Mutagenetix > Incidental Mutation

Incidental Mutation 'R9180:Rbm26'

696988

Institutional Source

Beutler Lab

Gene Symbol

Rbm26

Ensembl Gene

ENSMUSG00000022119

Gene Name

RNA binding motif protein 26

Synonyms

C230097K14Rik, 1700009P03Rik, Pro1777

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.585) question?

Stock #

R9180 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105344187-105414763 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105391039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 149 (R149H)

Ref Sequence

ENSEMBL: ENSMUSP00000097901 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000022715
AA Change: R149H

SMART Domains

Protein: ENSMUSP00000022715
Gene: ENSMUSG00000022119
AA Change: R149H

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

unknown
Transcript: ENSMUST00000100327
AA Change: R149H

SMART Domains

Protein: ENSMUSP00000097901
Gene: ENSMUSG00000022119
AA Change: R149H

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: R149H

SMART Domains

Protein: ENSMUSP00000128197
Gene: ENSMUSG00000022119
AA Change: R149H

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

unknown
Transcript: ENSMUST00000163545
AA Change: R149H

SMART Domains

Protein: ENSMUSP00000126414
Gene: ENSMUSG00000022119
AA Change: R149H

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

All alleles(33) : Gene trapped(33)

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	G	A	3: 137,889,470 (GRCm39)	P49L	probably benign	Het
Adam34l	T	A	8: 44,079,970 (GRCm39)	R85*	probably null	Het
Anapc2	C	T	2: 25,163,303 (GRCm39)	T180I	probably benign	Het
Ankib1	A	T	5: 3,756,276 (GRCm39)	H556Q	probably damaging	Het
Aox1	A	T	1: 58,378,777 (GRCm39)	K1009*	probably null	Het
Apob	C	T	12: 8,047,925 (GRCm39)	P968L	probably damaging	Het
Bpi	T	A	2: 158,116,608 (GRCm39)	F335Y	probably benign	Het
Cabcoco1	T	C	10: 68,272,719 (GRCm39)	Y222C	probably damaging	Het
Camk2b	G	T	11: 5,939,332 (GRCm39)	C273*	probably null	Het
Catsperd	G	A	17: 56,968,252 (GRCm39)	D546N	probably benign	Het
Cenpb	C	T	2: 131,021,463 (GRCm39)	G112S	probably damaging	Het
Col6a5	A	G	9: 105,739,178 (GRCm39)	L2585P	probably damaging	Het
Cop1	A	G	1: 159,147,339 (GRCm39)	E555G	probably damaging	Het
Coro1b	T	C	19: 4,203,392 (GRCm39)	V411A	probably benign	Het
Cyfip2	G	A	11: 46,176,920 (GRCm39)	R87C	probably damaging	Het
Dthd1	A	C	5: 63,045,410 (GRCm39)	I725L	probably benign	Het
Dydc1	A	C	14: 40,800,054 (GRCm39)	E20A	probably damaging	Het
Ermp1	T	C	19: 29,609,845 (GRCm39)	I317V	probably benign	Het
Fat4	A	G	3: 38,942,556 (GRCm39)	N483S	possibly damaging	Het
Fbxo33	A	G	12: 59,251,095 (GRCm39)		probably null	Het
Fcgbp	G	T	7: 27,803,198 (GRCm39)	E1601*	probably null	Het
Fer1l5	A	T	1: 36,449,999 (GRCm39)	S1118C	probably null	Het
Fer1l6	T	C	15: 58,494,230 (GRCm39)	V1141A	probably benign	Het
Flnb	C	T	14: 7,818,219 (GRCm38)	T23M	probably damaging	Het
Fsip2	T	C	2: 82,815,574 (GRCm39)	L3769P	possibly damaging	Het
Gna11	T	C	10: 81,370,942 (GRCm39)	K98R		Het
Gpat3	A	T	5: 101,032,230 (GRCm39)	T176S	probably benign	Het
Gprc5b	A	G	7: 118,583,542 (GRCm39)	L109P	probably damaging	Het
Hadha	A	T	5: 30,340,038 (GRCm39)	N246K	probably benign	Het
Haus3	G	A	5: 34,324,835 (GRCm39)	Q275*	probably null	Het
