Mutagenetix > Incidental Mutation

Incidental Mutation 'R9298:Fau'

704761

Institutional Source

Beutler Lab

Gene Symbol

Fau

Ensembl Gene

ENSMUSG00000038274

Gene Name

FAU ubiquitin like and ribosomal protein S30 fusion

Synonyms

MNSFbeta, monoclonal nonspecific suppressor factor beta, MNSFB, Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed (fox derived)

MMRRC Submission

068963-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R9298 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6107977-6109554 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 6108297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 6 (R6H)

Ref Sequence

ENSEMBL: ENSMUSP00000042835 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007482] [ENSMUST00000025713] [ENSMUST00000025723] [ENSMUST00000043074] [ENSMUST00000113543] [ENSMUST00000134667] [ENSMUST00000138532] [ENSMUST00000156550] [ENSMUST00000159084] [ENSMUST00000161090] [ENSMUST00000161718] [ENSMUST00000162726] [ENSMUST00000178310] [ENSMUST00000179142]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000007482

SMART Domains

Protein: ENSMUSP00000007482
Gene: ENSMUSG00000007338

Domain	Start	End	E-Value	Type
Pfam:Img2	82	166	5.1e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000025713

SMART Domains

Protein: ENSMUSP00000025713
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
Pfam:ERG4_ERG24	7	418	1.6e-141	PFAM
Pfam:DUF1295	250	409	9.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000025723

SMART Domains

Protein: ENSMUSP00000025723
Gene: ENSMUSG00000024807

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
transmembrane domain	45	67	N/A	INTRINSIC
transmembrane domain	103	120	N/A	INTRINSIC
transmembrane domain	124	146	N/A	INTRINSIC
transmembrane domain	159	181	N/A	INTRINSIC
RING	240	278	4.7e-10	SMART
low complexity region	286	357	N/A	INTRINSIC
low complexity region	365	426	N/A	INTRINSIC
low complexity region	488	528	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000043074
AA Change: R6H

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

SMART Domains

Protein: ENSMUSP00000042835
Gene: ENSMUSG00000038274
AA Change: R6H

Domain	Start	End	E-Value	Type
UBQ	1	70	2.55e-20	SMART
Pfam:Ribosomal_S30	75	133	9.4e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113543

SMART Domains

Protein: ENSMUSP00000109171
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
Pfam:ERG4_ERG24	7	373	9.9e-112	PFAM
Pfam:DUF1295	249	396	2.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134667

SMART Domains

Protein: ENSMUSP00000114960
Gene: ENSMUSG00000024807

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
transmembrane domain	45	67	N/A	INTRINSIC
transmembrane domain	103	120	N/A	INTRINSIC
transmembrane domain	133	155	N/A	INTRINSIC
transmembrane domain	170	192	N/A	INTRINSIC
transmembrane domain	213	235	N/A	INTRINSIC
RING	291	329	9.74e-8	SMART
low complexity region	337	408	N/A	INTRINSIC
low complexity region	416	477	N/A	INTRINSIC
low complexity region	539	579	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138532

SMART Domains

Protein: ENSMUSP00000114843
Gene: ENSMUSG00000024807

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
transmembrane domain	45	67	N/A	INTRINSIC
transmembrane domain	103	120	N/A	INTRINSIC
transmembrane domain	133	155	N/A	INTRINSIC
transmembrane domain	170	192	N/A	INTRINSIC
transmembrane domain	213	235	N/A	INTRINSIC
RING	291	329	9.74e-8	SMART
low complexity region	337	408	N/A	INTRINSIC
low complexity region	416	477	N/A	INTRINSIC
low complexity region	539	579	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156550

SMART Domains

Protein: ENSMUSP00000121885
Gene: ENSMUSG00000024807

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
transmembrane domain	45	67	N/A	INTRINSIC
transmembrane domain	103	120	N/A	INTRINSIC
transmembrane domain	133	155	N/A	INTRINSIC
transmembrane domain	170	192	N/A	INTRINSIC
transmembrane domain	213	235	N/A	INTRINSIC
RING	291	329	9.74e-8	SMART
low complexity region	337	408	N/A	INTRINSIC
low complexity region	416	477	N/A	INTRINSIC
low complexity region	539	573	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159084

