Mutagenetix > Incidental Mutation

Incidental Mutation 'R9671:Rfxank'

728049

Institutional Source

Beutler Lab

Gene Symbol

Rfxank

Ensembl Gene

ENSMUSG00000036120

Gene Name

regulatory factor X-associated ankyrin-containing protein

Synonyms

Tvl1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9671 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70583444-70591804 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70588198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 118 (T118A)

Ref Sequence

ENSEMBL: ENSMUSP00000148739 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002418] [ENSMUST00000075724] [ENSMUST00000095273] [ENSMUST00000110139] [ENSMUST00000123760] [ENSMUST00000129668] [ENSMUST00000163756] [ENSMUST00000212320] [ENSMUST00000211898]

AlphaFold

Q9Z205

Predicted Effect

probably benign
Transcript: ENSMUST00000002418

SMART Domains

Protein: ENSMUSP00000002418
Gene: ENSMUSG00000002345

Domain	Start	End	E-Value	Type
Pfam:NEP	1	119	1.7e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000075724

SMART Domains

Protein: ENSMUSP00000075140
Gene: ENSMUSG00000036120

Domain	Start	End	E-Value	Type
ANK	132	161	1.36e-2	SMART
ANK	165	194	5.16e-3	SMART
ANK	198	227	7.42e-4	SMART
ANK	231	260	2.35e3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000095273

SMART Domains

Protein: ENSMUSP00000092907
Gene: ENSMUSG00000071078

Domain	Start	End	E-Value	Type
SCOP:d1jhja_	22	64	6e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110139

SMART Domains

Protein: ENSMUSP00000105766
Gene: ENSMUSG00000002345

Domain	Start	End	E-Value	Type
Pfam:NEP	1	107	2.1e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123760

SMART Domains

Protein: ENSMUSP00000118102
Gene: ENSMUSG00000002345

Domain	Start	End	E-Value	Type
Pfam:NEP	1	78	2.4e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129668

SMART Domains

Protein: ENSMUSP00000137694
Gene: ENSMUSG00000002345

Domain	Start	End	E-Value	Type
Pfam:NEP	1	78	2.4e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163756

