Mutagenetix > Incidental Mutation

Incidental Mutation 'R2495:Rbm26'

251015

Institutional Source

Beutler Lab

Gene Symbol

Rbm26

Ensembl Gene

ENSMUSG00000022119

Gene Name

RNA binding motif protein 26

Synonyms

C230097K14Rik, 1700009P03Rik, Pro1777

MMRRC Submission

040409-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.585) question?

Stock #

R2495 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105344187-105414763 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 105388748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126414 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022715] [ENSMUST00000100327] [ENSMUST00000163499] [ENSMUST00000163545]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000022715

SMART Domains

Protein: ENSMUSP00000022715
Gene: ENSMUSG00000022119

Domain	Start	End	E-Value	Type
Pfam:PWI	10	80	1.1e-9	PFAM
low complexity region	102	123	N/A	INTRINSIC
low complexity region	131	186	N/A	INTRINSIC
low complexity region	190	215	N/A	INTRINSIC
ZnF_C3H1	289	315	2.61e-4	SMART
low complexity region	330	389	N/A	INTRINSIC
low complexity region	394	409	N/A	INTRINSIC
RRM	533	602	7.74e-3	SMART
low complexity region	722	735	N/A	INTRINSIC
Blast:RRM_2	753	820	6e-19	BLAST
low complexity region	848	879	N/A	INTRINSIC
RRM	892	956	2.1e-1	SMART
low complexity region	970	1002	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100327

SMART Domains

Protein: ENSMUSP00000097901
Gene: ENSMUSG00000022119

Domain	Start	End	E-Value	Type
Pfam:PWI	10	80	6.1e-10	PFAM
low complexity region	102	123	N/A	INTRINSIC
low complexity region	131	186	N/A	INTRINSIC
low complexity region	190	215	N/A	INTRINSIC
ZnF_C3H1	289	315	2.61e-4	SMART
low complexity region	330	389	N/A	INTRINSIC
low complexity region	394	409	N/A	INTRINSIC
RRM	533	602	7.74e-3	SMART
low complexity region	698	711	N/A	INTRINSIC
Blast:RRM_2	729	796	6e-19	BLAST
low complexity region	824	855	N/A	INTRINSIC
RRM	868	932	2.1e-1	SMART
low complexity region	946	978	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163499

SMART Domains

Protein: ENSMUSP00000128197
Gene: ENSMUSG00000022119

Domain	Start	End	E-Value	Type
Pfam:PWI	10	80	6.2e-10	PFAM
low complexity region	102	123	N/A	INTRINSIC
low complexity region	131	186	N/A	INTRINSIC
low complexity region	190	215	N/A	INTRINSIC
ZnF_C3H1	289	315	2.61e-4	SMART
low complexity region	330	389	N/A	INTRINSIC
low complexity region	394	409	N/A	INTRINSIC
RRM	538	607	7.74e-3	SMART
low complexity region	727	740	N/A	INTRINSIC
Blast:RRM_2	758	825	6e-19	BLAST
low complexity region	853	884	N/A	INTRINSIC
RRM	897	961	2.1e-1	SMART
low complexity region	975	983	N/A	INTRINSIC
low complexity region	986	1001	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163545

SMART Domains

Protein: ENSMUSP00000126414
Gene: ENSMUSG00000022119

Domain	Start	End	E-Value	Type
Pfam:PWI	11	81	1.5e-11	PFAM
low complexity region	102	123	N/A	INTRINSIC
low complexity region	131	186	N/A	INTRINSIC
low complexity region	190	215	N/A	INTRINSIC
ZnF_C3H1	289	315	2.61e-4	SMART
low complexity region	330	389	N/A	INTRINSIC
low complexity region	394	409	N/A	INTRINSIC
RRM	538	607	7.74e-3	SMART
low complexity region	724	737	N/A	INTRINSIC
Blast:RRM_2	755	822	6e-19	BLAST
low complexity region	850	881	N/A	INTRINSIC
RRM	894	958	2.1e-1	SMART
low complexity region	972	1004	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (63/64)

Allele List at MGI

All alleles(33) : Gene trapped(33)

