Mutagenetix > Incidental Mutation

Incidental Mutation 'R0675:Cfap46'

61611

Institutional Source

Beutler Lab

Gene Symbol

Cfap46

Ensembl Gene

ENSMUSG00000049571

Gene Name

cilia and flagella associated protein 46

Synonyms

9330101J02Rik

MMRRC Submission

038860-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0675 (G1)

Quality Score

138

Status

Validated

Chromosome

Chromosomal Location

139600951-139683817 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 139676034 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 300 (C300Y)

Ref Sequence

ENSEMBL: ENSMUSP00000120186 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000129990] [ENSMUST00000130453] [ENSMUST00000140820]

AlphaFold

E9Q2C0

Predicted Effect

probably damaging
Transcript: ENSMUST00000129990
AA Change: C300Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000120186
Gene: ENSMUSG00000049571
AA Change: C300Y

Domain	Start	End	E-Value	Type
Blast:TPR	175	207	7e-11	BLAST
Blast:TPR	426	459	1e-11	BLAST
low complexity region	868	879	N/A	INTRINSIC
Blast:TPR	936	969	2e-7	BLAST
Blast:TPR	1112	1145	1e-9	BLAST
coiled coil region	1347	1423	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000130453
AA Change: C204Y

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115437
Gene: ENSMUSG00000049571
AA Change: C204Y

Domain	Start	End	E-Value	Type
Blast:TPR	116	149	1e-11	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138129

Predicted Effect

probably damaging
Transcript: ENSMUST00000140820
AA Change: C300Y

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121085
Gene: ENSMUSG00000049571
AA Change: C300Y

Domain	Start	End	E-Value	Type
Blast:TPR	175	208	5e-11	BLAST
Blast:TPR	426	459	8e-12	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156116

