Mutagenetix > Incidental Mutation

Incidental Mutation 'R3948:Fbxo38'

307802

Institutional Source

Beutler Lab

Gene Symbol

Fbxo38

Ensembl Gene

ENSMUSG00000042211

Gene Name

F-box protein 38

Synonyms

SP329, 6030410I24Rik

MMRRC Submission

040928-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3948 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62637226-62681766 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 62662615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000047541 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048688]

AlphaFold

Q8BMI0

Predicted Effect

probably benign
Transcript: ENSMUST00000048688

SMART Domains

Protein: ENSMUSP00000047541
Gene: ENSMUSG00000042211

Domain	Start	End	E-Value	Type
Pfam:F-box	29	66	2.6e-5	PFAM
SCOP:d1fqva2	127	357	6e-4	SMART
low complexity region	493	525	N/A	INTRINSIC
low complexity region	598	610	N/A	INTRINSIC
low complexity region	705	728	N/A	INTRINSIC
low complexity region	736	753	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat1	A	G	4: 49,447,477 (GRCm39)	L368P	possibly damaging	Het
Adgrg4	C	T	X: 55,963,114 (GRCm39)	T1561I	probably benign	Het
Ankrd50	A	G	3: 38,536,990 (GRCm39)	L121S	possibly damaging	Het
Arfgef1	CAGAG	CAG	1: 10,212,811 (GRCm39)		probably null	Het
Avil	A	G	10: 126,850,074 (GRCm39)	S642G	probably benign	Het
Avl9	T	C	6: 56,705,650 (GRCm39)		probably null	Het
Dhx15	T	C	5: 52,318,922 (GRCm39)		probably benign	Het
Disc1	A	G	8: 125,814,874 (GRCm39)	E246G	probably damaging	Het
Dyrk4	A	G	6: 126,862,268 (GRCm39)	I408T	probably damaging	Het
H2-T24	T	C	17: 36,328,264 (GRCm39)	Y73C	probably damaging	Het
Hal	T	C	10: 93,325,769 (GRCm39)	I94T	possibly damaging	Het
Iqsec3	A	T	6: 121,364,783 (GRCm39)	Y835*	probably null	Het
Irak3	T	A	10: 120,006,278 (GRCm39)	M213L	probably benign	Het
Kcnj2	A	G	11: 110,963,481 (GRCm39)	D291G	possibly damaging	Het
Krtap13	A	G	16: 88,547,957 (GRCm39)	L177P	possibly damaging	Het
Mios	A	G	6: 8,215,496 (GRCm39)	T231A	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Odr4	A	T	1: 150,264,308 (GRCm39)	L67*	probably null	Het
Or4c122	A	G	2: 89,079,336 (GRCm39)	F234S	possibly damaging	Het
Pramel30	A	C	4: 144,057,876 (GRCm39)	Q161P	probably benign	Het
Ralgapa1	C	A	12: 55,745,552 (GRCm39)	V1268F	probably damaging	Het
Rev1	A	T	1: 38,113,414 (GRCm39)	M551K	possibly damaging	Het
Serpinb9c	A	C	13: 33,334,077 (GRCm39)	C322G	probably benign	Het
Slc28a3	C	T	13: 58,710,824 (GRCm39)		probably null	Het
Slc35e4	A	T	11: 3,862,970 (GRCm39)	V73E	probably damaging	Het
Ssh2	A	G	11: 77,289,082 (GRCm39)	D88G	probably damaging	Het
Trim5	G	A	7: 103,915,727 (GRCm39)	Q273*	probably null	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Vps13d	G	A	4: 144,867,910 (GRCm39)	T1974M	probably damaging	Het
Wdr25	T	A	12: 108,993,208 (GRCm39)	C475S	probably benign	Het
Zfp202	C	A	9: 40,119,721 (GRCm39)	H175N	probably benign	Het
Zfp248	TTAAATTCAT	TT	6: 118,407,155 (GRCm39)		probably null	Het

