Mutagenetix > Incidental Mutation

Incidental Mutation 'R8476:Rfxank'

657267

Institutional Source

Beutler Lab

Gene Symbol

Rfxank

Ensembl Gene

ENSMUSG00000036120

Gene Name

regulatory factor X-associated ankyrin-containing protein

Synonyms

Tvl1

MMRRC Submission

067920-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8476 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70583444-70591804 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70590828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 13 (N13S)

Ref Sequence

ENSEMBL: ENSMUSP00000075140 (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
AA Change: N13S

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

SMART Domains

Protein: ENSMUSP00000075140
Gene: ENSMUSG00000036120
AA Change: N13S

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: N13S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000211898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (34/34)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,410,020 (GRCm39)	I176F	possibly damaging	Het
Aen	A	G	7: 78,556,947 (GRCm39)	Y123C	probably damaging	Het
Ahnak2	C	T	12: 112,747,100 (GRCm39)		probably benign	Het
Anks1	T	A	17: 28,273,292 (GRCm39)	D970E	probably damaging	Het
Atn1	C	A	6: 124,723,416 (GRCm39)		probably benign	Het
Bola1	G	A	3: 96,104,573 (GRCm39)	A7V	probably benign	Het
Ccdc172	T	A	19: 58,541,270 (GRCm39)		probably null	Het
Ceacam11	T	C	7: 17,707,618 (GRCm39)	I134T	probably benign	Het
Clec4e	A	G	6: 123,263,235 (GRCm39)	S73P	probably benign	Het
Dchs1	A	G	7: 105,408,015 (GRCm39)	I1939T	probably benign	Het
Dclk1	A	T	3: 55,441,100 (GRCm39)	E432V	probably damaging	Het
Gba2	C	T	4: 43,569,944 (GRCm39)	R423Q	probably damaging	Het
Gpr165	C	A	X: 95,757,623 (GRCm39)	D7E	probably benign	Het
Kdm3a	T	C	6: 71,588,693 (GRCm39)	K439E	probably damaging	Het
Klhdc7a	A	C	4: 139,693,051 (GRCm39)	I632S	probably damaging	Het
Krt72	A	T	15: 101,686,701 (GRCm39)	M415K	probably damaging	Het
Lax1	T	A	1: 133,611,326 (GRCm39)	H82L	probably benign	Het
Morc2b	T	A	17: 33,354,833 (GRCm39)	T980S	possibly damaging	Het
Mta2	T	A	19: 8,928,352 (GRCm39)	N550K	probably benign	Het
Or51f1	A	T	7: 102,506,152 (GRCm39)	F112L	probably benign	Het
Or6d13	T	A	6: 116,517,507 (GRCm39)	I31N	probably benign	Het
Pask	A	G	1: 93,249,361 (GRCm39)	W680R	probably benign	Het
Pcdhb13	A	T	18: 37,577,137 (GRCm39)	N505I	probably damaging	Het
Pik3cd	A	T	4: 149,736,277 (GRCm39)	M984K	probably damaging	Het
Ptprm	T	C	17: 67,251,317 (GRCm39)	Y520C	probably damaging	Het
Pum1	A	G	4: 130,480,024 (GRCm39)	S547G	possibly damaging	Het
Rabep2	C	T	7: 126,034,915 (GRCm39)	R64*	probably null	Het
Sall3	G	T	18: 81,015,333 (GRCm39)	S865*	probably null	Het
Scaper	T	A	9: 55,669,575 (GRCm39)	D854V	probably damaging	Het
Slit3	G	A	11: 35,520,596 (GRCm39)	D578N	possibly damaging	Het
Smarcd1	G	T	15: 99,600,305 (GRCm39)	G35W	probably damaging	Het
Trim24	C	T	6: 37,922,578 (GRCm39)	Q462*	probably null	Het
Ube3a	C	T	7: 58,954,575 (GRCm39)	T837I	probably damaging	Het
Vps13a	T	C	19: 16,699,821 (GRCm39)	I740M	possibly 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
R9671:Rfxank	UTSW	8	70,588,198 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAACTTGACAGTCTCCCTCACC -3'
(R):5'- GCCCCAGATAAGAACTCATTTATTC -3'

Sequencing Primer
(F):5'- CAGAGCCCAGAGTGGTTCTCAC -3'
(R):5'- TCAGAGGACAATTTACCAGGGTC -3'

Posted On

2021-01-18