Mutagenetix > Incidental Mutation

Incidental Mutation 'R8447:Cfap46'

654548

Institutional Source

Beutler Lab

Gene Symbol

Cfap46

Ensembl Gene

ENSMUSG00000049571

Gene Name

cilia and flagella associated protein 46

Synonyms

9330101J02Rik, Ttc40

MMRRC Submission

067902-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8447 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

139180867-139263733 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 139260902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 65 (R65S)

Ref Sequence

ENSEMBL: ENSMUSP00000115437 (fasta)

Gene Model

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

AlphaFold

E9Q2C0

Predicted Effect

SMART Domains

Protein: ENSMUSP00000120186
Gene: ENSMUSG00000049571
AA Change: R124S

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: R65S

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115437
Gene: ENSMUSG00000049571
AA Change: R65S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140820
AA Change: R124S

PolyPhen 2 Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000121085
Gene: ENSMUSG00000049571
AA Change: R124S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	C	5: 8,957,278 (GRCm39)	T136P	probably damaging	Het
Abcc3	A	T	11: 94,254,886 (GRCm39)	L639Q	possibly damaging	Het
Adam10	T	A	9: 70,655,400 (GRCm39)	N289K	probably damaging	Het
Akap12	A	G	10: 4,306,289 (GRCm39)	E1138G	probably benign	Het
Akr1e1	C	A	13: 4,648,793 (GRCm39)	L167F	probably damaging	Het
Cars1	T	C	7: 143,123,766 (GRCm39)	K506E	possibly damaging	Het
Castor1	T	C	11: 4,170,165 (GRCm39)	V81A	probably damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Clec16a	C	A	16: 10,559,487 (GRCm39)	T920K	probably benign	Het
Coro2b	C	T	9: 62,333,842 (GRCm39)	E351K	probably damaging	Het
Diablo	T	C	5: 123,655,829 (GRCm39)	E163G	probably damaging	Het
Dnah6	A	G	6: 73,115,757 (GRCm39)	L1547P	probably damaging	Het
Dynll2	G	T	11: 87,874,719 (GRCm39)	D37E	probably benign	Het
Eml4	A	T	17: 83,755,656 (GRCm39)	Q408L	probably damaging	Het
F2rl3	T	C	8: 73,489,963 (GRCm39)	*397R	probably null	Het
Fance	T	A	17: 28,545,155 (GRCm39)	L127Q	unknown	Het
Fat4	T	C	3: 39,033,824 (GRCm39)	V2492A	possibly damaging	Het