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

97% (88/91)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C19Rik	T	C	17: 47,413,776	E140G	probably benign	Het
4932431P20Rik	T	C	7: 29,532,517		noncoding transcript	Het
Ablim2	C	T	5: 35,866,780		probably benign	Het
Aire	T	C	10: 78,034,493		probably benign	Het
Akap12	T	C	10: 4,353,315	S42P	probably benign	Het
Amigo1	T	C	3: 108,191,669		probably benign	Het
Angptl3	A	G	4: 99,033,262	T206A	probably benign	Het
Ank1	T	A	8: 23,110,384		probably benign	Het
Ano5	A	T	7: 51,574,810	T472S	probably damaging	Het
Arid3c	T	C	4: 41,725,958	D215G	probably damaging	Het
Cd200	T	C	16: 45,397,110	I73V	probably benign	Het
Cd47	T	C	16: 49,906,799	I318T	possibly damaging	Het
Cep290	A	G	10: 100,568,813		probably null	Het
Cep350	A	G	1: 155,959,753	S66P	possibly damaging	Het
Chd1	T	A	17: 15,758,261		probably benign	Het
Chd5	C	A	4: 152,385,950	T1913K	probably benign	Het
Clec4b1	A	G	6: 123,071,446	Y180C	probably damaging	Het
Cntnap5c	A	T	17: 58,034,995	D227V	probably damaging	Het
Col19a1	C	G	1: 24,575,455		probably benign	Het
Csmd1	A	T	8: 16,158,131	M1270K	probably benign	Het
Cyp2c66	T	A	19: 39,186,616	F487I	possibly damaging	Het
Dpp8	T	C	9: 65,066,502		probably benign	Het
Duoxa1	A	T	2: 122,306,380		probably benign	Het
Edil3	A	G	13: 89,177,280	K263E	probably damaging	Het
Fat2	A	G	11: 55,309,209	L1013P	probably damaging	Het
Fras1	T	C	5: 96,667,387		probably benign	Het
Gab1	A	G	8: 80,769,668	S668P	probably damaging	Het
Galnt14	T	C	17: 73,545,035	T130A	probably damaging	Het
Gm10192	G	A	4: 97,182,872	H99Y	unknown	Het
Gm5592	A	G	7: 41,289,387	T698A	possibly damaging	Het
Gm6605	C	A	7: 38,448,275		noncoding transcript	Het
Gsdma3	A	G	11: 98,631,191	K149R	probably benign	Het
Igkv4-71	A	G	6: 69,243,427	S29P	probably damaging	Het
Igsf10	C	T	3: 59,328,594	V1389I	probably benign	Het
Ik	T	C	18: 36,747,333		probably benign	Het
Ino80	G	A	2: 119,383,481	P1203S	probably damaging	Het
Iqsec2	G	A	X: 152,204,124	E398K	possibly damaging	Het
Jmjd6	A	G	11: 116,840,527	V232A	probably damaging	Het
Klhdc9	G	A	1: 171,360,327	T112M	possibly damaging	Het
Marcks	A	G	10: 37,141,185		probably benign	Het
Mctp2	T	A	7: 72,083,170	T829S	probably damaging	Het
Mroh2a	C	A	1: 88,228,380	A78E	probably damaging	Het
Mroh2a	G	A	1: 88,250,342	D1053N	probably damaging	Het
Mtmr14	A	T	6: 113,270,647	H518L	probably damaging	Het
Mum1	T	A	10: 80,230,080	V56E	probably damaging	Het
Myo5c	T	C	9: 75,278,289	M978T	probably benign	Het
Nlrc3	T	C	16: 3,948,911	I1015V	probably benign	Het
Nlrp5	C	A	7: 23,417,417	Q189K	possibly damaging	Het
Olfr1082	T	C	2: 86,594,079	I250V	probably benign	Het
Olfr385	A	C	11: 73,589,252	L162R	probably damaging	Het
Olfr583	A	G	7: 103,051,702	I135V	probably benign	Het
Olfr92	G	C	17: 37,111,455	L176V	probably benign	Het
Otof	T	A	5: 30,382,361	Y1051F	probably benign	Het
Pcdhb14	C	A	18: 37,448,339	T166K	possibly damaging	Het
Pla2g4e	A	G	2: 120,200,198		probably benign	Het
Polr3gl	T	C	3: 96,582,155	E20G	probably damaging	Het
Psmd1	A	G	1: 86,082,039	D295G	probably benign	Het
Ptpn21	C	A	12: 98,688,216	A831S	probably benign	Het
Rd3l	T	C	12: 111,980,162	D60G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rnf213	A	G	11: 119,441,834	D2624G	probably benign	Het
Sec31a	T	C	5: 100,393,207	D347G	probably damaging	Het
Sema4g	G	A	19: 44,997,587	R289H	probably damaging	Het
Sema5b	C	T	16: 35,660,333	T761I	probably benign	Het
Sept1	A	T	7: 127,216,999	F86L	probably damaging	Het
Shank3	T	C	15: 89,531,388	V627A	possibly damaging	Het
Slc25a46	C	A	18: 31,609,588	G75V	probably benign	Het
Slc45a2	T	A	15: 11,025,778	Y405N	probably damaging	Het
Spidr	T	C	16: 16,037,634	E339G	probably damaging	Het
Sptbn1	A	T	11: 30,117,903	H1770Q	probably damaging	Het
Srgap1	T	C	10: 121,792,235	Y944C	probably damaging	Het
Supt20	C	T	3: 54,706,969	T169I	probably damaging	Het
Tie1	G	A	4: 118,479,769	Q587*	probably null	Het
Tmem214	A	G	5: 30,871,825	T203A	possibly damaging	Het
Tmprss15	C	A	16: 78,985,950	S742I	probably damaging	Het
Zfhx2	A	G	14: 55,063,163	V2377A	probably damaging	Het
Zfp763	G	A	17: 33,019,800	H124Y	possibly damaging	Het
Zfp846	T	C	9: 20,593,557	S238P	probably benign	Het

