Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02095:Rbm26'

279557

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbm26

Ensembl Gene

ENSMUSG00000022119

Gene Name

RNA binding motif protein 26

Synonyms

1700009P03Rik, Pro1777, C230097K14Rik

Accession Numbers

Genbank: NM_134077; MGI: 1921463

Essential gene?

Possibly essential (E-score: 0.670) question?

Stock #

IGL02095

Quality Score

Status

Chromosome

Chromosomal Location

105106751-105177327 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105144260 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 488 (I488K)

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 damaging
Transcript: ENSMUST00000022715
AA Change: I483K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022715
Gene: ENSMUSG00000022119
AA Change: I483K

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: I483K

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

SMART Domains

Protein: ENSMUSP00000097901
Gene: ENSMUSG00000022119
AA Change: I483K

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 damaging
Transcript: ENSMUST00000163499
AA Change: I488K

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

SMART Domains

Protein: ENSMUSP00000128197
Gene: ENSMUSG00000022119
AA Change: I488K

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: I488K

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

SMART Domains

Protein: ENSMUSP00000126414
Gene: ENSMUSG00000022119
AA Change: I488K

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

Validation Efficiency

Allele List at MGI

All alleles(33) : Gene trapped(33)

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,661,626	Q794L	probably benign	Het
Acrbp	C	A	6: 125,053,956	Y313*	probably null	Het
Adam9	A	G	8: 24,996,729	S178P	probably benign	Het
Adgrv1	T	C	13: 81,579,790	I244V	possibly damaging	Het
Atad5	A	G	11: 80,094,707	S207G	probably benign	Het
Atp10a	A	G	7: 58,807,393	D880G	probably damaging	Het
Cadps2	A	G	6: 23,427,310	I573T	probably benign	Het
Camsap3	A	G	8: 3,603,845	D494G	probably damaging	Het
Cbfa2t3	T	C	8: 122,633,493	E438G	probably damaging	Het
Cisd2	T	C	3: 135,411,219	D37G	possibly damaging	Het
Cndp2	T	C	18: 84,681,032	E36G	possibly damaging	Het
Ddx54	G	A	5: 120,623,791	G544D	possibly damaging	Het
Dok2	G	T	14: 70,777,861	G343W	possibly damaging	Het
Dscaml1	A	G	9: 45,447,703	N87D	probably damaging	Het
Ehf	T	C	2: 103,266,991	Y237C	probably damaging	Het
Exoc3	T	C	13: 74,180,536	T569A	probably damaging	Het
Fam151a	T	C	4: 106,747,875	V478A	probably damaging	Het
Fam227b	T	A	2: 126,101,004	H291L	probably damaging	Het
Fmn2	A	G	1: 174,502,601	T186A	unknown	Het
Ggnbp2	T	C	11: 84,833,128	Y660C	probably damaging	Het
Ggt5	G	A	10: 75,608,803	M318I	probably benign	Het
Gprc5d	A	G	6: 135,116,177	I244T	probably damaging	Het
Gucy2e	A	G	11: 69,232,787	S429P	possibly damaging	Het
Igf2r	T	C	17: 12,702,005	D1341G	probably damaging	Het
Kcnq4	T	C	4: 120,700,027		probably benign	Het
Krt40	T	C	11: 99,541,671	D173G	probably damaging	Het
Lrrc27	C	T	7: 139,230,253	T380I	probably benign	Het
Lrrc4c	A	G	2: 97,629,404	N125S	probably benign	Het
Mtor	C	T	4: 148,544,541	R2217C	probably damaging	Het
Nfrkb	C	T	9: 31,411,231	R866W	probably damaging	Het
Olfr1424	C	A	19: 12,059,549	V68F	probably benign	Het
Olfr982	T	A	9: 40,074,671	Y125*	probably null	Het
P2ry6	T	A	7: 100,938,864	D96V	probably damaging	Het
Pcdh18	A	T	3: 49,756,156	S237T	probably benign	Het
Pck2	G	A	14: 55,542,510	R72Q	probably benign	Het
Pik3c2a	C	T	7: 116,346,188	R1461Q	probably damaging	Het
Polr3a	A	G	14: 24,454,610	V1130A	possibly damaging	Het
Ppm1d	T	A	11: 85,327,006	D198E	probably benign	Het
Rasa1	T	A	13: 85,216,155	E1022D	probably benign	Het
Rbm25	T	C	12: 83,671,974	Y507H	probably damaging	Het
Ryr2	T	A	13: 11,759,759	E1170D	probably damaging	Het
Sdk2	T	G	11: 113,834,830	T1198P	probably damaging	Het
Sema3g	C	T	14: 31,227,824	T654I	probably benign	Het
Spag9	A	T	11: 94,108,582	H1108L	probably damaging	Het
Tcrg-C2	T	A	13: 19,307,410		probably benign	Het
Ubap2	T	C	4: 41,229,709	N142S	probably benign	Het
Usp33	T	C	3: 152,381,794	F699L	possibly damaging	Het
Ythdc2	A	G	18: 44,873,140		probably benign	Het

