Mutagenetix > Incidental Mutation

Incidental Mutation 'R6318:Rbm26'

510314

Institutional Source

Beutler Lab

Gene Symbol

Rbm26

Ensembl Gene

ENSMUSG00000022119

Gene Name

RNA binding motif protein 26

Synonyms

C230097K14Rik, 1700009P03Rik, Pro1777

MMRRC Submission

044473-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.585) question?

Stock #

R6318 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105344187-105414763 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105368971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 736 (D736V)

Ref Sequence

ENSEMBL: ENSMUSP00000022715 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000022715
AA Change: D736V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022715
Gene: ENSMUSG00000022119
AA Change: D736V

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 damaging
Transcript: ENSMUST00000100327
AA Change: D712V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097901
Gene: ENSMUSG00000022119
AA Change: D712V

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

possibly damaging
Transcript: ENSMUST00000163499
AA Change: D741V

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128197
Gene: ENSMUSG00000022119
AA Change: D741V

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 damaging
Transcript: ENSMUST00000163545
AA Change: D738V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126414
Gene: ENSMUSG00000022119
AA Change: D738V

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: 99.1%
20x: 97.3%

Validation Efficiency

99% (74/75)

Allele List at MGI

All alleles(33) : Gene trapped(33)

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	G	9: 108,270,474 (GRCm39)	T13A	possibly damaging	Het
Abcg4	T	C	9: 44,186,645 (GRCm39)	T500A	probably benign	Het
Adcy4	T	A	14: 56,006,681 (GRCm39)	I1051F	probably damaging	Het
Adgrg6	A	T	10: 14,343,241 (GRCm39)	N235K	probably benign	Het
Aldh3a2	A	C	11: 61,153,245 (GRCm39)	Y160*	probably null	Het
Arhgef4	G	A	1: 34,762,558 (GRCm39)	A605T	unknown	Het
Armt1	T	C	10: 4,400,859 (GRCm39)	M202T	probably benign	Het
Brd2	C	A	17: 34,331,872 (GRCm39)	V349F	probably damaging	Het
Btnl10	A	T	11: 58,817,691 (GRCm39)		probably benign	Het
Ccdc178	A	G	18: 22,253,591 (GRCm39)	V216A	possibly damaging	Het
Ccdc85c	A	T	12: 108,240,968 (GRCm39)	L142Q	unknown	Het
Cdc27	A	T	11: 104,419,520 (GRCm39)	S172T	probably damaging	Het
Ceacam14	T	C	7: 17,548,237 (GRCm39)	I109T	probably damaging	Het
Ces5a	C	T	8: 94,261,211 (GRCm39)	G72E	probably damaging	Het
Cfb	A	G	17: 35,080,800 (GRCm39)	Y66H	possibly damaging	Het
Clec14a	G	A	12: 58,315,001 (GRCm39)	P207L	probably damaging	Het
Clec16a	G	A	16: 10,448,652 (GRCm39)	R599H	probably damaging	Het
Csmd1	A	T	8: 15,953,212 (GRCm39)	I3423N	probably damaging	Het
Cyp4a29	C	A	4: 115,107,396 (GRCm39)	N243K	probably benign	Het
Ddx59	T	C	1: 136,344,610 (GRCm39)	F94L	probably damaging	Het
Dusp3	A	C	11: 101,877,697 (GRCm39)	V19G	probably benign	Het
Fat3	T	C	9: 15,828,280 (GRCm39)		probably benign	Het
Fgfr4	T	A	13: 55,313,921 (GRCm39)	V545E	probably damaging	Het
Fxn	G	T	19: 24,257,790 (GRCm39)	A47D	probably damaging	Het
Gdpgp1	A	T	7: 79,888,898 (GRCm39)	I310F	possibly damaging	Het