Ggta1	C	T	2: 35,292,573 (GRCm39)	D245N	probably damaging	Het
Gli1	T	C	10: 127,166,106 (GRCm39)	N1049S	probably benign	Het
Grin2c	A	G	11: 115,148,215 (GRCm39)	V354A	probably benign	Het
Kank4	T	A	4: 98,666,729 (GRCm39)	I573F	probably damaging	Het
Kdm3a	A	G	6: 71,588,881 (GRCm39)	V376A	probably benign	Het
Kndc1	T	C	7: 139,481,121 (GRCm39)	V69A	probably damaging	Het
Lcmt1	T	A	7: 123,020,825 (GRCm39)	L250Q	probably damaging	Het
Ldhb	A	T	6: 142,444,356 (GRCm39)	V99D	probably damaging	Het
Lepr	T	C	4: 101,671,688 (GRCm39)	V904A	probably benign	Het
Lipe	G	T	7: 25,080,017 (GRCm39)	N710K	probably damaging	Het
Med1	C	A	11: 98,060,240 (GRCm39)	D230Y	probably damaging	Het
Mpv17l	T	A	16: 13,758,864 (GRCm39)	I96K	probably benign	Het
Obox1	A	T	7: 15,289,541 (GRCm39)	Q110L	probably damaging	Het
Or11h6	T	C	14: 50,880,008 (GRCm39)	V84A	probably benign	Het
Or4f4b	T	A	2: 111,314,101 (GRCm39)	Y137N	probably damaging	Het
Or4k37	T	A	2: 111,159,307 (GRCm39)	I181N	possibly damaging	Het
Or5t16	T	A	2: 86,818,885 (GRCm39)	I212F	probably benign	Het
Or6c76	T	G	10: 129,612,371 (GRCm39)	M211R	possibly damaging	Het
Or9s14	C	A	1: 92,535,494 (GRCm39)		probably benign	Het
Pah	T	C	10: 87,417,827 (GRCm39)		probably null	Het
Pate1	A	T	9: 35,597,631 (GRCm39)	N40K	probably benign	Het
Pclo	C	A	5: 14,731,423 (GRCm39)	D182E		Het
Prl7a2	A	T	13: 27,849,941 (GRCm39)	S44T	possibly damaging	Het
Pwp2	T	A	10: 78,007,873 (GRCm39)	D894V	probably benign	Het
Ripor2	T	A	13: 24,907,771 (GRCm39)	L1014Q	probably damaging	Het
Rpe	G	A	1: 66,740,188 (GRCm39)		probably null	Het
Sh2d3c	A	G	2: 32,642,671 (GRCm39)	T706A	probably damaging	Het
Slc34a1	T	C	13: 24,006,309 (GRCm39)	F445S	possibly damaging	Het
Spata20	C	A	11: 94,373,080 (GRCm39)	L515F	probably damaging	Het
Tcf20	G	A	15: 82,737,437 (GRCm39)	S1338F	possibly damaging	Het
Tm9sf2	C	A	14: 122,377,180 (GRCm39)	P236Q	probably damaging	Het
Tmem135	T	C	7: 88,803,240 (GRCm39)	Y311C	probably damaging	Het
Tmem245	T	C	4: 56,906,261 (GRCm39)	Q548R	probably benign	Het
Tmem94	G	T	11: 115,688,023 (GRCm39)	C1190F	possibly damaging	Het
Tmem94	G	A	11: 115,688,696 (GRCm39)	R1301H	probably benign	Het
Zp3	G	A	5: 136,013,244 (GRCm39)	G192E	probably damaging	Het