Higd1b	A	G	11: 102,728,090 (GRCm39)	Y44C	possibly damaging	Het
Igkv1-131	T	C	6: 67,743,218 (GRCm39)	K55R	probably benign	Het
Igtp	G	T	11: 58,098,091 (GRCm39)	E421*	probably null	Het
Kcnk3	G	T	5: 30,745,532 (GRCm39)		probably benign	Het
Krtap4-13	A	T	11: 99,700,165 (GRCm39)	C165S	unknown	Het
Lrfn4	T	C	19: 4,663,353 (GRCm39)	R394G	probably benign	Het
Lrrc7	A	C	3: 157,867,011 (GRCm39)	L910R	possibly damaging	Het
Mbtd1	A	G	11: 93,823,218 (GRCm39)	D568G	probably damaging	Het
Mettl16	T	A	11: 74,693,826 (GRCm39)	I279N	probably benign	Het
Mmrn2	A	G	14: 34,121,158 (GRCm39)	H676R	probably benign	Het
Mrgprg	T	C	7: 143,318,350 (GRCm39)	K254R	probably benign	Het
Muc16	A	C	9: 18,554,038 (GRCm39)	V4085G	unknown	Het
Mvp	T	C	7: 126,591,822 (GRCm39)	Q456R	probably benign	Het
Myf6	T	C	10: 107,329,318 (GRCm39)	D209G	probably benign	Het
Ociad1	A	G	5: 73,467,725 (GRCm39)	D167G	probably benign	Het
Or11l3	A	G	11: 58,516,062 (GRCm39)	L270P	probably benign	Het
Or1l4	A	G	2: 37,091,292 (GRCm39)	D13G	probably benign	Het
Or51f23b	T	A	7: 102,402,734 (GRCm39)	Y134F	probably damaging	Het
Or5m3	T	G	2: 85,838,325 (GRCm39)	D68E	probably damaging	Het
Or6c1b	T	C	10: 129,272,858 (GRCm39)	F59S	probably damaging	Het
Phf20	A	G	2: 156,114,537 (GRCm39)	D295G	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Ppp1r13b	A	T	12: 111,811,416 (GRCm39)	H157Q	probably benign	Het
Prss3b	A	G	6: 41,008,681 (GRCm39)	L211P	probably damaging	Het
Reg3d	C	T	6: 78,355,443 (GRCm39)	C16Y	possibly damaging	Het
Rrp36	A	G	17: 46,978,980 (GRCm39)	F193L	possibly damaging	Het
Rtca	A	T	3: 116,282,905 (GRCm39)	M361K	probably benign	Het
Ryr3	T	G	2: 112,491,981 (GRCm39)	D3790A	probably damaging	Het
Serpina3n	C	A	12: 104,377,440 (GRCm39)	A231E	probably benign	Het
Sh2d2a	A	G	3: 87,759,070 (GRCm39)	D224G	possibly damaging	Het
Sh3bp2	A	T	5: 34,718,377 (GRCm39)	K526*	probably null	Het
Slc12a2	A	G	18: 58,069,469 (GRCm39)	T1017A	possibly damaging	Het
Slc12a8	T	C	16: 33,361,397 (GRCm39)	L93P	probably damaging	Het
Slc5a6	A	G	5: 31,195,190 (GRCm39)	I469T	probably damaging	Het
Smarcc1	T	A	9: 109,964,728 (GRCm39)	V95D	probably damaging	Het
Snap29	T	A	16: 17,224,163 (GRCm39)	S59R	probably damaging	Het
Tmem121b	T	A	6: 120,469,784 (GRCm39)	Y311F	probably damaging	Het
Tpcn1	C	A	5: 120,694,000 (GRCm39)	V199L	probably benign	Het
Ttn	T	C	2: 76,618,721 (GRCm39)	I16188V	probably benign	Het
Usp24	T	C	4: 106,216,247 (GRCm39)	I366T	possibly damaging	Het
Utrn	T	A	10: 12,545,463 (GRCm39)	E1727D	probably damaging	Het
Vav2	T	C	2: 27,182,701 (GRCm39)	D301G	probably damaging	Het
Vmn2r104	T	C	17: 20,263,087 (GRCm39)	T125A	probably benign	Het
Vmn2r73	T	G	7: 85,507,123 (GRCm39)	I730L	probably benign	Het
Zfp352	A	T	4: 90,113,118 (GRCm39)	K419N	probably benign	Het
Zfp84	C	A	7: 29,474,873 (GRCm39)	S48R	probably damaging	Het
Zfp947	A	T	17: 22,364,386 (GRCm39)	H429Q	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
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
RF004:Rbm26	UTSW	14	105,388,931 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTTTCCCAGTAAAGACCTGC -3'
(R):5'- GCAAATGTGGTTGAGTGTATAGAC -3'

Sequencing Primer
(F):5'- TGCAACCACATCACAAGTGAGTAG -3'
(R):5'- AAGATGTGTGTAAATGTATGTGTAGG -3'

Posted On

2022-02-07