Mutagenetix > Incidental Mutation

Incidental Mutation 'R5254:Cfap46'

399353

Institutional Source

Beutler Lab

Gene Symbol

Cfap46

Ensembl Gene

ENSMUSG00000049571

Gene Name

cilia and flagella associated protein 46

Synonyms

9330101J02Rik, Ttc40

MMRRC Submission

042825-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5254 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139180867-139263733 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139258430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 281 (H281L)

Ref Sequence

ENSEMBL: ENSMUSP00000120186 (fasta)

Gene Model

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

AlphaFold

E9Q2C0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129990
AA Change: H281L

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000120186
Gene: ENSMUSG00000049571
AA Change: H281L

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

probably benign
Transcript: ENSMUST00000130453

SMART Domains

Protein: ENSMUSP00000115437
Gene: ENSMUSG00000049571

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138129

Predicted Effect

probably benign
Transcript: ENSMUST00000140820
AA Change: H281L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000121085
Gene: ENSMUSG00000049571
AA Change: H281L

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

98% (82/84)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	G	T	8: 71,911,042 (GRCm39)	C296*	probably null	Het
Adam11	T	A	11: 102,665,098 (GRCm39)	Y413*	probably null	Het
Ankhd1	A	G	18: 36,789,768 (GRCm39)	I907V	probably benign	Het
Arrdc5	A	G	17: 56,604,897 (GRCm39)	I130T	probably benign	Het
Asic5	T	A	3: 81,928,294 (GRCm39)	I419K	probably damaging	Het
Atp4a	A	T	7: 30,414,955 (GRCm39)	E248V	probably damaging	Het
Avil	C	A	10: 126,847,630 (GRCm39)	V154L	probably benign	Het
Bclaf1	T	A	10: 20,199,282 (GRCm39)	H226Q	possibly damaging	Het
Cald1	A	G	6: 34,723,351 (GRCm39)		probably benign	Het
Cd200r4	A	C	16: 44,652,453 (GRCm39)	D27A	possibly damaging	Het
Cdsn	T	A	17: 35,863,099 (GRCm39)	M1K	probably null	Het
Chaf1a	T	C	17: 56,369,606 (GRCm39)	F533L	probably benign	Het
Chil4	T	A	3: 106,126,768 (GRCm39)	I5F	probably benign	Het
Ctu2	A	T	8: 123,203,327 (GRCm39)	R48W	probably damaging	Het
Daam1	A	T	12: 71,993,350 (GRCm39)	H373L	unknown	Het
Dcaf10	T	A	4: 45,370,415 (GRCm39)	Y328N	possibly damaging	Het
Dst	A	T	1: 34,217,012 (GRCm39)	K1151*	probably null	Het
Ect2	T	C	3: 27,184,219 (GRCm39)	D503G	probably damaging	Het
Epm2a	C	A	10: 11,333,089 (GRCm39)	D307E	probably benign	Het
Exph5	A	T	9: 53,249,230 (GRCm39)	D73V	probably damaging	Het
Fam20b	C	T	1: 156,533,310 (GRCm39)	G102D	probably damaging	Het
Fat2	T	C	11: 55,172,001 (GRCm39)	N2904S	probably damaging	Het
Flt3	T	A	5: 147,312,500 (GRCm39)	Q147L	possibly damaging	Het
Fndc11	A	G	2: 180,863,956 (GRCm39)	T254A	possibly damaging	Het
Galnt15	C	T	14: 31,780,244 (GRCm39)	R514*	probably null	Het
Gbgt1	A	G	2: 28,395,220 (GRCm39)	D286G	probably damaging	Het
Ggt1	T	A	10: 75,415,032 (GRCm39)		probably null	Het
Gm26526	A	T	7: 39,238,658 (GRCm39)		noncoding transcript	Het
H2-K2	T	C	17: 34,216,436 (GRCm39)	T237A	probably damaging	Het
Igf1r	T	A	7: 67,857,067 (GRCm39)	S1010T	probably damaging	Het
Il21	T	C	3: 37,281,884 (GRCm39)	T87A	possibly damaging	Het
