Mutagenetix > Incidental Mutation

Incidental Mutation 'R1232:Fbxo38'

152333

Institutional Source

Beutler Lab

Gene Symbol

Fbxo38

Ensembl Gene

ENSMUSG00000042211

Gene Name

F-box protein 38

Synonyms

SP329, 6030410I24Rik

MMRRC Submission

039301-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1232 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62637226-62681766 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62643882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 925 (V925A)

Ref Sequence

ENSEMBL: ENSMUSP00000047541 (fasta)

Gene Model

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

AlphaFold

Q8BMI0

Predicted Effect

probably damaging
Transcript: ENSMUST00000048688
AA Change: V925A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047541
Gene: ENSMUSG00000042211
AA Change: V925A

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: 99.1%
3x: 98.0%
10x: 95.0%
20x: 88.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	A	1: 156,469,300 (GRCm39)	L751M	probably damaging	Het
Arhgap29	A	G	3: 121,796,989 (GRCm39)	D525G	probably damaging	Het
Ccdc168	T	C	1: 44,095,752 (GRCm39)	Y1782C	possibly damaging	Het
Ces2h	T	C	8: 105,741,287 (GRCm39)	M93T	probably benign	Het
Cyp4a12b	A	T	4: 115,289,760 (GRCm39)	D209V	possibly damaging	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Glp1r	A	C	17: 31,137,905 (GRCm39)	H112P	probably benign	Het
Gtf3c5	A	G	2: 28,461,227 (GRCm39)	W296R	probably damaging	Het
Ints8	A	G	4: 11,234,587 (GRCm39)	I415T	possibly damaging	Het
Krt1c	A	G	15: 101,720,219 (GRCm39)	S513P	probably damaging	Het
Loxhd1	G	A	18: 77,493,699 (GRCm39)		probably null	Het
Mfsd3	A	G	15: 76,587,382 (GRCm39)	Q355R	probably damaging	Het
Mms22l	C	T	4: 24,536,274 (GRCm39)	T621I	probably benign	Het
Or8g54	G	A	9: 39,707,264 (GRCm39)	V198I	probably benign	Het
Pcdhb8	A	G	18: 37,488,828 (GRCm39)	N169D	probably benign	Het
Rnls	T	G	19: 33,180,046 (GRCm39)	I135L	probably benign	Het
Sgsm1	G	T	5: 113,421,577 (GRCm39)	C558*	probably null	Het
Spata31d1c	T	A	13: 65,184,428 (GRCm39)	C657S	probably benign	Het
Vmn2r15	T	C	5: 109,441,168 (GRCm39)	D230G	probably benign	Het
Zfp429	T	C	13: 67,538,751 (GRCm39)	Y231C	possibly damaging	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
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
R3948:Fbxo38	UTSW	18	62,662,615 (GRCm39)	splice site	probably benign
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'- TCTCATGCCATGAAGCTGCTCC -3'
(R):5'- CTGTGATTGAAGATGACCACGTACAGG -3'

Sequencing Primer
(F):5'- gcaaagcagcaaacactctac -3'
(R):5'- CACGTACAGGTAAAGAAGAAAGCTC -3'

Posted On

2014-01-29