Mutagenetix > Incidental Mutation

Incidental Mutation 'R7623:Cfap46'

589256

Institutional Source

Beutler Lab

Gene Symbol

Cfap46

Ensembl Gene

ENSMUSG00000049571

Gene Name

cilia and flagella associated protein 46

Synonyms

9330101J02Rik, Ttc40

MMRRC Submission

045718-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7623 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139180867-139263733 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139198266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 2054 (E2054G)

Ref Sequence

ENSEMBL: ENSMUSP00000120186 (fasta)

Gene Model

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

AlphaFold

E9Q2C0

Predicted Effect

unknown
Transcript: ENSMUST00000129990
AA Change: E2054G

SMART Domains

Protein: ENSMUSP00000120186
Gene: ENSMUSG00000049571
AA Change: E2054G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	G	T	16: 21,513,092 (GRCm39)	L22M	probably damaging	Het
Abca9	T	C	11: 109,998,384 (GRCm39)	N1468S	probably benign	Het
Abcc5	C	T	16: 20,163,446 (GRCm39)	D1264N	possibly damaging	Het
Abhd10	A	G	16: 45,553,099 (GRCm39)		probably benign	Het
Acadvl	G	T	11: 69,901,569 (GRCm39)	A570E	probably damaging	Het
Adgrb3	T	A	1: 25,586,629 (GRCm39)	S355C	probably damaging	Het
Adgrv1	A	G	13: 81,570,344 (GRCm39)	V4953A	possibly damaging	Het
Ano2	T	A	6: 125,992,536 (GRCm39)	Y836*	probably null	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Ccdc8	T	A	7: 16,730,537 (GRCm39)	D675E	possibly damaging	Het
Ccnb2	A	G	9: 70,326,170 (GRCm39)	V58A	probably benign	Het
Cdcp3	T	A	7: 130,879,295 (GRCm39)		probably null	Het
Cdh24	A	T	14: 54,875,547 (GRCm39)	Y296N	probably damaging	Het
Cnot1	A	T	8: 96,454,276 (GRCm39)	F2067I	probably damaging	Het
Csmd3	A	G	15: 47,813,334 (GRCm39)	F329S		Het
Dact3	C	A	7: 16,619,840 (GRCm39)	T445K	unknown	Het
Dph6	C	A	2: 114,485,379 (GRCm39)		probably benign	Het
Dst	T	A	1: 34,209,517 (GRCm39)	C1195S	probably damaging	Het
Eeig1	A	G	2: 32,456,346 (GRCm39)	D336G	possibly damaging	Het
Fat3	T	A	9: 15,899,620 (GRCm39)	N3138Y	probably damaging	Het
Fbxw25	T	C	9: 109,483,651 (GRCm39)	N187S		Het
Fuca1	A	G	4: 135,660,405 (GRCm39)	I308V	probably benign	Het
Galnt5	A	G	2: 57,907,222 (GRCm39)	R562G	probably damaging	Het
Gas8	G	T	8: 124,249,718 (GRCm39)	R44S	probably damaging	Het
Gja5	T	C	3: 96,958,071 (GRCm39)	S43P	possibly damaging	Het
Gm14403	A	G	2: 177,200,405 (GRCm39)	D117G	probably benign	Het
Gmpr2	G	A	14: 55,910,491 (GRCm39)	V58M	probably damaging	Het
Gtpbp6	T	A	5: 110,252,950 (GRCm39)	I301F	probably damaging	Het
H2bc22	T	A	13: 21,971,762 (GRCm39)	D26E	probably benign	Het
Hdhd5	T	C	6: 120,498,212 (GRCm39)	Y129C	probably damaging	Het