Kmt2b	G	A	7: 30,268,600 (GRCm39)	R2010C	probably damaging	Het
Kmt2c	G	A	5: 25,519,592 (GRCm39)	P2173S	probably benign	Het
Krt1	A	T	15: 101,754,803 (GRCm39)	S512T	unknown	Het
Krtap16-1	G	A	11: 99,876,424 (GRCm39)	R327*	probably null	Het
Lama1	T	A	17: 68,063,711 (GRCm39)	I745N	probably benign	Het
Lrrk1	T	A	7: 65,956,855 (GRCm39)	N372I	probably benign	Het
Lyst	A	T	13: 13,857,655 (GRCm39)	E2481D	probably benign	Het
Map2k1	A	T	9: 64,095,027 (GRCm39)		probably benign	Het
Mbip	A	G	12: 56,384,228 (GRCm39)	V215A	probably damaging	Het
Mdc1	T	A	17: 36,158,814 (GRCm39)	V398D	probably benign	Het
Mog	T	G	17: 37,323,264 (GRCm39)	I225L	probably benign	Het
Mrgprx3-ps	T	A	7: 46,959,184 (GRCm39)		noncoding transcript	Het
Muc5b	C	T	7: 141,418,277 (GRCm39)	S3741L	probably benign	Het
Myo5a	A	T	9: 75,037,402 (GRCm39)	I202F	probably damaging	Het
Myo5b	A	T	18: 74,833,677 (GRCm39)	I818F	possibly damaging	Het
Nfia	T	A	4: 97,902,534 (GRCm39)	M262K	probably damaging	Het
Nisch	C	T	14: 30,928,524 (GRCm39)		probably null	Het
Nkd1	A	G	8: 89,315,822 (GRCm39)	D64G	probably damaging	Het
Nt5c2	T	A	19: 46,881,999 (GRCm39)	K284*	probably null	Het
Or14a259	A	T	7: 86,013,398 (GRCm39)	V49E	possibly damaging	Het
Or4k15b	C	A	14: 50,272,135 (GRCm39)	A242S	possibly damaging	Het
Or4l1	A	T	14: 50,166,236 (GRCm39)	I255N	probably damaging	Het
Or52z14	T	G	7: 103,252,996 (GRCm39)	I45R	probably benign	Het
Or5an1c	A	G	19: 12,218,612 (GRCm39)	S138P	probably damaging	Het
Or5j3	A	T	2: 86,128,265 (GRCm39)	Y35F	probably damaging	Het
Or8g55	A	T	9: 39,784,741 (GRCm39)	T57S	possibly damaging	Het
Or8k24	A	T	2: 86,216,484 (GRCm39)	S93T	possibly damaging	Het
Pcdhb17	A	T	18: 37,619,878 (GRCm39)	D556V	probably damaging	Het
Pcdhga8	A	T	18: 37,859,673 (GRCm39)	D243V	probably benign	Het
Polq	A	T	16: 36,909,681 (GRCm39)	Q2355L	probably damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc5a4a	C	A	10: 76,018,572 (GRCm39)	Y506*	probably null	Het
Sp110	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Tarbp1	G	A	8: 127,193,895 (GRCm39)	H336Y	probably damaging	Het
Tas2r134	T	G	2: 51,517,559 (GRCm39)	F13V	probably benign	Het
Tgfb2	A	G	1: 186,436,680 (GRCm39)	Y98H	probably damaging	Het
Tmprss11a	C	A	5: 86,559,665 (GRCm39)	V376L	probably damaging	Het
Tmprss11f	T	A	5: 86,685,892 (GRCm39)	K158N	probably benign	Het
Tnip2	G	T	5: 34,660,922 (GRCm39)	Q177K	probably damaging	Het
Trp53inp1	T	A	4: 11,165,075 (GRCm39)		probably null	Het
Ttc28	C	T	5: 111,419,104 (GRCm39)	P1398S	probably benign	Het
Umodl1	T	G	17: 31,199,333 (GRCm39)	I308S	possibly damaging	Het
Vcan	A	T	13: 89,839,719 (GRCm39)	S1942T	probably damaging	Het
Vmn2r124	T	A	17: 18,283,339 (GRCm39)	N344K	probably benign	Het
Vmn2r25	C	G	6: 123,802,277 (GRCm39)	C542S	probably damaging	Het
Wiz	T	A	17: 32,597,470 (GRCm39)		probably benign	Het
Wrap73	A	G	4: 154,239,803 (GRCm39)	Y343C	probably benign	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
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
R8447:Cfap46	UTSW	7	139,260,902 (GRCm39)	missense	possibly damaging	0.90
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'- GACGATATTACCAGGGAGGC -3'
(R):5'- AATTTGCCCGGGAAATGAGAC -3'

Sequencing Primer
(F):5'- TATTACCAGGGAGGCTCTAGC -3'
(R):5'- CCATTCCCTAAGAAGCATGGGTTG -3'

Posted On

2016-07-06