Mutagenetix > Incidental Mutation

Incidental Mutation 'R6821:Rbm26'

537644

Institutional Source

Beutler Lab

Gene Symbol

Rbm26

Ensembl Gene

ENSMUSG00000022119

Gene Name

RNA binding motif protein 26

Synonyms

C230097K14Rik, 1700009P03Rik, Pro1777

MMRRC Submission

044933-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.585) question?

Stock #

R6821 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105344187-105414763 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 105354400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022715] [ENSMUST00000100327] [ENSMUST00000163499] [ENSMUST00000163545] [ENSMUST00000172122]

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

unknown
Transcript: ENSMUST00000163499
AA Change: L991F

SMART Domains

Protein: ENSMUSP00000128197
Gene: ENSMUSG00000022119
AA Change: L991F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000172122

SMART Domains

Protein: ENSMUSP00000126804
Gene: ENSMUSG00000022119

Domain	Start	End	E-Value	Type
Blast:RRM_2	1	46	3e-6	BLAST
low complexity region	74	105	N/A	INTRINSIC
Pfam:RRM_1	125	180	1.1e-5	PFAM
Pfam:RRM_5	132	184	1.7e-9	PFAM
low complexity region	196	206	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

97% (63/65)

Allele List at MGI

All alleles(33) : Gene trapped(33)