Gm7210	A	T	7: 11,328,040 (GRCm39)		noncoding transcript	Het
Grm7	G	T	6: 111,335,836 (GRCm39)	C749F	probably damaging	Het
Hps4	T	G	5: 112,494,495 (GRCm39)	V26G	probably damaging	Het
Igf1r	A	G	7: 67,814,981 (GRCm39)	D294G	probably benign	Het
Immp1l	T	C	2: 105,761,172 (GRCm39)	F27S	probably benign	Het
Kcnk3	T	A	5: 30,779,930 (GRCm39)	C327S	probably damaging	Het
Kif13a	T	A	13: 46,968,683 (GRCm39)		probably null	Het
Krtap5-4	T	C	7: 141,857,827 (GRCm39)	S166P	unknown	Het
Lyst	G	A	13: 13,917,896 (GRCm39)	D3319N	possibly damaging	Het
Malrd1	T	G	2: 16,047,078 (GRCm39)	S1735A	unknown	Het
Myh4	A	G	11: 67,134,268 (GRCm39)	T308A	probably benign	Het
Myh8	A	T	11: 67,190,167 (GRCm39)	Q1269L	probably benign	Het
Myo15b	G	A	11: 115,781,657 (GRCm39)	V1367I	probably damaging	Het
Nae1	T	C	8: 105,250,269 (GRCm39)	D208G	probably benign	Het
Nelfe	T	A	17: 35,073,432 (GRCm39)	V296D	probably damaging	Het
Nkapd1	T	C	9: 50,518,761 (GRCm39)	R284G	probably benign	Het
Npepps	A	T	11: 97,109,374 (GRCm39)	V734E	probably damaging	Het
Ogdh	A	G	11: 6,299,390 (GRCm39)	N752S	probably damaging	Het
Or11i1	T	C	3: 106,729,503 (GRCm39)	D124G	probably damaging	Het
Or3a1b	A	T	11: 74,012,547 (GRCm39)	Q144L	possibly damaging	Het
Or5t9	A	G	2: 86,659,998 (GRCm39)	I301V	possibly damaging	Het
Or8b1	T	C	9: 38,399,673 (GRCm39)	M116T	probably benign	Het
Otof	C	A	5: 30,571,888 (GRCm39)	G171V	probably damaging	Het
Phtf2	A	T	5: 21,006,939 (GRCm39)	V208D	probably damaging	Het
Pkn1	T	A	8: 84,410,220 (GRCm39)	T340S	probably damaging	Het
Plcd4	C	T	1: 74,602,753 (GRCm39)	L668F	possibly damaging	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Prss50	A	T	9: 110,690,367 (GRCm39)	D170V	probably damaging	Het
Ptprg	T	C	14: 12,237,118 (GRCm38)	V604A	probably damaging	Het
Rab33b	T	C	3: 51,400,826 (GRCm39)	V100A	probably damaging	Het
Rela	C	A	19: 5,696,992 (GRCm39)	P400T	probably benign	Het
Rpusd4	T	C	9: 35,179,334 (GRCm39)	L50P	probably damaging	Het
Scn10a	A	C	9: 119,456,181 (GRCm39)	Y1214D	probably damaging	Het
Sema3c	A	G	5: 17,877,430 (GRCm39)	E179G	probably damaging	Het
Skint5	T	A	4: 113,374,330 (GRCm39)	D1253V	unknown	Het
Sp4	G	T	12: 118,201,913 (GRCm39)	P771H	probably damaging	Het
Sphkap	T	A	1: 83,256,099 (GRCm39)	Y263F	probably damaging	Het
Ssbp1	G	A	6: 40,453,687 (GRCm39)	V78I	probably benign	Het
St3gal6	A	G	16: 58,306,769 (GRCm39)	I87T	probably benign	Het
Tango6	T	A	8: 107,545,129 (GRCm39)	D997E	probably benign	Het
Tpr	C	T	1: 150,321,639 (GRCm39)	P2265S	possibly damaging	Het
Ttc7b	A	T	12: 100,291,936 (GRCm39)	F212Y	probably damaging	Het
Ubc	A	G	5: 125,465,324 (GRCm39)	M1T	probably null	Het
Vill	G	C	9: 118,892,716 (GRCm39)	Q376H	probably benign	Het
Yes1	T	C	5: 32,809,030 (GRCm39)	I132T	possibly damaging	Het
Ythdc2	A	G	18: 44,993,444 (GRCm39)	T830A	probably benign	Het
Zbtb41	T	A	1: 139,358,044 (GRCm39)	F451I	possibly damaging	Het
Zfp995	C	T	17: 22,099,493 (GRCm39)	C247Y	probably benign	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
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'- TGTCTCCAGCTCCAATACTAAGG -3'
(R):5'- GGTCAAACTGGAAGGTTCGATC -3'

Sequencing Primer
(F):5'- TCTCCAGCTCCAATACTAAGGAATAC -3'
(R):5'- AAGGTTCGATCTTCCTTCTGTCACAG -3'

Posted On

2018-04-02