Other mutations in Rbm26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00708:Rbm26	APN	14	105159960	missense	unknown
IGL00948:Rbm26	APN	14	105150343	missense	probably damaging	1.00
IGL01584:Rbm26	APN	14	105131532	missense	probably damaging	0.99
IGL01726:Rbm26	APN	14	105152507	missense	probably damaging	0.99
IGL03306:Rbm26	APN	14	105151322	missense	probably damaging	0.99
monte	UTSW	14	105142834	missense	probably benign	0.12
D4043:Rbm26	UTSW	14	105152540	missense	possibly damaging	0.59
I0000:Rbm26	UTSW	14	105153567	missense	unknown
R0051:Rbm26	UTSW	14	105152540	missense	possibly damaging	0.95
R0051:Rbm26	UTSW	14	105152540	missense	possibly damaging	0.95
R0243:Rbm26	UTSW	14	105131938	missense	probably benign	0.22
R0738:Rbm26	UTSW	14	105176782	missense	unknown
R1566:Rbm26	UTSW	14	105160544	missense	unknown
R1645:Rbm26	UTSW	14	105150817	missense	probably damaging	1.00
R1789:Rbm26	UTSW	14	105117073	missense	probably benign	0.32
R1809:Rbm26	UTSW	14	105117106	splice site	probably benign
R2144:Rbm26	UTSW	14	105115202	nonsense	probably null
R2321:Rbm26	UTSW	14	105153427	missense	unknown
R2495:Rbm26	UTSW	14	105151312	splice site	probably benign
R2906:Rbm26	UTSW	14	105142834	missense	probably benign	0.12
R2907:Rbm26	UTSW	14	105142834	missense	probably benign	0.12
R2908:Rbm26	UTSW	14	105142834	missense	probably benign	0.12
R3034:Rbm26	UTSW	14	105153445	missense	unknown
R3427:Rbm26	UTSW	14	105131532	missense	probably damaging	0.99
R3818:Rbm26	UTSW	14	105141270	missense	probably damaging	0.99
R3863:Rbm26	UTSW	14	105121068	missense	probably damaging	0.99
R4448:Rbm26	UTSW	14	105151550	missense	probably damaging	0.99
R5022:Rbm26	UTSW	14	105144252	missense	probably damaging	1.00
R5040:Rbm26	UTSW	14	105121016	missense	probably benign	0.05
R5626:Rbm26	UTSW	14	105144231	missense	probably benign	0.43
R5817:Rbm26	UTSW	14	105128603	missense	probably damaging	1.00
R5960:Rbm26	UTSW	14	105150315	missense	probably damaging	1.00
R6318:Rbm26	UTSW	14	105131535	missense	probably damaging	0.99
R6608:Rbm26	UTSW	14	105152498	missense	probably damaging	1.00
R6821:Rbm26	UTSW	14	105116964	intron	probably benign
R7075:Rbm26	UTSW	14	105160607	missense	unknown
R7136:Rbm26	UTSW	14	105144267	missense	possibly damaging	0.88
R7340:Rbm26	UTSW	14	105152540	missense	possibly damaging	0.86
R7431:Rbm26	UTSW	14	105117092	missense	possibly damaging	0.71
R7554:Rbm26	UTSW	14	105160593	missense	unknown
R7638:Rbm26	UTSW	14	105150848	missense	probably damaging	1.00
R8192:Rbm26	UTSW	14	105142689	critical splice donor site	probably null
R8536:Rbm26	UTSW	14	105142838	missense	possibly damaging	0.88
R9180:Rbm26	UTSW	14	105153603	missense	unknown
RF004:Rbm26	UTSW	14	105151495	missense	probably damaging	1.00

Posted On

2015-04-16