Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01975:Fbxo38'

182650

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fbxo38

Ensembl Gene

ENSMUSG00000042211

Gene Name

F-box protein 38

Synonyms

SP329, 6030410I24Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01975

Quality Score

Status

Chromosome

Chromosomal Location

62637226-62681766 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 62648484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 685 (A685T)

Ref Sequence

ENSEMBL: ENSMUSP00000047541 (fasta)

Gene Model

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

AlphaFold

Q8BMI0

Predicted Effect

probably damaging
Transcript: ENSMUST00000048688
AA Change: A685T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047541
Gene: ENSMUSG00000042211
AA Change: A685T

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	C	T	5: 8,217,396 (GRCm39)	C133Y	probably damaging	Het
Akap3	G	T	6: 126,850,963 (GRCm39)	S827I	probably damaging	Het
Arhgap20	C	T	9: 51,761,097 (GRCm39)	Q947*	probably null	Het
Csf2rb2	A	G	15: 78,173,086 (GRCm39)	I258T	probably benign	Het
Egln2	T	C	7: 26,859,745 (GRCm39)	I323V	possibly damaging	Het
Erlin1	C	A	19: 44,025,370 (GRCm39)	G348V	probably damaging	Het
Gm10272	G	A	10: 77,542,608 (GRCm39)	C50Y	probably damaging	Het
Gm11559	G	T	11: 99,755,682 (GRCm39)	Q110H	unknown	Het
Gpr75	T	C	11: 30,841,835 (GRCm39)	S247P	probably benign	Het
Grid1	A	T	14: 35,045,383 (GRCm39)	M409L	probably benign	Het
Herc3	A	C	6: 58,893,561 (GRCm39)	D941A	possibly damaging	Het
Ilf3	T	A	9: 21,303,675 (GRCm39)	S166T	probably benign	Het
Kcnu1	A	C	8: 26,424,525 (GRCm39)	E273D	probably benign	Het
Kdm8	A	G	7: 125,051,529 (GRCm39)	S41G	probably benign	Het
Ldlr	G	A	9: 21,644,993 (GRCm39)	V174I	probably benign	Het
Lpar5	T	C	6: 125,058,750 (GRCm39)	L157P	probably damaging	Het
Mcrs1	A	G	15: 99,141,559 (GRCm39)		probably null	Het
Ndst3	T	A	3: 123,395,163 (GRCm39)	Y489F	possibly damaging	Het
Or6c69c	A	G	10: 129,911,139 (GRCm39)	I287V	probably damaging	Het
Palmd	A	T	3: 116,717,283 (GRCm39)	S405T	probably benign	Het
Ptger1	T	C	8: 84,396,149 (GRCm39)		probably benign	Het
Rbp3	A	T	14: 33,680,602 (GRCm39)	K1068M	probably damaging	Het
Rimbp2	T	C	5: 128,874,712 (GRCm39)	D293G	probably benign	Het
Rnf20	T	A	4: 49,654,473 (GRCm39)	D843E	probably benign	Het
Rxfp1	A	G	3: 79,567,385 (GRCm39)	S322P	possibly damaging	Het
Slc22a8	T	A	19: 8,582,775 (GRCm39)	I152N	probably damaging	Het
Slc6a21	T	A	7: 44,937,275 (GRCm39)	D268E	probably benign	Het
Sstr1	A	G	12: 58,260,412 (GRCm39)	N345S	probably benign	Het
Stx17	T	C	4: 48,180,670 (GRCm39)	S172P	probably damaging	Het
Syne1	A	G	10: 5,018,908 (GRCm39)		probably benign	Het
Tpte	A	G	8: 22,839,353 (GRCm39)	T467A	probably damaging	Het
Trappc12	A	G	12: 28,742,491 (GRCm39)		probably null	Het
Trav13-2	A	T	14: 53,872,823 (GRCm39)	T100S	possibly damaging	Het
Trip12	A	G	1: 84,792,534 (GRCm39)		probably benign	Het
Wdr36	A	G	18: 32,985,541 (GRCm39)	H486R	probably damaging	Het
Zswim5	T	C	4: 116,822,889 (GRCm39)	I453T	probably benign	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
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
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

Posted On

2014-05-07