Mutagenetix > Incidental Mutation

Incidental Mutation 'R8377:Rfxank'

646751

Institutional Source

Beutler Lab

Gene Symbol

Rfxank

Ensembl Gene

ENSMUSG00000036120

Gene Name

regulatory factor X-associated ankyrin-containing protein

Synonyms

Tvl1

MMRRC Submission

067745-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8377 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70583444-70591804 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70587960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 149 (V149D)

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 damaging
Transcript: ENSMUST00000075724
AA Change: V139D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075140
Gene: ENSMUSG00000036120
AA Change: V139D

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 damaging
Transcript: ENSMUST00000212320
AA Change: V149D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000211898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot3	C	A	12: 84,105,561 (GRCm39)	C251*	probably null	Het
Acsbg1	A	G	9: 54,529,789 (GRCm39)	C273R	probably damaging	Het
Adh6a	A	G	3: 138,031,884 (GRCm39)	T259A	probably damaging	Het
Aknad1	A	G	3: 108,689,255 (GRCm39)	H639R	possibly damaging	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Ampd3	A	G	7: 110,399,937 (GRCm39)	R342G	probably damaging	Het
Arid5b	G	T	10: 67,933,217 (GRCm39)	A895E	probably damaging	Het
BB014433	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	8: 15,092,160 (GRCm39)		probably benign	Het
Bmp8a	G	T	4: 123,236,482 (GRCm39)	P7Q	unknown	Het
Boll	A	C	1: 55,362,837 (GRCm39)	V187G	possibly damaging	Het
Ccdc162	A	T	10: 41,457,306 (GRCm39)	C1544S	probably benign	Het
Cmss1	A	C	16: 57,127,757 (GRCm39)	M182R	possibly damaging	Het
Cntn3	T	C	6: 102,186,254 (GRCm39)	M578V	probably benign	Het
Dmxl2	A	T	9: 54,286,032 (GRCm39)	W2718R	probably damaging	Het
Dsg1a	T	A	18: 20,466,831 (GRCm39)	I567N	probably damaging	Het
Epc2	T	A	2: 49,412,527 (GRCm39)	D168E	probably damaging	Het
Ern2	G	A	7: 121,780,515 (GRCm39)	Q162*	probably null	Het
F11r	G	T	1: 171,265,111 (GRCm39)		probably benign	Het
Fcgrt	T	C	7: 44,751,987 (GRCm39)	Y59C	probably damaging	Het
Fmn2	G	T	1: 174,436,011 (GRCm39)	E661*	probably null	Het
Gbp4	T	A	5: 105,266,328 (GRCm39)	Q571L	probably benign	Het
Gm29106	A	T	1: 118,126,593 (GRCm39)	H95L	probably damaging	Het
Gphn	G	A	12: 78,711,280 (GRCm39)	V621M	probably damaging	Het
Grwd1	T	C	7: 45,480,036 (GRCm39)	Y57C	probably damaging	Het
Insyn2b	C	A	11: 34,351,964 (GRCm39)	A2D	probably damaging	Het
Irs2	G	A	8: 11,054,848 (GRCm39)	Q1195*	probably null	Het
Itpr1	G	C	6: 108,487,699 (GRCm39)	C2375S	probably benign	Het
Kcnmb4	A	T	10: 116,282,290 (GRCm39)	Y136N	probably benign	Het
Matn2	C	T	15: 34,345,511 (GRCm39)	P173S	probably damaging	Het
Med17	A	C	9: 15,173,655 (GRCm39)	D606E	probably damaging	Het
Mpl	A	G	4: 118,301,254 (GRCm39)	V537A		Het
