Mutagenetix > Incidental Mutation

Incidental Mutation 'R4617:Flacc1'

351084

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

041828-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R4617 (G1)

Quality Score

153

Status

Validated

Chromosome

Chromosomal Location

58696085-58735167 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58700601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 301 (D301E)

Ref Sequence

ENSEMBL: ENSMUSP00000062497 (fasta)

Gene Model

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

AlphaFold

Q8BVM7

Predicted Effect

probably benign
Transcript: ENSMUST00000055313
AA Change: D301E

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000062497
Gene: ENSMUSG00000047528
AA Change: D301E

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
AA Change: D301E

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

SMART Domains

Protein: ENSMUSP00000140780
Gene: ENSMUSG00000047528
AA Change: D301E

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: D301E

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

SMART Domains

Protein: ENSMUSP00000139420
Gene: ENSMUSG00000047528
AA Change: D301E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

96% (66/69)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,369,493 (GRCm39)	I363V	probably benign	Het
Acaa1a	T	A	9: 119,178,006 (GRCm39)	S279R	probably damaging	Het
Akr1cl	A	G	1: 65,060,550 (GRCm39)	C156R	probably damaging	Het
Arhgap11a	G	A	2: 113,664,423 (GRCm39)	T620M	probably benign	Het
Brinp1	A	G	4: 68,681,198 (GRCm39)	I444T	possibly damaging	Het
Ccdc150	A	G	1: 54,394,913 (GRCm39)	I760V	probably benign	Het
Cdh26	G	A	2: 178,102,435 (GRCm39)		probably benign	Het
Cpd	A	G	11: 76,731,441 (GRCm39)	L255P	probably damaging	Het
Cyfip2	A	G	11: 46,144,845 (GRCm39)	Y670H	probably damaging	Het
Disp2	G	A	2: 118,620,643 (GRCm39)	M458I	probably benign	Het
Dot1l	T	C	10: 80,620,918 (GRCm39)	I563T	probably damaging	Het
Egf	A	T	3: 129,484,442 (GRCm39)	S1001T	probably benign	Het
Elfn1	A	G	5: 139,957,764 (GRCm39)	Y256C	probably damaging	Het
Exoc4	C	T	6: 33,839,139 (GRCm39)	T725I	probably benign	Het
Fam168b	A	G	1: 34,859,063 (GRCm39)	V72A	possibly damaging	Het
Fbxw20	C	T	9: 109,046,631 (GRCm39)	S443N	probably damaging	Het
Flrt2	T	C	12: 95,747,003 (GRCm39)	V447A	possibly damaging	Het
Gm4846	A	G	1: 166,323,550 (GRCm39)	S58P	probably damaging	Het
Gpr20	T	C	15: 73,567,585 (GRCm39)	N268S	probably benign	Het
Lpcat2b	T	C	5: 107,581,865 (GRCm39)	L398P	possibly damaging	Het
Mapk8ip3	G	A	17: 25,123,761 (GRCm39)	P587L	probably damaging	Het
Mfap4	C	A	11: 61,376,335 (GRCm39)		probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mrpl38	T	C	11: 116,023,278 (GRCm39)	D325G	probably damaging	Het
Mtmr12	A	G	15: 12,270,132 (GRCm39)	E430G	probably damaging	Het
Mup18	T	A	4: 61,590,154 (GRCm39)	I125F	possibly damaging	Het
Ogdhl	A	G	14: 32,047,842 (GRCm39)	R31G	probably benign	Het
Or13f5	A	T	4: 52,825,399 (GRCm39)	M1L	probably benign	Het
Pcdh1	C	A	18: 38,330,913 (GRCm39)	V697L	probably benign	Het
Pcdhga9	T	C	18: 37,871,553 (GRCm39)	Y461H	probably damaging	Het
Pdzrn4	A	G	15: 92,667,723 (GRCm39)	Y625C	probably damaging	Het
Pkd2l1	C	A	19: 44,142,573 (GRCm39)	A490S	probably damaging	Het
Poglut2	A	C	1: 44,149,180 (GRCm39)	F453V	probably damaging	Het
Ptprn	T	A	1: 75,228,931 (GRCm39)	D828V	possibly damaging	Het
Rgs12	T	A	5: 35,177,700 (GRCm39)	W97R	probably damaging	Het
Rnf10	T	A	5: 115,386,762 (GRCm39)	Q508L	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sec24b	A	T	3: 129,834,413 (GRCm39)	S126T	possibly damaging	Het
Slc6a5	A	G	7: 49,561,768 (GRCm39)	N100S	probably benign	Het
Speer1j	T	C	5: 11,553,798 (GRCm39)	S7P	probably benign	Het
Stam2	A	T	2: 52,605,716 (GRCm39)	D167E	probably benign	Het
Stambp	G	A	6: 83,538,960 (GRCm39)	Q147*	probably null	Het
Tbc1d32	A	G	10: 56,047,000 (GRCm39)	V556A	possibly damaging	Het
Tll2	T	C	19: 41,087,075 (GRCm39)	D592G	probably benign	Het
Tmem199	A	T	11: 78,400,508 (GRCm39)		probably benign	Het
Traip	T	A	9: 107,847,218 (GRCm39)	N352K	probably benign	Het
Trmt1l	C	T	1: 151,329,799 (GRCm39)	Q581*	probably null	Het
Usp54	C	A	14: 20,600,406 (GRCm39)	A1444S	probably benign	Het
Vsig1	G	T	X: 139,827,135 (GRCm39)	A95S	probably benign	Het
Xdh	G	A	17: 74,225,389 (GRCm39)	T471I	probably damaging	Het
Zdhhc19	A	G	16: 32,316,494 (GRCm39)	D83G	probably damaging	Het
Zfp352	A	G	4: 90,113,318 (GRCm39)	K486R	probably benign	Het
Zfp451	A	G	1: 33,841,752 (GRCm39)		probably benign	Het
Zfp963	A	T	8: 70,195,944 (GRCm39)	S170T	probably benign	Het
Zfp970	A	G	2: 177,167,961 (GRCm39)	I512V	probably benign	Het
Zfp990	A	G	4: 145,263,616 (GRCm39)	I205V	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
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
R4445:Flacc1	UTSW	1	58,706,080 (GRCm39)	missense	possibly damaging	0.83
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'- TCACAGCTGGCTCTGAGAAAG -3'
(R):5'- TGTTTCCCAGCATGGTCTATAC -3'

Sequencing Primer
(F):5'- TGGCTCTGAGAAAGGCTGC -3'
(R):5'- AGCATGGTCTATACATTTTCCATTGC -3'

Posted On

2015-10-08