Other mutations in Cfap46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00480:Cfap46	APN	7	139,240,605 (GRCm39)	missense	probably damaging	0.96
IGL00493:Cfap46	APN	7	139,194,359 (GRCm39)	missense	probably benign	0.06
IGL00505:Cfap46	APN	7	139,240,605 (GRCm39)	missense	probably damaging	0.96
IGL00508:Cfap46	APN	7	139,240,605 (GRCm39)	missense	probably damaging	0.96
IGL00514:Cfap46	APN	7	139,240,605 (GRCm39)	missense	probably damaging	0.96
IGL01394:Cfap46	APN	7	139,246,895 (GRCm39)	missense	probably damaging	1.00
IGL01621:Cfap46	APN	7	139,186,523 (GRCm39)	missense	unknown
IGL02171:Cfap46	APN	7	139,246,972 (GRCm39)	missense	possibly damaging	0.86
IGL02343:Cfap46	APN	7	139,262,425 (GRCm39)	missense	probably damaging	0.99
IGL02679:Cfap46	APN	7	139,194,386 (GRCm39)	missense	probably damaging	0.99
IGL02687:Cfap46	APN	7	139,187,117 (GRCm39)	missense	probably damaging	0.99
IGL03180:Cfap46	APN	7	139,183,168 (GRCm39)	missense	unknown
IGL03329:Cfap46	APN	7	139,181,081 (GRCm39)	missense	probably damaging	0.99
FR4449:Cfap46	UTSW	7	139,218,711 (GRCm39)	utr 3 prime	probably benign
FR4737:Cfap46	UTSW	7	139,218,846 (GRCm39)	utr 3 prime	probably benign
FR4976:Cfap46	UTSW	7	139,218,846 (GRCm39)	utr 3 prime	probably benign
PIT4651001:Cfap46	UTSW	7	139,225,467 (GRCm39)	missense
R0051:Cfap46	UTSW	7	139,255,951 (GRCm39)	missense	probably damaging	1.00
R0051:Cfap46	UTSW	7	139,255,951 (GRCm39)	missense	probably damaging	1.00
R0318:Cfap46	UTSW	7	139,234,482 (GRCm39)	missense	probably damaging	1.00
R0358:Cfap46	UTSW	7	139,231,449 (GRCm39)	splice site	probably benign
R0650:Cfap46	UTSW	7	139,185,571 (GRCm39)	missense	unknown
R0675:Cfap46	UTSW	7	139,255,950 (GRCm39)	missense	probably damaging	1.00
R0750:Cfap46	UTSW	7	139,234,586 (GRCm39)	missense	probably damaging	1.00
R0931:Cfap46	UTSW	7	139,235,757 (GRCm39)	missense	probably damaging	1.00
R1024:Cfap46	UTSW	7	139,222,513 (GRCm39)	missense	probably benign	0.42
R1251:Cfap46	UTSW	7	139,181,181 (GRCm39)	missense	probably benign	0.40
R1257:Cfap46	UTSW	7	139,234,545 (GRCm39)	nonsense	probably null
R1538:Cfap46	UTSW	7	139,262,924 (GRCm39)	missense	probably null	1.00
R1618:Cfap46	UTSW	7	139,232,726 (GRCm39)	missense	probably benign	0.04
R1655:Cfap46	UTSW	7	139,222,436 (GRCm39)	nonsense	probably null
R1824:Cfap46	UTSW	7	139,219,518 (GRCm39)	missense	probably benign	0.12
R1830:Cfap46	UTSW	7	139,220,323 (GRCm39)	missense	possibly damaging	0.92
R1857:Cfap46	UTSW	7	139,233,324 (GRCm39)	missense	probably damaging	1.00
R1870:Cfap46	UTSW	7	139,263,386 (GRCm39)	missense	probably damaging	1.00
R1945:Cfap46	UTSW	7	139,259,819 (GRCm39)	missense	probably damaging	1.00
R1962:Cfap46	UTSW	7	139,246,957 (GRCm39)	missense	probably damaging	1.00
R2108:Cfap46	UTSW	7	139,263,677 (GRCm39)	missense	probably benign	0.03
R2354:Cfap46	UTSW	7	139,240,962 (GRCm39)	missense	probably damaging	0.99
R2367:Cfap46	UTSW	7	139,233,414 (GRCm39)	missense	probably damaging	0.99
R3237:Cfap46	UTSW	7	139,197,506 (GRCm39)	missense	probably damaging	1.00
R3617:Cfap46	UTSW	7	139,219,515 (GRCm39)	missense	probably benign	0.06