Other mutations in Cfap46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00480:Cfap46	APN	7	139660689	missense	probably damaging	0.96
IGL00493:Cfap46	APN	7	139614443	missense	probably benign	0.06
IGL00505:Cfap46	APN	7	139660689	missense	probably damaging	0.96
IGL00508:Cfap46	APN	7	139660689	missense	probably damaging	0.96
IGL00514:Cfap46	APN	7	139660689	missense	probably damaging	0.96
IGL01394:Cfap46	APN	7	139666979	missense	probably damaging	1.00
IGL01621:Cfap46	APN	7	139606607	missense	unknown
IGL02171:Cfap46	APN	7	139667056	missense	possibly damaging	0.86
IGL02343:Cfap46	APN	7	139682509	missense	probably damaging	0.99
IGL02679:Cfap46	APN	7	139614470	missense	probably damaging	0.99
IGL02687:Cfap46	APN	7	139607201	missense	probably damaging	0.99
IGL03180:Cfap46	APN	7	139603252	missense	unknown
IGL03329:Cfap46	APN	7	139601165	missense	probably damaging	0.99
FR4449:Cfap46	UTSW	7	139638795	utr 3 prime	probably benign
FR4737:Cfap46	UTSW	7	139638930	utr 3 prime	probably benign
FR4976:Cfap46	UTSW	7	139638930	utr 3 prime	probably benign
PIT4651001:Cfap46	UTSW	7	139645551	missense
R0051:Cfap46	UTSW	7	139676035	missense	probably damaging	1.00
R0051:Cfap46	UTSW	7	139676035	missense	probably damaging	1.00
R0318:Cfap46	UTSW	7	139654566	missense	probably damaging	1.00
R0358:Cfap46	UTSW	7	139651533	splice site	probably benign
R0650:Cfap46	UTSW	7	139605655	missense	unknown
R0750:Cfap46	UTSW	7	139654670	missense	probably damaging	1.00
R0931:Cfap46	UTSW	7	139655841	missense	probably damaging	1.00
R1024:Cfap46	UTSW	7	139642597	missense	probably benign	0.42
R1251:Cfap46	UTSW	7	139601265	missense	probably benign	0.40
R1257:Cfap46	UTSW	7	139654629	nonsense	probably null
R1538:Cfap46	UTSW	7	139683008	missense	probably null	1.00
R1618:Cfap46	UTSW	7	139652810	missense	probably benign	0.04
R1655:Cfap46	UTSW	7	139642520	nonsense	probably null
R1824:Cfap46	UTSW	7	139639602	missense	probably benign	0.12
R1830:Cfap46	UTSW	7	139640407	missense	possibly damaging	0.92
R1857:Cfap46	UTSW	7	139653408	missense	probably damaging	1.00
R1870:Cfap46	UTSW	7	139683470	missense	probably damaging	1.00
R1945:Cfap46	UTSW	7	139679903	missense	probably damaging	1.00
R1962:Cfap46	UTSW	7	139667041	missense	probably damaging	1.00
R2108:Cfap46	UTSW	7	139683761	missense	probably benign	0.03
R2354:Cfap46	UTSW	7	139661046	missense	probably damaging	0.99
R2367:Cfap46	UTSW	7	139653498	missense	probably damaging	0.99
R3237:Cfap46	UTSW	7	139617590	missense	probably damaging	1.00
R3617:Cfap46	UTSW	7	139639599	missense	probably benign	0.06
R3949:Cfap46	UTSW	7	139678551	missense	probably benign	0.12
R4239:Cfap46	UTSW	7	139666287	missense	possibly damaging	0.74
R4240:Cfap46	UTSW	7	139666287	missense	possibly damaging	0.74
R4297:Cfap46	UTSW	7	139652673	missense	probably benign	0.27
R4365:Cfap46	UTSW	7	139650952	missense	probably damaging	0.99
R4516:Cfap46	UTSW	7	139660082	intron	probably benign
R4595:Cfap46	UTSW	7	139652404	missense	possibly damaging	0.74
R4627:Cfap46	UTSW	7	139657281	missense	probably damaging	0.99
R4627:Cfap46	UTSW	7	139680927	missense	probably damaging	1.00
R4628:Cfap46	UTSW	7	139680927	missense	probably damaging	1.00
R4629:Cfap46	UTSW	7	139680927	missense	probably damaging	1.00
R4687:Cfap46	UTSW	7	139627456	missense	possibly damaging	0.79
R4750:Cfap46	UTSW	7	139679323	critical splice donor site	probably null
R4771:Cfap46	UTSW	7	139630608	missense	probably null
R4779:Cfap46	UTSW	7	139659815	intron	probably benign
R4812:Cfap46	UTSW	7	139636000	missense	probably damaging	1.00
R4974:Cfap46	UTSW	7	139607188	critical splice donor site	probably null
R5014:Cfap46	UTSW	7	139627375	missense	probably benign	0.12
R5033:Cfap46	UTSW	7	139603860	missense	probably benign	0.00
R5055:Cfap46	UTSW	7	139661190	missense	probably damaging	1.00
R5254:Cfap46	UTSW	7	139678514	missense	possibly damaging	0.77
R5288:Cfap46	UTSW	7	139613507	critical splice donor site	probably null