Hemgn	A	G	4: 46,396,504 (GRCm39)	M244T	probably benign	Het
Hoxa1	T	G	6: 52,135,238 (GRCm39)		probably null	Het
Iglc1	T	A	16: 18,880,551 (GRCm39)	H90L		Het
Lamb2	C	T	9: 108,366,423 (GRCm39)	S1545F	possibly damaging	Het
Mc4r	T	C	18: 66,992,580 (GRCm39)	T178A	probably benign	Het
Mcam	T	A	9: 44,050,955 (GRCm39)	S346T	probably benign	Het
Mis18bp1	A	G	12: 65,195,626 (GRCm39)	S713P	probably benign	Het
Mybl2	A	G	2: 162,914,752 (GRCm39)	Y290C	probably damaging	Het
Or4k44	T	C	2: 111,368,281 (GRCm39)	M118V	probably damaging	Het
Or7e168	A	T	9: 19,720,225 (GRCm39)	I204F	possibly damaging	Het
Pak6	A	G	2: 118,525,068 (GRCm39)	T565A	probably damaging	Het
Pde5a	A	G	3: 122,568,250 (GRCm39)	T284A	probably benign	Het
Pkd1l2	A	T	8: 117,756,384 (GRCm39)	F1616Y	probably damaging	Het
Pp2d1	T	C	17: 53,822,907 (GRCm39)	E53G	probably benign	Het
Ppp3cc	A	C	14: 70,478,394 (GRCm39)	S269R	probably benign	Het
Ptprb	A	C	10: 116,205,214 (GRCm39)	D1856A	possibly damaging	Het
Rgs22	A	T	15: 36,040,856 (GRCm39)	V1001E	probably benign	Het
Rnf8	T	A	17: 29,847,980 (GRCm39)	V344E	probably benign	Het
Rpn1	T	C	6: 88,061,550 (GRCm39)	L13P	possibly damaging	Het
Rsbn1	A	T	3: 103,822,326 (GRCm39)	H187L	probably benign	Het
Sdr16c6	T	A	4: 4,058,801 (GRCm39)	I262F	not run	Het
Sec22a	A	G	16: 35,149,894 (GRCm39)	F211L	probably benign	Het
Slc16a4	G	A	3: 107,205,297 (GRCm39)	A42T	possibly damaging	Het
Smap1	T	A	1: 23,887,376 (GRCm39)	Q386L	probably benign	Het
Sos1	A	T	17: 80,787,323 (GRCm39)	F10L	probably benign	Het
Sptbn2	A	G	19: 4,776,196 (GRCm39)	T202A	probably damaging	Het
Stab1	C	A	14: 30,862,578 (GRCm39)	V2282L	probably benign	Het
Tex55	C	T	16: 38,648,453 (GRCm39)	D219N	possibly damaging	Het
Tmprss11f	C	T	5: 86,672,019 (GRCm39)	G391D	probably damaging	Het
Tnfaip2	A	G	12: 111,412,072 (GRCm39)	S158G	probably damaging	Het
Trav6d-5	A	G	14: 53,032,843 (GRCm39)	T31A	probably benign	Het
Tst	G	A	15: 78,289,903 (GRCm39)	A44V	probably damaging	Het
Vmn1r210	A	T	13: 23,011,405 (GRCm39)	F294I	probably benign	Het
Vwc2	T	C	11: 11,066,415 (GRCm39)	F168L	probably damaging	Het
Wdr25	G	A	12: 108,958,819 (GRCm39)	G344S	possibly damaging	Het
Zfp605	A	G	5: 110,275,386 (GRCm39)	Y168C	probably benign	Het
Zfp790	T	A	7: 29,525,130 (GRCm39)	Y49*	probably null	Het
Zfp93	T	C	7: 23,975,794 (GRCm39)	F593S	probably damaging	Het
Zfr	C	T	15: 12,160,614 (GRCm39)	T729I	possibly 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
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'- AAGGTTGTTGCTCAGGGAAG -3'
(R):5'- GAAGGACCCACTGATCCTTACC -3'

Sequencing Primer
(F):5'- CTCAGGGAAGTCTGTATACACTGC -3'
(R):5'- GTGTTTTCCCTGCCAGCCAAG -3'

Posted On

2019-10-24