Mutagenetix > Incidental Mutation

Incidental Mutation 'R8467:Fbxl22'

668174

Institutional Source

Beutler Lab

Gene Symbol

Fbxl22

Ensembl Gene

ENSMUSG00000050503

Gene Name

F-box and leucine-rich repeat protein 22

Synonyms

1110004B15Rik

MMRRC Submission

067911-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8467 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66415657-66421891 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 66421849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000060137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056890] [ENSMUST00000098613] [ENSMUST00000127569] [ENSMUST00000139547] [ENSMUST00000174387]

AlphaFold

Q8C7B6

Predicted Effect

probably null
Transcript: ENSMUST00000056890

SMART Domains

Protein: ENSMUSP00000060137
Gene: ENSMUSG00000050503

Domain	Start	End	E-Value	Type
FBOX	6	46	4.46e-2	SMART
LRR	113	138	1.89e-1	SMART
LRR	139	164	3.44e-4	SMART
LRR	165	190	1.66e2	SMART
low complexity region	216	223	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098613

SMART Domains

Protein: ENSMUSP00000096213
Gene: ENSMUSG00000032376

Domain	Start	End	E-Value	Type
Pfam:zf-UBP	29	107	6.6e-23	PFAM
low complexity region	135	150	N/A	INTRINSIC
Pfam:UCH	158	188	1.1e-8	PFAM
Pfam:UCH	178	470	4.2e-54	PFAM
Pfam:UCH_1	193	452	3.4e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127569

SMART Domains

Protein: ENSMUSP00000122199
Gene: ENSMUSG00000032376

Domain	Start	End	E-Value	Type
Pfam:zf-UBP	29	107	1.2e-22	PFAM
low complexity region	135	150	N/A	INTRINSIC
Pfam:UCH	158	508	2.5e-61	PFAM
Pfam:UCH_1	206	490	2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139547

Predicted Effect

probably benign
Transcript: ENSMUST00000174387

SMART Domains

Protein: ENSMUSP00000134472
Gene: ENSMUSG00000032376

Domain	Start	End	E-Value	Type
Pfam:zf-UBP	29	142	1.6e-7	PFAM
Pfam:UCH	114	464	9.9e-69	PFAM
Pfam:UCH_1	115	446	2e-26	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apon	G	A	10: 128,091,002 (GRCm39)	V227I	probably benign	Het
Arl9	T	C	5: 77,154,446 (GRCm39)	I58T	probably damaging	Het
C4b	T	C	17: 34,951,787 (GRCm39)	T1326A	possibly damaging	Het
Cd55b	A	C	1: 130,347,501 (GRCm39)	S103R	possibly damaging	Het
Cep350	A	G	1: 155,791,321 (GRCm39)	F1268L	probably benign	Het
D17H6S53E	T	A	17: 35,346,246 (GRCm39)	D52E	probably damaging	Het
Dhx57	G	C	17: 80,561,853 (GRCm39)	P887R	probably damaging	Het
Ehd1	T	G	19: 6,331,318 (GRCm39)	S159A	probably benign	Het
Fam98a	C	A	17: 75,851,830 (GRCm39)	G84W	probably damaging	Het
Gbp11	T	A	5: 105,475,457 (GRCm39)	Y297F	probably damaging	Het
Gimap8	A	G	6: 48,627,269 (GRCm39)	H81R	probably benign	Het
Gpd2	A	G	2: 57,254,596 (GRCm39)	E680G	possibly damaging	Het
Grid2	A	G	6: 64,510,635 (GRCm39)	D755G	probably benign	Het
Hivep3	T	C	4: 119,952,238 (GRCm39)	Y185H	probably damaging	Het
Hunk	A	G	16: 90,293,508 (GRCm39)	R597G	probably damaging	Het
Igfbp3	A	G	11: 7,163,523 (GRCm39)	C90R	probably damaging	Het
Il7r	T	C	15: 9,512,973 (GRCm39)	T179A	probably benign	Het
Iqsec3	G	A	6: 121,358,676 (GRCm39)	T1003I	probably benign	Het
Kif13b	A	T	14: 64,996,154 (GRCm39)	D980V	probably damaging	Het
Kif21b	A	G	1: 136,100,021 (GRCm39)	D1525G	probably damaging	Het
Lgsn	A	G	1: 31,242,731 (GRCm39)	E271G	probably benign	Het
Lrp1	G	A	10: 127,394,519 (GRCm39)	R2565C	probably damaging	Het
Marchf10	A	T	11: 105,280,979 (GRCm39)	Y435*	probably null	Het
Msantd5	A	G	11: 51,125,105 (GRCm39)	I108V	possibly damaging	Het
Mup9	C	T	4: 60,376,481 (GRCm39)		probably null	Het
Myo6	T	A	9: 80,136,168 (GRCm39)	V97E	probably damaging	Het
Nobox	G	T	6: 43,282,479 (GRCm39)	D309E	probably benign	Het
Nup155	A	G	15: 8,151,015 (GRCm39)	D355G	probably benign	Het
Or6n1	A	T	1: 173,917,007 (GRCm39)	T134S	probably benign	Het
Otud7b	A	G	3: 96,062,993 (GRCm39)	D744G	probably benign	Het
Phgdh	A	G	3: 98,228,627 (GRCm39)	V182A	probably benign	Het
Scarb1	A	T	5: 125,375,731 (GRCm39)	I231N	probably damaging	Het
Scn9a	A	G	2: 66,332,015 (GRCm39)	L1276P	probably damaging	Het
Smarca2	T	A	19: 26,597,121 (GRCm39)	M1K	probably null	Het
Sp3	G	A	2: 72,801,482 (GRCm39)	T177I	possibly damaging	Het
Vmn1r21	A	T	6: 57,821,441 (GRCm39)	M1K	probably null	Het
Zfyve16	A	T	13: 92,644,790 (GRCm39)	H1137Q	probably damaging	Het

Other mutations in Fbxl22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R7832:Fbxl22	UTSW	9	66,418,999 (GRCm39)	missense	probably benign	0.00
R8356:Fbxl22	UTSW	9	66,421,732 (GRCm39)	missense	possibly damaging	0.82
R8485:Fbxl22	UTSW	9	66,421,849 (GRCm39)	splice site	probably null
Z1176:Fbxl22	UTSW	9	66,419,170 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TCTTTCTTGAGCTCTGCGAG -3'
(R):5'- TTCAATGGGCTGCTCTTCTG -3'

Sequencing Primer
(F):5'- TCTGCGAGAGAATGGAAGTGC -3'
(R):5'- TCTGCCAGGACTTTCAGGC -3'

Posted On

2021-03-19