R5366:Cfap46	UTSW	7	139650886	missense	probably damaging	1.00
R5368:Cfap46	UTSW	7	139627473	missense	possibly damaging	0.77
R5371:Cfap46	UTSW	7	139632181	splice site	probably null
R5642:Cfap46	UTSW	7	139678577	missense	probably damaging	1.00
R5690:Cfap46	UTSW	7	139638353	missense	probably benign	0.01
R5691:Cfap46	UTSW	7	139606700	missense	possibly damaging	0.49
R5696:Cfap46	UTSW	7	139612031	missense	probably damaging	1.00
R5844:Cfap46	UTSW	7	139650942	missense	probably damaging	0.99
R5963:Cfap46	UTSW	7	139651595	missense	probably damaging	0.97
R6217:Cfap46	UTSW	7	139638900	utr 3 prime	probably benign
R6228:Cfap46	UTSW	7	139656580	missense	probably damaging	1.00
R6251:Cfap46	UTSW	7	139638900	utr 3 prime	probably benign
R6253:Cfap46	UTSW	7	139638900	utr 3 prime	probably benign
R6285:Cfap46	UTSW	7	139661085	missense	probably damaging	1.00
R6334:Cfap46	UTSW	7	139680831	missense	probably damaging	1.00
R6520:Cfap46	UTSW	7	139614405	critical splice donor site	probably null
R6736:Cfap46	UTSW	7	139619971	missense	possibly damaging	0.92
R6760:Cfap46	UTSW	7	139652440	missense	probably damaging	1.00
R6773:Cfap46	UTSW	7	139642561	utr 3 prime	probably benign
R6835:Cfap46	UTSW	7	139652498	missense	probably damaging	0.98
R6903:Cfap46	UTSW	7	139654561	critical splice donor site	probably null
R6912:Cfap46	UTSW	7	139639700	missense	probably benign	0.09
R7163:Cfap46	UTSW	7	139618078	critical splice donor site	probably null
R7232:Cfap46	UTSW	7	139617577	missense	unknown
R7327:Cfap46	UTSW	7	139635146	splice site	probably null
R7336:Cfap46	UTSW	7	139620104	missense	unknown
R7337:Cfap46	UTSW	7	139630576	critical splice donor site	probably null
R7437:Cfap46	UTSW	7	139650837	nonsense	probably null
R7450:Cfap46	UTSW	7	139617437	missense	unknown
R7495:Cfap46	UTSW	7	139603196	critical splice donor site	probably null
R7618:Cfap46	UTSW	7	139603239	missense
R7623:Cfap46	UTSW	7	139618350	missense	unknown
R7765:Cfap46	UTSW	7	139651564	missense
R7971:Cfap46	UTSW	7	139635127	missense	unknown
R8211:Cfap46	UTSW	7	139633304	missense	unknown
R8306:Cfap46	UTSW	7	139656580	missense
R8354:Cfap46	UTSW	7	139653498	missense	probably benign	0.03
R8365:Cfap46	UTSW	7	139683084	nonsense	probably null
R8447:Cfap46	UTSW	7	139680986	missense	possibly damaging	0.90
R8715:Cfap46	UTSW	7	139605644	missense
R8805:Cfap46	UTSW	7	139632063	missense	unknown
R8830:Cfap46	UTSW	7	139615649	missense	unknown
R8912:Cfap46	UTSW	7	139680181	intron	probably benign
R8920:Cfap46	UTSW	7	139652526	missense
R8977:Cfap46	UTSW	7	139679933	missense	probably benign	0.01
R9048:Cfap46	UTSW	7	139627343	missense	unknown
R9224:Cfap46	UTSW	7	139678500	nonsense	probably null
R9243:Cfap46	UTSW	7	139615349	intron	probably benign
R9252:Cfap46	UTSW	7	139618249	missense	unknown
R9276:Cfap46	UTSW	7	139621291	missense	unknown
R9301:Cfap46	UTSW	7	139642545	missense
R9391:Cfap46	UTSW	7	139618111	missense	unknown
R9402:Cfap46	UTSW	7	139635949	missense	unknown
R9443:Cfap46	UTSW	7	139615107	missense
R9564:Cfap46	UTSW	7	139651555	missense
R9625:Cfap46	UTSW	7	139650889	missense
R9626:Cfap46	UTSW	7	139650889	missense
R9638:Cfap46	UTSW	7	139629847	missense	unknown
R9656:Cfap46	UTSW	7	139655900	missense
R9658:Cfap46	UTSW	7	139666313	missense
R9747:Cfap46	UTSW	7	139611991	missense	unknown
RF023:Cfap46	UTSW	7	139638918
W0251:Cfap46	UTSW	7	139603946	missense	probably benign	0.11
X0018:Cfap46	UTSW	7	139680912	missense	probably benign	0.03
X0064:Cfap46	UTSW	7	139603447	missense	probably benign	0.01
Z1088:Cfap46	UTSW	7	139635064	missense	probably damaging	0.96
Z1176:Cfap46	UTSW	7	139639548	missense
Z1177:Cfap46	UTSW	7	139601267	missense	unknown
Z1177:Cfap46	UTSW	7	139630626	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACACAGGTGTAGATCAGCAGCAATG -3'
(R):5'- GTGTCCAGTAGGGACAGATGCAAC -3'

Sequencing Primer
(F):5'- CTGGCACACATTTGCAGTAG -3'
(R):5'- TCTGGGTCCTACAACAGCTAGAG -3'

Posted On

2013-07-30