Other mutations in Fbxo38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00911:Fbxo38	APN	18	62,663,871 (GRCm39)	missense	possibly damaging	0.59
IGL01384:Fbxo38	APN	18	62,655,487 (GRCm39)	missense	probably damaging	0.98
IGL01443:Fbxo38	APN	18	62,666,741 (GRCm39)	missense	probably damaging	1.00
IGL01515:Fbxo38	APN	18	62,651,642 (GRCm39)	missense	probably benign	0.00
IGL01621:Fbxo38	APN	18	62,655,595 (GRCm39)	splice site	probably benign
IGL01975:Fbxo38	APN	18	62,648,484 (GRCm39)	missense	probably damaging	1.00
IGL02148:Fbxo38	APN	18	62,669,298 (GRCm39)	missense	probably benign	0.02
IGL02390:Fbxo38	APN	18	62,666,660 (GRCm39)	missense	probably damaging	1.00
IGL03040:Fbxo38	APN	18	62,660,323 (GRCm39)	missense	probably damaging	1.00
IGL03088:Fbxo38	APN	18	62,655,543 (GRCm39)	missense	possibly damaging	0.86
IGL03290:Fbxo38	APN	18	62,659,234 (GRCm39)	missense	probably benign	0.08
FR4976:Fbxo38	UTSW	18	62,648,418 (GRCm39)	small deletion	probably benign
R0526:Fbxo38	UTSW	18	62,639,051 (GRCm39)	missense	probably damaging	1.00
R0529:Fbxo38	UTSW	18	62,639,057 (GRCm39)	missense	probably damaging	1.00
R0789:Fbxo38	UTSW	18	62,648,570 (GRCm39)	missense	possibly damaging	0.84
R1232:Fbxo38	UTSW	18	62,643,882 (GRCm39)	missense	probably damaging	1.00
R1857:Fbxo38	UTSW	18	62,648,489 (GRCm39)	missense	probably damaging	1.00
R1859:Fbxo38	UTSW	18	62,648,489 (GRCm39)	missense	probably damaging	1.00
R1872:Fbxo38	UTSW	18	62,650,094 (GRCm39)	missense	probably benign	0.01
R2114:Fbxo38	UTSW	18	62,639,711 (GRCm39)	missense	possibly damaging	0.71
R2910:Fbxo38	UTSW	18	62,652,878 (GRCm39)	missense	probably benign	0.01
R2911:Fbxo38	UTSW	18	62,652,878 (GRCm39)	missense	probably benign	0.01
R3406:Fbxo38	UTSW	18	62,647,914 (GRCm39)	missense	probably damaging	0.99
R3731:Fbxo38	UTSW	18	62,648,399 (GRCm39)	small deletion	probably benign
R3792:Fbxo38	UTSW	18	62,666,533 (GRCm39)	splice site	probably null
R3848:Fbxo38	UTSW	18	62,648,144 (GRCm39)	missense	possibly damaging	0.87
R4151:Fbxo38	UTSW	18	62,648,399 (GRCm39)	small deletion	probably benign
R4323:Fbxo38	UTSW	18	62,648,232 (GRCm39)	missense	probably benign
R4456:Fbxo38	UTSW	18	62,659,320 (GRCm39)	missense	probably damaging	1.00
R4786:Fbxo38	UTSW	18	62,662,745 (GRCm39)	missense	probably damaging	1.00
R4829:Fbxo38	UTSW	18	62,651,662 (GRCm39)	missense	probably benign
R4959:Fbxo38	UTSW	18	62,655,578 (GRCm39)	missense	probably benign	0.45
R5274:Fbxo38	UTSW	18	62,648,140 (GRCm39)	missense	probably damaging	0.98
R5288:Fbxo38	UTSW	18	62,674,042 (GRCm39)	missense	probably benign
R5384:Fbxo38	UTSW	18	62,674,042 (GRCm39)	missense	probably benign
R5385:Fbxo38	UTSW	18	62,674,042 (GRCm39)	missense	probably benign
R5448:Fbxo38	UTSW	18	62,655,528 (GRCm39)	missense	possibly damaging	0.59
R5540:Fbxo38	UTSW	18	62,647,864 (GRCm39)	critical splice donor site	probably null
R5588:Fbxo38	UTSW	18	62,659,248 (GRCm39)	missense	probably damaging	1.00
R5617:Fbxo38	UTSW	18	62,639,042 (GRCm39)	missense	probably damaging	1.00
R5636:Fbxo38	UTSW	18	62,644,089 (GRCm39)	missense	possibly damaging	0.80
R5769:Fbxo38	UTSW	18	62,648,036 (GRCm39)	missense	probably benign	0.10
R6254:Fbxo38	UTSW	18	62,638,571 (GRCm39)	splice site	probably null
R6315:Fbxo38	UTSW	18	62,669,218 (GRCm39)	nonsense	probably null
R6517:Fbxo38	UTSW	18	62,666,634 (GRCm39)	missense	probably damaging	1.00
R6673:Fbxo38	UTSW	18	62,666,986 (GRCm39)	missense	probably damaging	1.00
R6974:Fbxo38	UTSW	18	62,639,740 (GRCm39)	missense	possibly damaging	0.95
R7022:Fbxo38	UTSW	18	62,669,295 (GRCm39)	missense	probably damaging	1.00
R7175:Fbxo38	UTSW	18	62,648,544 (GRCm39)	missense	probably benign	0.11
R8013:Fbxo38	UTSW	18	62,663,882 (GRCm39)	missense	possibly damaging	0.63
R8815:Fbxo38	UTSW	18	62,666,587 (GRCm39)	missense	probably damaging	1.00
R8885:Fbxo38	UTSW	18	62,659,272 (GRCm39)	missense	probably damaging	0.99
R9240:Fbxo38	UTSW	18	62,651,632 (GRCm39)	nonsense	probably null
R9427:Fbxo38	UTSW	18	62,644,160 (GRCm39)	missense	probably benign	0.00
R9750:Fbxo38	UTSW	18	62,674,061 (GRCm39)	missense	probably benign	0.14
R9796:Fbxo38	UTSW	18	62,674,055 (GRCm39)	missense	possibly damaging	0.92
Z1177:Fbxo38	UTSW	18	62,648,535 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAAGGAATACTAGCCTGTGC -3'
(R):5'- AAAAGCTTGGAGCCCAGAC -3'

Sequencing Primer
(F):5'- GCCTGTGCTCATGGATACTTAC -3'
(R):5'- AGACAACCACCAATAGTCTGTC -3'

Posted On

2015-04-17