Mutagenetix > Incidental Mutation

Incidental Mutation 'R4445:Flacc1'

329818

Institutional Source

Beutler Lab

Gene Symbol

Flacc1

Ensembl Gene

ENSMUSG00000047528

Gene Name

flagellum associated containing coiled-coil domains 1

Synonyms

Als2cr12, 4933405P16Rik, 4933425F06Rik

MMRRC Submission

041151-MU

Accession Numbers

Essential gene?

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

Stock #

R4445 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58696085-58735167 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58706080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 263 (I263K)

Ref Sequence

ENSEMBL: ENSMUSP00000139420 (fasta)

Gene Model

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

AlphaFold

Q8BVM7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055313
AA Change: I263K

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000062497
Gene: ENSMUSG00000047528
AA Change: I263K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185953

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188772
AA Change: I263K

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140780
Gene: ENSMUSG00000047528
AA Change: I263K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000191252

Predicted Effect

possibly damaging
Transcript: ENSMUST00000191565
AA Change: I263K

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139420
Gene: ENSMUSG00000047528
AA Change: I263K

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	A	G	10: 14,285,507 (GRCm39)	S1160P	probably damaging	Het
Adgrl1	T	C	8: 84,661,489 (GRCm39)	L962P	probably damaging	Het
Arl6	A	T	16: 59,444,676 (GRCm39)	I51K	probably damaging	Het
Calcoco1	A	G	15: 102,624,175 (GRCm39)		probably null	Het
Cd59a	A	G	2: 103,941,163 (GRCm39)	Q47R	probably benign	Het
Cdkl2	G	A	5: 92,168,168 (GRCm39)	T342I	probably benign	Het
Cfap45	G	A	1: 172,362,794 (GRCm39)	V262M	probably benign	Het
Chd8	A	T	14: 52,441,984 (GRCm39)		probably null	Het
Cntnap2	C	T	6: 46,736,785 (GRCm39)	T737I	probably benign	Het
Cplane1	A	G	15: 8,281,672 (GRCm39)	D2837G	unknown	Het
Crot	T	C	5: 9,023,643 (GRCm39)	H415R	probably damaging	Het
Cyp17a1	A	G	19: 46,656,462 (GRCm39)	F411L	probably damaging	Het
Cyp4a12a	G	A	4: 115,183,980 (GRCm39)		probably null	Het
Cysltr2	G	A	14: 73,267,333 (GRCm39)	H126Y	possibly damaging	Het
Ddx56	A	T	11: 6,215,770 (GRCm39)		probably null	Het
Dync2i1	G	A	12: 116,171,335 (GRCm39)	A967V	probably damaging	Het
Elmod1	T	A	9: 53,841,413 (GRCm39)	D93V	probably damaging	Het
Epb41l2	T	C	10: 25,319,701 (GRCm39)	L178P	possibly damaging	Het
Galnt10	T	A	11: 57,674,517 (GRCm39)	V502D	probably damaging	Het
Gm11735	T	C	11: 116,629,888 (GRCm39)		noncoding transcript	Het
H4c12	T	C	13: 21,934,513 (GRCm39)	T55A	possibly damaging	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Igsf9b	A	G	9: 27,245,548 (GRCm39)	T1172A	probably benign	Het
Ip6k3	A	G	17: 27,364,076 (GRCm39)	I324T	probably benign	Het
Klkb1	C	T	8: 45,730,092 (GRCm39)	S263N	probably benign	Het
Lrit3	A	T	3: 129,582,180 (GRCm39)	C602*	probably null	Het
Lyst	T	C	13: 13,884,149 (GRCm39)	S2986P	probably benign	Het
Mapkapk5	T	C	5: 121,663,291 (GRCm39)	T445A	probably benign	Het
Mms19	A	T	19: 41,952,372 (GRCm39)	M119K	possibly damaging	Het
Myo7a	T	C	7: 97,715,611 (GRCm39)	D63G	probably damaging	Het
Nscme3l	A	T	19: 5,553,022 (GRCm39)	V253D	probably damaging	Het
Nsun2	G	A	13: 69,777,840 (GRCm39)		probably null	Het
Or13a24	C	A	7: 140,154,302 (GRCm39)	P79T	probably damaging	Het
Or1ak2	T	G	2: 36,827,563 (GRCm39)	L144R	probably damaging	Het
Or2ag1b	T	A	7: 106,288,353 (GRCm39)	Y195F	possibly damaging	Het
Or51t4	T	C	7: 102,598,005 (GRCm39)	L101P	possibly damaging	Het
Pabpc2	T	C	18: 39,907,253 (GRCm39)	F173L	probably damaging	Het
Rngtt	A	G	4: 33,499,035 (GRCm39)	I531V	probably benign	Het
Sacs	A	G	14: 61,442,135 (GRCm39)	M1394V	probably benign	Het
Setd1b	G	T	5: 123,286,167 (GRCm39)	E404D	unknown	Het
Slc25a54	G	A	3: 109,005,984 (GRCm39)	R164H	probably benign	Het
Slc2a13	A	G	15: 91,234,223 (GRCm39)	V371A	possibly damaging	Het
Spag9	C	G	11: 93,988,079 (GRCm39)	L798V	possibly damaging	Het
Tbce	A	T	13: 14,172,980 (GRCm39)	S484T	possibly damaging	Het
Tcf12	C	T	9: 71,776,345 (GRCm39)	R399Q	probably damaging	Het
Ttn	A	G	2: 76,615,177 (GRCm39)	V16847A	probably benign	Het
Ttn	A	G	2: 76,687,210 (GRCm39)		probably benign	Het
Vmn1r11	T	G	6: 57,114,515 (GRCm39)	L23V	probably benign	Het
Vmn2r59	C	T	7: 41,691,874 (GRCm39)	C541Y	probably damaging	Het
Vmn2r82	A	C	10: 79,214,874 (GRCm39)	T286P	possibly damaging	Het
Vps13c	T	G	9: 67,889,777 (GRCm39)		probably null	Het
Ypel1	A	T	16: 16,921,464 (GRCm39)	Y73*	probably null	Het
Zdhhc6	T	C	19: 55,291,169 (GRCm39)	I349V	probably benign	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
PIT4504001:Flacc1	UTSW	1	58,698,258 (GRCm39)	missense	probably benign	0.20
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
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'- TTGGGACCAACAAGTCACCC -3'
(R):5'- CTGATCCCACATGGCTACTGTC -3'

Sequencing Primer
(F):5'- CCAAGTACATAGGCCCAGTGG -3'
(R):5'- ACATGGCTACTGTCACAGC -3'

Posted On

2015-07-21