Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4504001:Flacc1'

555988

Institutional Source

Beutler Lab

Gene Symbol

Flacc1

Ensembl Gene

ENSMUSG00000047528

Gene Name

flagellum associated containing coiled-coil domains 1

Synonyms

Als2cr12, 4933405P16Rik, 4933425F06Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

PIT4504001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58696085-58735167 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58698258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 348 (I348F)

Ref Sequence

ENSEMBL: ENSMUSP00000139420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055313] [ENSMUST00000188772] [ENSMUST00000191252] [ENSMUST00000191565]

AlphaFold

Q8BVM7

Predicted Effect

probably benign
Transcript: ENSMUST00000055313
AA Change: I348F

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000062497
Gene: ENSMUSG00000047528
AA Change: I348F

Domain	Start	End	E-Value	Type
coiled coil region	125	221	N/A	INTRINSIC
coiled coil region	276	359	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000188772

SMART Domains

Protein: ENSMUSP00000140780
Gene: ENSMUSG00000047528

Domain	Start	End	E-Value	Type
coiled coil region	125	221	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191252

Predicted Effect

probably benign
Transcript: ENSMUST00000191565
AA Change: I348F

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000139420
Gene: ENSMUSG00000047528
AA Change: I348F

Domain	Start	End	E-Value	Type
coiled coil region	125	221	N/A	INTRINSIC
coiled coil region	276	359	N/A	INTRINSIC
low complexity region	386	404	N/A	INTRINSIC

Coding Region Coverage

1x: 92.8%
3x: 90.6%
10x: 84.7%
20x: 71.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	T	A	2: 103,547,537 (GRCm39)	C970*	probably null	Het
Adgrv1	G	A	13: 81,707,471 (GRCm39)	P1312S	probably damaging	Het
Arid5a	T	C	1: 36,356,706 (GRCm39)	I116T	probably damaging	Het
Bank1	C	A	3: 135,806,180 (GRCm39)	D485Y	probably damaging	Het
Cbln3	C	T	14: 56,120,956 (GRCm39)	V122M	probably damaging	Het
Cox10	C	T	11: 63,855,042 (GRCm39)	C413Y	possibly damaging	Het
Ctsll3	T	A	13: 60,948,823 (GRCm39)	D44V	probably benign	Het
Cuzd1	A	T	7: 130,911,529 (GRCm39)	N483K	possibly damaging	Het
Dcaf4	G	A	12: 83,580,785 (GRCm39)		probably null	Het
Ddx60	A	G	8: 62,411,147 (GRCm39)	T470A	probably benign	Het
Dennd1b	T	C	1: 138,967,742 (GRCm39)	V44A	probably benign	Het
Dusp16	C	A	6: 134,716,846 (GRCm39)	V154F	possibly damaging	Het
Ect2	G	A	3: 27,181,097 (GRCm39)	R586*	probably null	Het
Ermard	T	A	17: 15,279,084 (GRCm39)	C460*	probably null	Het
Fat2	C	T	11: 55,146,936 (GRCm39)	G4020D	possibly damaging	Het
Galnt16	G	T	12: 80,639,191 (GRCm39)	E402*	probably null	Het
Gm5414	T	G	15: 101,534,258 (GRCm39)	D282A	probably damaging	Het
Gm6741	C	T	17: 91,544,344 (GRCm39)	Q36*	probably null	Het
Gm7356	A	T	17: 14,221,720 (GRCm39)	L103Q	probably damaging	Het
Hcn1	A	G	13: 118,112,411 (GRCm39)	T792A	possibly damaging	Het
Hemgn	T	C	4: 46,395,863 (GRCm39)	N458D	probably benign	Het
Hesx1	C	A	14: 26,723,838 (GRCm39)	D140E	probably benign	Het
Hjv	A	T	3: 96,435,813 (GRCm39)	D357V	probably damaging	Het
Hmgcr	A	G	13: 96,799,605 (GRCm39)	I163T	possibly damaging	Het
Igfbpl1	T	C	4: 45,813,469 (GRCm39)	T249A	possibly damaging	Het
Il33	A	T	19: 29,930,139 (GRCm39)	H78L	probably benign	Het
Inpp4b	A	T	8: 82,768,564 (GRCm39)	D691V	probably damaging	Het
Itpr2	T	A	6: 146,131,369 (GRCm39)	N1945I	probably damaging	Het
Lnpep	A	G	17: 17,799,289 (GRCm39)	V122A	probably benign	Het
Lrp2	T	C	2: 69,305,747 (GRCm39)	D2938G	probably damaging	Het
Lrrc8c	A	T	5: 105,756,403 (GRCm39)	Y726F	probably benign	Het
Magi3	G	T	3: 103,922,842 (GRCm39)	Q1292K	probably benign	Het
Mllt3	A	C	4: 87,692,324 (GRCm39)	F546L	probably damaging	Het
Mrpl14	A	G	17: 46,009,147 (GRCm39)	K82R	probably benign	Het
Noxred1	A	G	12: 87,271,653 (GRCm39)	V172A	possibly damaging	Het
Obscn	A	T	11: 59,023,948 (GRCm39)	I574N	probably damaging	Het
Or2n1b	A	G	17: 38,460,060 (GRCm39)	T194A	probably benign	Het
Or5k8	T	A	16: 58,644,671 (GRCm39)	T134S	probably benign	Het
Osbpl11	T	A	16: 33,054,864 (GRCm39)	V649D	probably benign	Het
Pdlim2	G	T	14: 70,403,579 (GRCm39)	P278T	probably benign	Het
Pm20d2	A	C	4: 33,183,152 (GRCm39)	L223V	probably damaging	Het
Pmpcb	G	T	5: 21,948,388 (GRCm39)	R223L	probably damaging	Het
Pole2	A	T	12: 69,256,759 (GRCm39)	Y255*	probably null	Het
Rims1	T	A	1: 22,467,684 (GRCm39)	I317L		Het
Scnn1g	C	A	7: 121,341,554 (GRCm39)	H239N	probably benign	Het
Spag17	A	G	3: 100,010,426 (GRCm39)		probably null	Het
Tenm3	A	T	8: 48,746,692 (GRCm39)	F1038I	probably damaging	Het
Tshz2	T	C	2: 169,727,971 (GRCm39)	F856L	probably damaging	Het
Ubtf	A	G	11: 102,197,508 (GRCm39)	S715P	unknown	Het
Usp13	A	C	3: 32,959,579 (GRCm39)	S557R	probably damaging	Het
Usp19	T	A	9: 108,370,169 (GRCm39)	S43T	probably benign	Het
Vmn2r7	A	T	3: 64,623,397 (GRCm39)	Y308N	probably benign	Het
Zfp455	A	G	13: 67,346,685 (GRCm39)	D32G	probably damaging	Het
Zfp512	T	A	5: 31,634,225 (GRCm39)		probably null	Het
Zfr	A	G	15: 12,166,244 (GRCm39)	E838G	possibly damaging	Het