SMART Domains

Protein: ENSMUSP00000124868
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
Pfam:ERG4_ERG24	7	300	6.4e-75	PFAM
Pfam:ERG4_ERG24	292	391	2.2e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161090

SMART Domains

Protein: ENSMUSP00000125543
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	57	79	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161718

SMART Domains

Protein: ENSMUSP00000124283
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
Pfam:ERG4_ERG24	1	197	5.7e-86	PFAM
Pfam:DUF1295	46	185	1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162726

SMART Domains

Protein: ENSMUSP00000134031
Gene: ENSMUSG00000075227

Domain	Start	End	E-Value	Type
Pfam:zf-HIT	3	36	2e-15	PFAM
low complexity region	54	97	N/A	INTRINSIC
low complexity region	120	140	N/A	INTRINSIC
low complexity region	167	205	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178310
AA Change: R6H

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

SMART Domains

Protein: ENSMUSP00000136803
Gene: ENSMUSG00000038274
AA Change: R6H

Domain	Start	End	E-Value	Type
UBQ	1	70	2.55e-20	SMART
Pfam:Ribosomal_S30	75	133	9.4e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179142
AA Change: R6H

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

SMART Domains

Protein: ENSMUSP00000136358
Gene: ENSMUSG00000038274
AA Change: R6H

Domain	Start	End	E-Value	Type
UBQ	1	70	2.55e-20	SMART
Pfam:Ribosomal_S30	75	132	6.7e-34	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is the cellular homolog of the fox sequence in the Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV). It encodes a fusion protein consisting of the ubiquitin-like protein fubi at the N terminus and ribosomal protein S30 at the C terminus. It has been proposed that the fusion protein is post-translationally processed to generate free fubi and free ribosomal protein S30. Fubi is a member of the ubiquitin family, and ribosomal protein S30 belongs to the S30E family of ribosomal proteins. Whereas the function of fubi is currently unknown, ribosomal protein S30 is a component of the 40S subunit of the cytoplasmic ribosome and displays antimicrobial activity. Pseudogenes derived from this gene are present in the genome. Similar to ribosomal protein S30, ribosomal proteins S27a and L40 are synthesized as fusion proteins with ubiquitin. [provided by RefSeq, Nov 2014]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	C	A	8: 73,198,923 (GRCm39)	A110D	probably benign	Het
4930407I10Rik	A	G	15: 81,947,615 (GRCm39)	E504G	probably benign	Het
Apbb2	T	C	5: 66,609,018 (GRCm39)	K210E	probably benign	Het
Arhgef37	G	T	18: 61,651,072 (GRCm39)	A151D	probably damaging	Het
Btaf1	A	G	19: 36,964,114 (GRCm39)	Y895C	probably benign	Het
Catsperb	A	G	12: 101,560,600 (GRCm39)	I864V	possibly damaging	Het
Cdhr17	T	A	5: 16,996,855 (GRCm39)	C10*	probably null	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Col18a1	G	A	10: 76,893,204 (GRCm39)	T1057M	probably damaging	Het
Col1a2	T	A	6: 4,515,260 (GRCm39)		probably null	Het
Col6a4	A	G	9: 105,945,534 (GRCm39)	I860T	probably damaging	Het
Csmd3	A	C	15: 47,617,187 (GRCm39)	H1000Q		Het