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	C	3: 36,536,109 (GRCm39)	F125S	unknown	Het
Abhd17c	C	T	7: 83,759,884 (GRCm39)	W290*	probably null	Het
Acsl5	A	T	19: 55,282,031 (GRCm39)	K536*	probably null	Het
Adamts14	A	T	10: 61,034,749 (GRCm39)		probably null	Het
Agbl3	A	G	6: 34,823,699 (GRCm39)	H788R	probably damaging	Het
Agrp	T	C	8: 106,293,408 (GRCm39)	N126D	possibly damaging	Het
Ambn	T	C	5: 88,615,663 (GRCm39)	I349T	probably benign	Het
Ank1	T	C	8: 23,622,280 (GRCm39)	W1610R	probably damaging	Het
Aox3	T	C	1: 58,227,567 (GRCm39)	L1224P	probably damaging	Het
Arhgef28	A	T	13: 98,165,881 (GRCm39)		probably benign	Het
Bcl11b	G	A	12: 107,881,706 (GRCm39)	H798Y	possibly damaging	Het
Capn11	T	A	17: 45,949,689 (GRCm39)	M426L	probably damaging	Het
Cep95	A	G	11: 106,700,108 (GRCm39)	K290E	possibly damaging	Het
Cic	A	G	7: 24,991,201 (GRCm39)		probably benign	Het
Cnbd1	A	T	4: 18,860,579 (GRCm39)	M389K	probably damaging	Het
Cnksr1	A	T	4: 133,959,473 (GRCm39)	L387Q	probably benign	Het
Cntrob	G	T	11: 69,213,749 (GRCm39)	P14T	probably damaging	Het
Crmp1	G	A	5: 37,403,441 (GRCm39)		probably null	Het
Dido1	A	G	2: 180,331,181 (GRCm39)	V89A	probably benign	Het
Dnah7a	T	A	1: 53,645,040 (GRCm39)	I999F	probably damaging	Het
Dsp	T	A	13: 38,377,453 (GRCm39)	L1746Q	possibly damaging	Het
Dst	T	C	1: 34,238,454 (GRCm39)	S3897P	probably damaging	Het
Fbxo10	A	G	4: 45,040,545 (GRCm39)	F887L	probably benign	Het
Gm21961	T	A	15: 64,886,722 (GRCm39)	H11L	unknown	Het
Gm4559	A	T	7: 141,827,557 (GRCm39)	C182S	unknown	Het
Golga3	T	A	5: 110,355,462 (GRCm39)	S939T	probably damaging	Het
Got2	A	G	8: 96,614,918 (GRCm39)	S6P	possibly damaging	Het
Gpatch8	A	T	11: 102,369,307 (GRCm39)	H1410Q	probably damaging	Het
Gpx5	T	A	13: 21,475,610 (GRCm39)	T39S	probably benign	Het
Grin2b	T	C	6: 135,710,180 (GRCm39)	Y1122C	probably damaging	Het
Gsn	A	C	2: 35,193,205 (GRCm39)	N538T	probably damaging	Het
Helz2	A	G	2: 180,874,705 (GRCm39)	S1930P	probably damaging	Het
Krt6b	A	T	15: 101,586,757 (GRCm39)	F286Y	probably damaging	Het
Lrriq1	G	A	10: 103,038,242 (GRCm39)	R854C	probably damaging	Het
Mipol1	A	T	12: 57,507,776 (GRCm39)		probably benign	Het
Mmp19	A	G	10: 128,626,819 (GRCm39)		probably benign	Het
Msc	T	G	1: 14,825,473 (GRCm39)	Y167S	probably benign	Het
Mycbp2	T	G	14: 103,437,554 (GRCm39)	K2103Q	probably damaging	Het
Myh11	C	A	16: 14,023,421 (GRCm39)	D1586Y	probably damaging	Het
Nol6	A	T	4: 41,118,427 (GRCm39)	D791E	probably damaging	Het
Pcm1	A	G	8: 41,746,616 (GRCm39)	T1272A	probably benign	Het
Phgdh	A	G	3: 98,247,105 (GRCm39)	L15P	probably damaging	Het
Ptprk	A	T	10: 28,351,074 (GRCm39)		probably benign	Het
Ralgapa2	G	T	2: 146,203,320 (GRCm39)	D1091E	possibly damaging	Het
Rbbp8nl	C	A	2: 179,920,895 (GRCm39)	K496N	probably null	Het
Rfx6	A	C	10: 51,602,771 (GRCm39)		probably benign	Het
Rras	G	A	7: 44,667,488 (GRCm39)	G17R	probably damaging	Het
Shisa6	G	A	11: 66,108,459 (GRCm39)	P473S	probably damaging	Het
Slc9a3	A	G	13: 74,306,822 (GRCm39)	K316E	probably damaging	Het
Slco1a7	C	A	6: 141,711,503 (GRCm39)	M69I	probably benign	Het
Spata31d1a	A	G	13: 59,849,807 (GRCm39)	S774P	possibly damaging	Het
Spsb4	T	C	9: 96,877,840 (GRCm39)	Y161C	probably damaging	Het
Taf3	G	T	2: 9,957,644 (GRCm39)	N174K	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Trnt1	T	A	6: 106,750,330 (GRCm39)	V78E	possibly damaging	Het
Ubox5	A	T	2: 130,441,441 (GRCm39)	C415*	probably null	Het
Ucn2	C	T	9: 108,815,477 (GRCm39)	P80S	possibly damaging	Het
Vmn2r10	G	A	5: 109,143,961 (GRCm39)	T663I	probably damaging	Het
Wdfy1	A	T	1: 79,685,222 (GRCm39)	F337L	probably null	Het
Zfp287	A	T	11: 62,605,459 (GRCm39)	C483S	probably damaging	Het
Zyg11b	A	G	4: 108,101,921 (GRCm39)		probably null	Het