R3949:Cfap46	UTSW	7	139,258,467 (GRCm39)	missense	probably benign	0.12
R4239:Cfap46	UTSW	7	139,246,203 (GRCm39)	missense	possibly damaging	0.74
R4240:Cfap46	UTSW	7	139,246,203 (GRCm39)	missense	possibly damaging	0.74
R4297:Cfap46	UTSW	7	139,232,589 (GRCm39)	missense	probably benign	0.27
R4365:Cfap46	UTSW	7	139,230,868 (GRCm39)	missense	probably damaging	0.99
R4516:Cfap46	UTSW	7	139,239,998 (GRCm39)	intron	probably benign
R4595:Cfap46	UTSW	7	139,232,320 (GRCm39)	missense	possibly damaging	0.74
R4627:Cfap46	UTSW	7	139,260,843 (GRCm39)	missense	probably damaging	1.00
R4627:Cfap46	UTSW	7	139,237,197 (GRCm39)	missense	probably damaging	0.99
R4628:Cfap46	UTSW	7	139,260,843 (GRCm39)	missense	probably damaging	1.00
R4629:Cfap46	UTSW	7	139,260,843 (GRCm39)	missense	probably damaging	1.00
R4687:Cfap46	UTSW	7	139,207,372 (GRCm39)	missense	possibly damaging	0.79
R4750:Cfap46	UTSW	7	139,259,239 (GRCm39)	critical splice donor site	probably null
R4771:Cfap46	UTSW	7	139,210,524 (GRCm39)	missense	probably null
R4779:Cfap46	UTSW	7	139,239,731 (GRCm39)	intron	probably benign
R4812:Cfap46	UTSW	7	139,215,916 (GRCm39)	missense	probably damaging	1.00
R4974:Cfap46	UTSW	7	139,187,104 (GRCm39)	critical splice donor site	probably null
R5014:Cfap46	UTSW	7	139,207,291 (GRCm39)	missense	probably benign	0.12
R5033:Cfap46	UTSW	7	139,183,776 (GRCm39)	missense	probably benign	0.00
R5055:Cfap46	UTSW	7	139,241,106 (GRCm39)	missense	probably damaging	1.00
R5254:Cfap46	UTSW	7	139,258,430 (GRCm39)	missense	possibly damaging	0.77
R5288:Cfap46	UTSW	7	139,193,423 (GRCm39)	critical splice donor site	probably null
R5366:Cfap46	UTSW	7	139,230,802 (GRCm39)	missense	probably damaging	1.00
R5368:Cfap46	UTSW	7	139,207,389 (GRCm39)	missense	possibly damaging	0.77
R5371:Cfap46	UTSW	7	139,212,097 (GRCm39)	splice site	probably null
R5642:Cfap46	UTSW	7	139,258,493 (GRCm39)	missense	probably damaging	1.00
R5690:Cfap46	UTSW	7	139,218,269 (GRCm39)	missense	probably benign	0.01
R5691:Cfap46	UTSW	7	139,186,616 (GRCm39)	missense	possibly damaging	0.49
R5696:Cfap46	UTSW	7	139,191,947 (GRCm39)	missense	probably damaging	1.00
R5844:Cfap46	UTSW	7	139,230,858 (GRCm39)	missense	probably damaging	0.99
R5963:Cfap46	UTSW	7	139,231,511 (GRCm39)	missense	probably damaging	0.97
R6217:Cfap46	UTSW	7	139,218,816 (GRCm39)	utr 3 prime	probably benign
R6228:Cfap46	UTSW	7	139,236,496 (GRCm39)	missense	probably damaging	1.00
R6251:Cfap46	UTSW	7	139,218,816 (GRCm39)	utr 3 prime	probably benign
R6253:Cfap46	UTSW	7	139,218,816 (GRCm39)	utr 3 prime	probably benign
R6285:Cfap46	UTSW	7	139,241,001 (GRCm39)	missense	probably damaging	1.00
R6334:Cfap46	UTSW	7	139,260,747 (GRCm39)	missense	probably damaging	1.00
R6520:Cfap46	UTSW	7	139,194,321 (GRCm39)	critical splice donor site	probably null
R6736:Cfap46	UTSW	7	139,199,887 (GRCm39)	missense	possibly damaging	0.92
R6760:Cfap46	UTSW	7	139,232,356 (GRCm39)	missense	probably damaging	1.00
R6773:Cfap46	UTSW	7	139,222,477 (GRCm39)	utr 3 prime	probably benign
R6835:Cfap46	UTSW	7	139,232,414 (GRCm39)	missense	probably damaging	0.98