Cyp4a29	T	A	4: 115,108,395 (GRCm39)	M373K	probably damaging	Het
Dnhd1	A	G	7: 105,333,173 (GRCm39)	E215G	probably damaging	Het
Dop1b	A	G	16: 93,597,087 (GRCm39)	E1972G	probably damaging	Het
Dusp19	T	C	2: 80,447,729 (GRCm39)	M1T	probably null	Het
Eif4b	A	G	15: 101,990,449 (GRCm39)	T18A	possibly damaging	Het
Exosc6	G	A	8: 111,783,513 (GRCm39)	A171T	probably damaging	Het
Flrt3	T	C	2: 140,501,879 (GRCm39)	D583G	probably damaging	Het
Fpgt	A	T	3: 154,792,695 (GRCm39)	L444*	probably null	Het
Gm10226	A	G	17: 21,910,768 (GRCm39)	E1G	probably null	Het
Gm14443	A	T	2: 175,011,869 (GRCm39)	C192*	probably null	Het
Gm4353	T	A	7: 115,682,843 (GRCm39)	N246I	probably benign	Het
Igfn1	A	G	1: 135,926,327 (GRCm39)	L41P	probably benign	Het
Iigp1	T	G	18: 60,523,063 (GRCm39)	D60E	probably benign	Het
Kcnt2	T	A	1: 140,353,035 (GRCm39)	V248D	probably damaging	Het
Kctd14	A	G	7: 97,107,243 (GRCm39)	K166R	probably benign	Het
Kdm4d	G	A	9: 14,375,336 (GRCm39)	T174M	probably damaging	Het
Kdm5b	T	C	1: 134,528,493 (GRCm39)		probably null	Het
Maz	CGCGGCCTCGGCGGCTGGTGCGG	CGCGG	7: 126,625,075 (GRCm39)		probably benign	Het
Mrtfb	A	G	16: 13,202,082 (GRCm39)	Q115R	probably benign	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Or10a5	A	T	7: 106,635,640 (GRCm39)	I93F	probably damaging	Het
Or2h1b	A	T	17: 37,462,572 (GRCm39)	V97D	probably damaging	Het
Or5b95	T	A	19: 12,658,190 (GRCm39)	C239*	probably null	Het
Pigc	C	T	1: 161,798,032 (GRCm39)	R5C	probably benign	Het
Plekhm2	C	A	4: 141,356,829 (GRCm39)	M771I	probably benign	Het
Runx1	T	A	16: 92,441,147 (GRCm39)	T221S	possibly damaging	Het
S100pbp	A	G	4: 129,044,847 (GRCm39)	Y363H	probably damaging	Het
Sema5a	A	G	15: 32,619,040 (GRCm39)	T523A	probably benign	Het
Slc38a8	A	G	8: 120,212,851 (GRCm39)	F270S	possibly damaging	Het
Slc4a1ap	T	C	5: 31,693,538 (GRCm39)	S491P	probably damaging	Het
Slc66a2	T	C	18: 80,300,300 (GRCm39)	L57P	probably damaging	Het
Slc7a6	T	C	8: 106,922,534 (GRCm39)	V440A	probably damaging	Het
Sobp	A	T	10: 42,898,902 (GRCm39)	C228S	probably damaging	Het
Svop	G	A	5: 114,168,231 (GRCm39)	T456M	probably benign	Het
Synrg	A	G	11: 83,900,278 (GRCm39)	D750G	probably damaging	Het
Syt14	C	A	1: 192,612,944 (GRCm39)	E336*	probably null	Het
Tcp11l1	C	T	2: 104,528,897 (GRCm39)	V134I	possibly damaging	Het
Tex51	T	C	18: 32,594,029 (GRCm39)	R110G	possibly damaging	Het
Tle3	T	A	9: 61,319,562 (GRCm39)	H443Q	possibly damaging	Het
Unc13a	C	T	8: 72,108,335 (GRCm39)	R506Q	possibly damaging	Het
Vmn1r121	A	C	7: 20,832,344 (GRCm39)	V32G	probably damaging	Het
Wiz	A	G	17: 32,580,714 (GRCm39)	F246L	probably benign	Het
Zfp672	A	T	11: 58,220,590 (GRCm39)	M3K	unknown	Het
Zfp709	A	T	8: 72,644,648 (GRCm39)	E692D	possibly damaging	Het
Zglp1	A	T	9: 20,977,482 (GRCm39)	L111Q	probably benign	Het

Other mutations in Fau

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0136:Fau	UTSW	19	6,109,210 (GRCm39)	missense	possibly damaging	0.61
R5820:Fau	UTSW	19	6,109,452 (GRCm39)	missense	probably benign	0.26
R9109:Fau	UTSW	19	6,108,297 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGTACAAGGGCGGTTCTG -3'
(R):5'- AAGCACGACTTGATCTTCGGG -3'

Sequencing Primer
(F):5'- CGGTTCTGCGGCCTTCG -3'
(R):5'- TTCCAGGGAGGCCACATGATC -3'

Posted On

2022-03-25