Other mutations in Flacc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01521:Flacc1	APN	1	58,709,553 (GRCm39)	missense	probably damaging	0.98
IGL02549:Flacc1	APN	1	58,698,441 (GRCm39)	missense	probably benign	0.05
IGL02647:Flacc1	APN	1	58,709,613 (GRCm39)	missense	probably benign
IGL03098:Flacc1	UTSW	1	58,730,908 (GRCm39)	missense	probably benign	0.06
R1147:Flacc1	UTSW	1	58,708,622 (GRCm39)	missense	probably damaging	0.99
R1147:Flacc1	UTSW	1	58,708,622 (GRCm39)	missense	probably damaging	0.99
R1959:Flacc1	UTSW	1	58,698,437 (GRCm39)	missense	possibly damaging	0.92
R1960:Flacc1	UTSW	1	58,698,437 (GRCm39)	missense	possibly damaging	0.92
R3815:Flacc1	UTSW	1	58,698,164 (GRCm39)	missense	probably damaging	0.98
R4445:Flacc1	UTSW	1	58,706,080 (GRCm39)	missense	possibly damaging	0.83
R4617:Flacc1	UTSW	1	58,700,601 (GRCm39)	missense	probably benign	0.19
R4720:Flacc1	UTSW	1	58,717,507 (GRCm39)	missense	possibly damaging	0.46
R4816:Flacc1	UTSW	1	58,709,567 (GRCm39)	missense	probably benign	0.10
R4947:Flacc1	UTSW	1	58,715,698 (GRCm39)	missense	probably benign	0.05
R4960:Flacc1	UTSW	1	58,706,965 (GRCm39)	missense	probably damaging	0.98
R4970:Flacc1	UTSW	1	58,698,441 (GRCm39)	missense	probably benign	0.05
R5018:Flacc1	UTSW	1	58,730,109 (GRCm39)	missense	probably benign
R5112:Flacc1	UTSW	1	58,698,441 (GRCm39)	missense	probably benign	0.05
R5269:Flacc1	UTSW	1	58,730,919 (GRCm39)	missense	possibly damaging	0.83
R5426:Flacc1	UTSW	1	58,706,045 (GRCm39)	nonsense	probably null
R5541:Flacc1	UTSW	1	58,697,588 (GRCm39)	missense	probably benign	0.03
R5845:Flacc1	UTSW	1	58,706,937 (GRCm39)	missense	possibly damaging	0.46
R5863:Flacc1	UTSW	1	58,730,908 (GRCm39)	missense	probably benign	0.06
R6364:Flacc1	UTSW	1	58,697,531 (GRCm39)	missense	probably damaging	0.96
R6430:Flacc1	UTSW	1	58,717,448 (GRCm39)	missense	probably damaging	0.98
R6527:Flacc1	UTSW	1	58,731,572 (GRCm39)	start codon destroyed	probably null	0.01
R6573:Flacc1	UTSW	1	58,706,003 (GRCm39)	missense	probably benign	0.27
R7367:Flacc1	UTSW	1	58,706,023 (GRCm39)	missense	probably benign	0.07
R7459:Flacc1	UTSW	1	58,730,911 (GRCm39)	missense	possibly damaging	0.46
R7497:Flacc1	UTSW	1	58,717,467 (GRCm39)	missense	probably damaging	1.00
R8317:Flacc1	UTSW	1	58,715,707 (GRCm39)	missense	possibly damaging	0.94
R8925:Flacc1	UTSW	1	58,706,882 (GRCm39)	splice site	probably null
R9542:Flacc1	UTSW	1	58,717,504 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- GGTCCAGAAGTTTACCTCCTCC -3'
(R):5'- AGCTACTGTTCTGGAGACCC -3'

Sequencing Primer
(F):5'- AGACGGTGACCTGACCTATC -3'
(R):5'- GGAGACCCTGAACACAAACCTTTTC -3'

Posted On

2019-06-07