R6903:Cfap46	UTSW	7	139,234,477 (GRCm39)	critical splice donor site	probably null
R6912:Cfap46	UTSW	7	139,219,616 (GRCm39)	missense	probably benign	0.09
R7163:Cfap46	UTSW	7	139,197,994 (GRCm39)	critical splice donor site	probably null
R7232:Cfap46	UTSW	7	139,197,493 (GRCm39)	missense	unknown
R7327:Cfap46	UTSW	7	139,215,062 (GRCm39)	splice site	probably null
R7336:Cfap46	UTSW	7	139,200,020 (GRCm39)	missense	unknown
R7337:Cfap46	UTSW	7	139,210,492 (GRCm39)	critical splice donor site	probably null
R7437:Cfap46	UTSW	7	139,230,753 (GRCm39)	nonsense	probably null
R7450:Cfap46	UTSW	7	139,197,353 (GRCm39)	missense	unknown
R7495:Cfap46	UTSW	7	139,183,112 (GRCm39)	critical splice donor site	probably null
R7618:Cfap46	UTSW	7	139,183,155 (GRCm39)	missense
R7623:Cfap46	UTSW	7	139,198,266 (GRCm39)	missense	unknown
R7765:Cfap46	UTSW	7	139,231,480 (GRCm39)	missense
R7971:Cfap46	UTSW	7	139,215,043 (GRCm39)	missense	unknown
R8211:Cfap46	UTSW	7	139,213,220 (GRCm39)	missense	unknown
R8306:Cfap46	UTSW	7	139,236,496 (GRCm39)	missense
R8354:Cfap46	UTSW	7	139,233,414 (GRCm39)	missense	probably benign	0.03
R8365:Cfap46	UTSW	7	139,263,000 (GRCm39)	nonsense	probably null
R8715:Cfap46	UTSW	7	139,185,560 (GRCm39)	missense
R8805:Cfap46	UTSW	7	139,211,979 (GRCm39)	missense	unknown
R8830:Cfap46	UTSW	7	139,195,565 (GRCm39)	missense	unknown
R8912:Cfap46	UTSW	7	139,260,097 (GRCm39)	intron	probably benign
R8920:Cfap46	UTSW	7	139,232,442 (GRCm39)	missense
R8977:Cfap46	UTSW	7	139,259,849 (GRCm39)	missense	probably benign	0.01
R9048:Cfap46	UTSW	7	139,207,259 (GRCm39)	missense	unknown
R9224:Cfap46	UTSW	7	139,258,416 (GRCm39)	nonsense	probably null
R9243:Cfap46	UTSW	7	139,195,265 (GRCm39)	intron	probably benign
R9252:Cfap46	UTSW	7	139,198,165 (GRCm39)	missense	unknown
R9276:Cfap46	UTSW	7	139,201,207 (GRCm39)	missense	unknown
R9301:Cfap46	UTSW	7	139,222,461 (GRCm39)	missense
R9391:Cfap46	UTSW	7	139,198,027 (GRCm39)	missense	unknown
R9402:Cfap46	UTSW	7	139,215,865 (GRCm39)	missense	unknown
R9443:Cfap46	UTSW	7	139,195,023 (GRCm39)	missense
R9564:Cfap46	UTSW	7	139,231,471 (GRCm39)	missense
R9625:Cfap46	UTSW	7	139,230,805 (GRCm39)	missense
R9626:Cfap46	UTSW	7	139,230,805 (GRCm39)	missense
R9638:Cfap46	UTSW	7	139,209,763 (GRCm39)	missense	unknown
R9656:Cfap46	UTSW	7	139,235,816 (GRCm39)	missense
R9658:Cfap46	UTSW	7	139,246,229 (GRCm39)	missense
R9747:Cfap46	UTSW	7	139,191,907 (GRCm39)	missense	unknown
RF023:Cfap46	UTSW	7	139,218,834 (GRCm39)
W0251:Cfap46	UTSW	7	139,183,862 (GRCm39)	missense	probably benign	0.11
X0018:Cfap46	UTSW	7	139,260,828 (GRCm39)	missense	probably benign	0.03
X0064:Cfap46	UTSW	7	139,183,363 (GRCm39)	missense	probably benign	0.01
Z1088:Cfap46	UTSW	7	139,214,980 (GRCm39)	missense	probably damaging	0.96
Z1176:Cfap46	UTSW	7	139,219,464 (GRCm39)	missense
Z1177:Cfap46	UTSW	7	139,210,542 (GRCm39)	missense	unknown
Z1177:Cfap46	UTSW	7	139,181,183 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATCGTAATCAGGGACTCATCAGGG -3'
(R):5'- CATTGCTCGTGTGGGAAAGG -3'

Sequencing Primer
(F):5'- CAGGGACTCATCAGGGCTGTTAG -3'
(R):5'- CGTGTGGGAAAGGGCTGTC -3'

Posted On

2020-10-20