Other mutations in Rbm26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00708:Rbm26	APN	14	105,397,396 (GRCm39)	missense	unknown
IGL00948:Rbm26	APN	14	105,387,779 (GRCm39)	missense	probably damaging	1.00
IGL01584:Rbm26	APN	14	105,368,968 (GRCm39)	missense	probably damaging	0.99
IGL01726:Rbm26	APN	14	105,389,943 (GRCm39)	missense	probably damaging	0.99
IGL02095:Rbm26	APN	14	105,381,696 (GRCm39)	missense	probably damaging	1.00
IGL03306:Rbm26	APN	14	105,388,758 (GRCm39)	missense	probably damaging	0.99
monte	UTSW	14	105,380,270 (GRCm39)	missense	probably benign	0.12
D4043:Rbm26	UTSW	14	105,389,976 (GRCm39)	missense	possibly damaging	0.59
I0000:Rbm26	UTSW	14	105,391,003 (GRCm39)	missense	unknown
R0051:Rbm26	UTSW	14	105,389,976 (GRCm39)	missense	possibly damaging	0.95
R0051:Rbm26	UTSW	14	105,389,976 (GRCm39)	missense	possibly damaging	0.95
R0243:Rbm26	UTSW	14	105,369,374 (GRCm39)	missense	probably benign	0.22
R0738:Rbm26	UTSW	14	105,414,218 (GRCm39)	missense	unknown
R1566:Rbm26	UTSW	14	105,397,980 (GRCm39)	missense	unknown
R1645:Rbm26	UTSW	14	105,388,253 (GRCm39)	missense	probably damaging	1.00
R1789:Rbm26	UTSW	14	105,354,509 (GRCm39)	missense	probably benign	0.32
R1809:Rbm26	UTSW	14	105,354,542 (GRCm39)	splice site	probably benign
R2144:Rbm26	UTSW	14	105,352,638 (GRCm39)	nonsense	probably null
R2321:Rbm26	UTSW	14	105,390,863 (GRCm39)	missense	unknown
R2906:Rbm26	UTSW	14	105,380,270 (GRCm39)	missense	probably benign	0.12
R2907:Rbm26	UTSW	14	105,380,270 (GRCm39)	missense	probably benign	0.12
R2908:Rbm26	UTSW	14	105,380,270 (GRCm39)	missense	probably benign	0.12
R3034:Rbm26	UTSW	14	105,390,881 (GRCm39)	missense	unknown
R3427:Rbm26	UTSW	14	105,368,968 (GRCm39)	missense	probably damaging	0.99
R3818:Rbm26	UTSW	14	105,378,706 (GRCm39)	missense	probably damaging	0.99
R3863:Rbm26	UTSW	14	105,358,504 (GRCm39)	missense	probably damaging	0.99
R4448:Rbm26	UTSW	14	105,388,986 (GRCm39)	missense	probably damaging	0.99
R5022:Rbm26	UTSW	14	105,381,688 (GRCm39)	missense	probably damaging	1.00
R5040:Rbm26	UTSW	14	105,358,452 (GRCm39)	missense	probably benign	0.05
R5626:Rbm26	UTSW	14	105,381,667 (GRCm39)	missense	probably benign	0.43
R5817:Rbm26	UTSW	14	105,366,039 (GRCm39)	missense	probably damaging	1.00
R5960:Rbm26	UTSW	14	105,387,751 (GRCm39)	missense	probably damaging	1.00
R6318:Rbm26	UTSW	14	105,368,971 (GRCm39)	missense	probably damaging	0.99
R6608:Rbm26	UTSW	14	105,389,934 (GRCm39)	missense	probably damaging	1.00
R6821:Rbm26	UTSW	14	105,354,400 (GRCm39)	intron	probably benign
R7075:Rbm26	UTSW	14	105,398,043 (GRCm39)	missense	unknown
R7136:Rbm26	UTSW	14	105,381,703 (GRCm39)	missense	possibly damaging	0.88
R7340:Rbm26	UTSW	14	105,389,976 (GRCm39)	missense	possibly damaging	0.86
R7431:Rbm26	UTSW	14	105,354,528 (GRCm39)	missense	possibly damaging	0.71
R7554:Rbm26	UTSW	14	105,398,029 (GRCm39)	missense	unknown
R7638:Rbm26	UTSW	14	105,388,284 (GRCm39)	missense	probably damaging	1.00
R8192:Rbm26	UTSW	14	105,380,125 (GRCm39)	critical splice donor site	probably null
R8536:Rbm26	UTSW	14	105,380,274 (GRCm39)	missense	possibly damaging	0.88
R9180:Rbm26	UTSW	14	105,391,039 (GRCm39)	missense	unknown
RF004:Rbm26	UTSW	14	105,388,931 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTAAAGGCAGGGGCTATTATCAGG -3'
(R):5'- TGTGAATCTGCCAGGCATGC -3'

Sequencing Primer
(F):5'- GGCTCTTACAAAGCACAGTAACTAG -3'
(R):5'- GCATGCTGCCTTTCCCAG -3'

Posted On

2014-12-04