UTSW	1	172540584	missense	probably damaging	1.00
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'- CGAGGATGCTTCCCTAATACCG -3'
(R):5'- TCCAGTTTTGTGTACGTTAAGC -3'

Sequencing Primer
(F):5'- CGTAGGTGCTCTTGTGTTCTGTAG -3'
(R):5'- CCAGTTTTGTGTACGTTAAGCAAAAG -3'

Posted On

2018-07-24