SMART Domains

Protein: ENSMUSP00000132314
Gene: ENSMUSG00000079033

Domain	Start	End	E-Value	Type
MADS	1	60	3.15e-34	SMART
low complexity region	97	114	N/A	INTRINSIC
low complexity region	285	297	N/A	INTRINSIC
low complexity region	320	335	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000212320
AA Change: T118A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000211898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 64,055,948 (GRCm39)	L228*	probably null	Het
Acsf2	T	C	11: 94,460,802 (GRCm39)	D368G	probably benign	Het
Adat2	T	A	10: 13,438,452 (GRCm39)	N177K	probably damaging	Het
Adgrf5	G	T	17: 43,760,795 (GRCm39)	R830M	probably damaging	Het
Apoh	G	A	11: 108,286,792 (GRCm39)	W72*	probably null	Het
Bcl2l12	G	T	7: 44,642,301 (GRCm39)	P195Q	probably damaging	Het
Cacna1b	T	C	2: 24,596,282 (GRCm39)	M470V	probably benign	Het
Ccdc188	A	T	16: 18,036,268 (GRCm39)	R79*	probably null	Het
Cd34	T	A	1: 194,641,501 (GRCm39)	M309K	probably damaging	Het
Clec4a2	A	T	6: 123,101,942 (GRCm39)	K32N	possibly damaging	Het
Csmd3	G	T	15: 47,845,299 (GRCm39)	P88H		Het
Def6	A	G	17: 28,438,755 (GRCm39)	S154G	probably benign	Het
Dot1l	T	C	10: 80,620,613 (GRCm39)	L530P	probably damaging	Het
Fam13a	A	G	6: 58,951,014 (GRCm39)		probably null	Het
Fat3	G	A	9: 16,286,871 (GRCm39)	A884V	possibly damaging	Het
Frem3	C	A	8: 81,339,134 (GRCm39)	H476N	probably benign	Het
Gm3404	T	C	5: 146,463,031 (GRCm39)	V71A	probably benign	Het
Hnf4g	T	G	3: 3,703,273 (GRCm39)	S53R	probably benign	Het
Ighv13-2	T	C	12: 114,321,796 (GRCm39)	N15D	probably benign	Het
Jak1	T	C	4: 101,034,926 (GRCm39)	K339E	possibly damaging	Het
Klhl35	C	G	7: 99,117,702 (GRCm39)	P82R	probably benign	Het
Klhl40	T	A	9: 121,607,743 (GRCm39)	V301E	probably benign	Het
Knl1	A	T	2: 118,901,089 (GRCm39)	N930I	probably damaging	Het
Ltbp1	A	G	17: 75,603,217 (GRCm39)		probably null	Het
Mapk7	T	C	11: 61,382,498 (GRCm39)	D68G	probably damaging	Het
Myo3b	A	G	2: 70,086,908 (GRCm39)	H852R	probably damaging	Het
Or51a6	A	T	7: 102,604,633 (GRCm39)	H58Q	probably benign	Het
Pkd2	A	G	5: 104,637,256 (GRCm39)	D623G	probably damaging	Het
Pramel14	A	C	4: 143,719,687 (GRCm39)	I226S	probably benign	Het
Rxrb	T	A	17: 34,252,020 (GRCm39)		probably null	Het
Sec14l3	G	A	11: 4,025,486 (GRCm39)	V337M	probably damaging	Het
Sema3e	A	G	5: 14,212,217 (GRCm39)	T98A	probably benign	Het
Ska1	A	T	18: 74,333,010 (GRCm39)	M136K	probably damaging	Het
Slc19a3	T	C	1: 83,000,297 (GRCm39)	D240G	probably benign	Het
Snph	T	C	2: 151,436,331 (GRCm39)	Y199C	probably damaging	Het
Sorl1	A	T	9: 41,943,077 (GRCm39)	I933N	possibly damaging	Het
Spag16	C	A	1: 69,883,495 (GRCm39)	H75N	probably benign	Het
Spice1	C	T	16: 44,199,671 (GRCm39)	R708C	probably benign	Het
Tet3	C	A	6: 83,381,136 (GRCm39)	S344I	possibly damaging	Het
Trav5-4	A	G	14: 53,941,816 (GRCm39)	E63G	possibly damaging	Het
Trp73	G	A	4: 154,148,403 (GRCm39)	P337L	probably benign	Het
Ttn	A	G	2: 76,778,359 (GRCm39)	F1343L	unknown	Het
Vipas39	T	C	12: 87,292,985 (GRCm39)	H320R	probably benign	Het
Vmn2r4	T	C	3: 64,317,271 (GRCm39)	I156V	probably benign	Het
Wdr81	T	C	11: 75,345,189 (GRCm39)	D26G	probably damaging	Het
Zscan4d	A	T	7: 10,898,945 (GRCm39)	F111I	probably damaging	Het

Other mutations in Rfxank

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1576:Rfxank	UTSW	8	70,586,953 (GRCm39)	missense	possibly damaging	0.95
R4303:Rfxank	UTSW	8	70,588,862 (GRCm39)	missense	probably damaging	1.00
R7033:Rfxank	UTSW	8	70,590,820 (GRCm39)	missense	probably benign
R7355:Rfxank	UTSW	8	70,587,957 (GRCm39)	missense	probably damaging	1.00
R7385:Rfxank	UTSW	8	70,587,285 (GRCm39)	missense	probably damaging	1.00
R7399:Rfxank	UTSW	8	70,587,936 (GRCm39)	splice site	probably null
R8218:Rfxank	UTSW	8	70,584,085 (GRCm39)	splice site	probably null
R8377:Rfxank	UTSW	8	70,587,960 (GRCm39)	missense	probably damaging	1.00
R8476:Rfxank	UTSW	8	70,590,828 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTCATCCGGTTTGTTGATCAG -3'
(R):5'- TAGCTCAGTTGTCAGAGTGC -3'

Sequencing Primer
(F):5'- GGTTGTTTCCTGACAAGTGGAATATG -3'
(R):5'- CCTCGTAATACTGCGAATAGTAGCG -3'

Posted On

2022-10-06