Mrpl1	C	G	5: 96,374,226 (GRCm39)	A167G	probably benign	Het
Mrpl21	T	C	19: 3,342,487 (GRCm39)	F206S	unknown	Het
Msh6	T	A	17: 88,292,598 (GRCm39)	M451K	probably damaging	Het
Myo10	T	C	15: 25,804,481 (GRCm39)	I1592T	possibly damaging	Het
Naip1	A	T	13: 100,562,374 (GRCm39)	D930E	possibly damaging	Het
Necap2	T	C	4: 140,795,534 (GRCm39)	I242V	probably benign	Het
Nfya	A	G	17: 48,699,073 (GRCm39)	V240A	possibly damaging	Het
Olfml2b	A	G	1: 170,496,353 (GRCm39)	D328G	probably damaging	Het
Or10ak13	A	T	4: 118,639,203 (GRCm39)	M193K	probably benign	Het
Or4k35	T	A	2: 111,099,983 (GRCm39)	H243L	probably damaging	Het
Or5b24	T	G	19: 12,912,399 (GRCm39)	V99G	probably benign	Het
Or5p53	T	G	7: 107,532,892 (GRCm39)	L55R	probably damaging	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Pkd1l3	T	C	8: 110,361,982 (GRCm39)	V1018A	probably benign	Het
Plcg1	T	C	2: 160,596,842 (GRCm39)	L761P	probably damaging	Het
Ppp1r36	T	C	12: 76,485,215 (GRCm39)	S313P	possibly damaging	Het
Ptpru	C	A	4: 131,535,646 (GRCm39)	G444C	probably damaging	Het
Rimbp2	G	A	5: 128,857,395 (GRCm39)	H819Y	probably damaging	Het
Sgms1	T	C	19: 32,101,821 (GRCm39)	Y395C	probably damaging	Het
Siae	G	A	9: 37,542,901 (GRCm39)		probably null	Het
Slc46a2	T	A	4: 59,914,713 (GRCm39)	D70V	probably damaging	Het
Smpdl3a	A	C	10: 57,677,032 (GRCm39)	L43F	possibly damaging	Het
Spcs1	T	A	14: 30,722,103 (GRCm39)	D146V	possibly damaging	Het
Srcin1	T	C	11: 97,442,804 (GRCm39)	D8G	probably damaging	Het
Stra6	G	T	9: 58,056,488 (GRCm39)	L373F	probably damaging	Het
Tacc1	A	T	8: 25,672,299 (GRCm39)	S310T	possibly damaging	Het
Tlr12	T	C	4: 128,509,566 (GRCm39)	S895G	probably benign	Het
Tnfaip3	A	G	10: 18,887,258 (GRCm39)	V89A	probably damaging	Het
Top1	C	T	2: 160,488,009 (GRCm39)		probably benign	Het
Trappc13	T	G	13: 104,297,509 (GRCm39)	I132L	probably benign	Het
Trpt1	C	T	19: 6,976,349 (GRCm39)	Q249*	probably null	Het
Tsnaxip1	A	C	8: 106,569,179 (GRCm39)	K510Q	probably damaging	Het
Usp39	A	T	6: 72,305,657 (GRCm39)	N375K	probably benign	Het
Vldlr	T	A	19: 27,212,258 (GRCm39)	C91S	probably damaging	Het
Vmn1r232	T	A	17: 21,134,239 (GRCm39)	L120F	probably benign	Het
Vmn2r71	T	C	7: 85,264,707 (GRCm39)	V13A	probably benign	Het
Wdr11	T	A	7: 129,208,412 (GRCm39)	V389E	possibly damaging	Het
Wsb2	A	T	5: 117,514,766 (GRCm39)	I321F	possibly damaging	Het
Zan	A	T	5: 137,389,949 (GRCm39)	V4841E	unknown	Het
Zfy1	A	T	Y: 725,723 (GRCm39)	F681I	possibly damaging	Het
Zpld1	C	A	16: 55,067,017 (GRCm39)	E179D	probably benign	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
R8476:Rfxank	UTSW	8	70,590,828 (GRCm39)	missense	probably benign	0.00
R9671:Rfxank	UTSW	8	70,588,198 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACCCATACTGGCAAGTGAC -3'
(R):5'- AACTTGTGCGTGAGAGTGGC -3'

Sequencing Primer
(F):5'- AAGTGACAGTGCGCTCTC -3'
(R):5'- CATGTATGATTTGTGTAATGTTCCCC -3'

Posted On

2020-09-02