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	C	19: 55,277,268 (GRCm39)	I417T	probably benign	Het
Adamts12	A	C	15: 11,152,134 (GRCm39)	K208T	probably benign	Het
Adamts8	T	A	9: 30,867,922 (GRCm39)	L582Q	probably benign	Het
Aim2	C	G	1: 173,291,546 (GRCm39)	T317R	probably damaging	Het
Ano9	A	T	7: 140,687,169 (GRCm39)	F357I	possibly damaging	Het
Aox3	T	C	1: 58,189,547 (GRCm39)	V416A	probably benign	Het
Arhgap21	A	C	2: 20,853,659 (GRCm39)	F1901C	probably benign	Het
Atp8b2	A	T	3: 89,855,480 (GRCm39)	F506I	probably damaging	Het
Atp9b	A	T	18: 80,890,463 (GRCm39)	L292H	probably damaging	Het
C2cd5	A	G	6: 142,963,712 (GRCm39)	V891A	probably damaging	Het
Ccnt2	T	C	1: 127,731,072 (GRCm39)	S650P	probably damaging	Het
Cdhr3	T	A	12: 33,085,044 (GRCm39)	N791Y	probably damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 105,036,334 (GRCm39)		probably null	Het
D630003M21Rik	A	C	2: 158,046,694 (GRCm39)	L761R	probably damaging	Het
Draxin	G	T	4: 148,200,148 (GRCm39)	Q101K	possibly damaging	Het
Dtx3l	A	T	16: 35,753,430 (GRCm39)	L392Q	probably damaging	Het
Eif3d	A	G	15: 77,845,855 (GRCm39)	S389P	possibly damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Epha4	T	C	1: 77,359,582 (GRCm39)	N757S	possibly damaging	Het
Fam228b	T	C	12: 4,813,083 (GRCm39)	I96V	probably benign	Het
Gars1	A	G	6: 55,056,323 (GRCm39)	E728G	probably benign	Het
Gldn	T	C	9: 54,246,054 (GRCm39)	M535T	probably benign	Het
Gm47985	A	G	1: 151,058,787 (GRCm39)	T143A	possibly damaging	Het
Gpr6	T	C	10: 40,947,004 (GRCm39)	T193A	probably benign	Het
Grik5	C	T	7: 24,745,780 (GRCm39)	R431Q	possibly damaging	Het
Hecw1	T	A	13: 14,438,719 (GRCm39)	Y1315F	probably damaging	Het
Hs3st2	A	G	7: 121,099,745 (GRCm39)	D197G	possibly damaging	Het
Igsf9	T	C	1: 172,312,060 (GRCm39)	I2T	probably benign	Het
Ints9	A	G	14: 65,274,907 (GRCm39)	E621G	probably benign	Het
Itm2b	G	A	14: 73,603,907 (GRCm39)	P47S	probably benign	Het
Map10	A	G	8: 126,397,138 (GRCm39)	K177R	probably benign	Het
Mdh2	T	C	5: 135,818,525 (GRCm39)	F260S	possibly damaging	Het
Mtmr11	A	G	3: 96,077,723 (GRCm39)	T573A	probably benign	Het
Mycbp2	A	T	14: 103,376,845 (GRCm39)	I3812N	probably damaging	Het
Myo15a	A	G	11: 60,415,301 (GRCm39)	N3403S	probably damaging	Het
Nvl	G	A	1: 180,954,535 (GRCm39)	Q343*	probably null	Het
Ocstamp	A	T	2: 165,239,842 (GRCm39)	S115T	probably benign	Het
Or51ai2	A	T	7: 103,586,793 (GRCm39)	I69F	probably benign	Het
Otoa	G	A	7: 120,692,070 (GRCm39)		probably null	Het
Pcdhb20	A	T	18: 37,639,175 (GRCm39)	N567I	probably damaging	Het
Pgm5	A	T	19: 24,839,011 (GRCm39)	V48E	possibly damaging	Het
Phlpp1	T	A	1: 106,314,174 (GRCm39)	S1182R	probably damaging	Het
Pik3r4	T	A	9: 105,527,805 (GRCm39)	L386Q	probably damaging	Het
Pop1	A	G	15: 34,508,785 (GRCm39)	K287E	possibly damaging	Het
Pramel23	A	T	4: 143,425,874 (GRCm39)	L23*	probably null	Het
Rad54b	A	G	4: 11,612,777 (GRCm39)	D803G	probably damaging	Het
Rspry1	C	T	8: 95,362,059 (GRCm39)	Q113*	probably null	Het
Siah2	T	A	3: 58,599,191 (GRCm39)	S16C	probably benign	Het
Sirpa	C	A	2: 129,472,017 (GRCm39)	D481E	probably damaging	Het
Slc38a7	A	C	8: 96,571,548 (GRCm39)	D227E	probably benign	Het
Smc5	A	G	19: 23,220,151 (GRCm39)	V438A	probably benign	Het
Spast	A	G	17: 74,658,957 (GRCm39)	E108G	probably benign	Het
Speg	A	G	1: 75,394,547 (GRCm39)	E1752G	possibly damaging	Het
Tanc2	T	G	11: 105,777,316 (GRCm39)		probably null	Het
Tgfbi	T	C	13: 56,773,950 (GRCm39)	I243T	possibly damaging	Het
Tlr12	T	C	4: 128,510,685 (GRCm39)	S522G	possibly damaging	Het
Trav14-3	A	G	14: 54,000,929 (GRCm39)	I47V	probably benign	Het
Tsc22d4	T	C	5: 137,760,906 (GRCm39)	V109A	possibly damaging	Het
Ttl	G	A	2: 128,910,835 (GRCm39)	R73H	probably damaging	Het
Usp34	C	T	11: 23,317,491 (GRCm39)	T850I	possibly damaging	Het
Vdac3	T	C	8: 23,070,491 (GRCm39)	Y140C	probably damaging	Het
Vmn2r120	T	C	17: 57,843,659 (GRCm39)	R62G	probably benign	Het
Vmn2r17	T	A	5: 109,577,331 (GRCm39)	Y461N	probably damaging	Het
Wt1	T	A	2: 105,002,612 (GRCm39)	F493I	probably damaging	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
R2495:Rbm26	UTSW	14	105,388,748 (GRCm39)	splice site	probably benign
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
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'- AAGGCTGAAATGTTGATACAGC -3'
(R):5'- TTTTGGCCAGGAGTGAAATGATAG -3'

Sequencing Primer
(F):5'- GCTGAAATGTTGATACAGCAATTAAG -3'
(R):5'- CTGTGGACACTGAAGAAG -3'

Posted On

2018-10-18