Mutagenetix > Incidental Mutation

Incidental Mutation 'R1789:Rbm26'

201660

Institutional Source

Beutler Lab

Gene Symbol

Rbm26

Ensembl Gene

ENSMUSG00000022119

Gene Name

RNA binding motif protein 26

Synonyms

C230097K14Rik, 1700009P03Rik, Pro1777

MMRRC Submission

039820-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.585) question?

Stock #

R1789 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105344187-105414763 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105354509 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 949 (K949N)

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 benign
Transcript: ENSMUST00000022715
AA Change: K949N

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000022715
Gene: ENSMUSG00000022119
AA Change: K949N

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
AA Change: K925N

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000097901
Gene: ENSMUSG00000022119
AA Change: K925N

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
AA Change: K954N

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000128197
Gene: ENSMUSG00000022119
AA Change: K954N

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
AA Change: K951N

PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000126414
Gene: ENSMUSG00000022119
AA Change: K951N

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

noncoding transcript
Transcript: ENSMUST00000164319

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165350

Predicted Effect

probably benign
Transcript: ENSMUST00000172122
AA Change: K175N

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000126804
Gene: ENSMUSG00000022119
AA Change: K175N

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: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.1%

Validation Efficiency

Allele List at MGI

All alleles(33) : Gene trapped(33)

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	A	16: 20,184,701 (GRCm39)	P986L	probably damaging	Het
Acad10	A	T	5: 121,769,456 (GRCm39)	Y667N	possibly damaging	Het
Ahi1	G	A	10: 20,839,014 (GRCm39)	G121D	probably benign	Het
Ampd1	T	A	3: 103,006,442 (GRCm39)	I690N	possibly damaging	Het
Amy1	C	A	3: 113,351,814 (GRCm39)	W425L	possibly damaging	Het
Arhgap27	A	T	11: 103,223,831 (GRCm39)	V823E	probably damaging	Het
Arhgef17	A	G	7: 100,579,077 (GRCm39)	S624P	probably damaging	Het
Arid5b	T	C	10: 68,021,897 (GRCm39)	H231R	probably damaging	Het
Aspscr1	C	A	11: 120,579,386 (GRCm39)	T78N	probably damaging	Het
Auts2	T	A	5: 131,501,288 (GRCm39)	T42S	probably damaging	Het
Ccdc171	A	G	4: 83,473,045 (GRCm39)	D158G	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Cfap61	T	C	2: 145,781,913 (GRCm39)		probably null	Het
Chrna5	T	C	9: 54,911,935 (GRCm39)	V245A	possibly damaging	Het
Cntnap5c	G	A	17: 58,320,916 (GRCm39)	G163R	probably damaging	Het
Col5a2	A	G	1: 45,417,465 (GRCm39)		probably null	Het
Col5a2	T	C	1: 45,433,936 (GRCm39)	Q759R	probably damaging	Het
Comp	A	G	8: 70,829,796 (GRCm39)	D340G	probably benign	Het
Cyfip1	T	A	7: 55,576,143 (GRCm39)	D1104E	probably damaging	Het
Dnah11	A	T	12: 118,002,515 (GRCm39)	S308T	probably damaging	Het
Dnah5	A	G	15: 28,270,572 (GRCm39)	H958R	probably benign	Het
Elp3	A	G	14: 65,785,368 (GRCm39)	Y478H	probably damaging	Het
Fam237b	A	T	5: 5,625,652 (GRCm39)	Q116L	possibly damaging	Het
Fat3	T	C	9: 16,288,281 (GRCm39)	Y414C	probably benign	Het
Fbxo10	C	A	4: 45,046,389 (GRCm39)	A574S	probably damaging	Het
Fsip2	G	T	2: 82,807,906 (GRCm39)	L1408F	probably benign	Het
Fubp3	T	C	2: 31,501,747 (GRCm39)	V425A	possibly damaging	Het
Gm7168	A	T	17: 14,169,846 (GRCm39)	R404S	probably benign	Het
Gpd1	T	G	15: 99,621,083 (GRCm39)	F299C	probably damaging	Het
Gpr137	C	T	19: 6,919,425 (GRCm39)		probably benign	Het
Grin3b	T	C	10: 79,809,242 (GRCm39)	S331P	probably benign	Het
Grk3	T	A	5: 113,089,584 (GRCm39)	I281F	probably damaging	Het
Hoxb7	T	A	11: 96,177,607 (GRCm39)	S18R	probably damaging	Het
Igf1r	C	T	7: 67,864,681 (GRCm39)	R1160*	probably null	Het
Itfg1	A	G	8: 86,452,141 (GRCm39)		probably null	Het
Itgb8	T	C	12: 119,166,190 (GRCm39)	I114V	probably benign	Het
Kcnk1	A	G	8: 126,752,123 (GRCm39)	E243G	possibly damaging	Het
Kif27	A	G	13: 58,491,822 (GRCm39)	L439P	probably damaging	Het
Kif2c	T	A	4: 117,024,558 (GRCm39)	Q279L	probably benign	Het
Kmt2d	A	T	15: 98,749,955 (GRCm39)		probably benign	Het
L3mbtl1	A	G	2: 162,816,422 (GRCm39)	T821A	probably benign	Het
Lrrc24	A	T	15: 76,606,778 (GRCm39)	M206K	probably benign	Het
Mamdc4	T	G	2: 25,457,634 (GRCm39)	K460Q	possibly damaging	Het
Maml2	C	G	9: 13,608,641 (GRCm39)	L30V	probably damaging	Het
Mc5r	C	G	18: 68,471,741 (GRCm39)		probably null	Het
Myo10	T	G	15: 25,726,611 (GRCm39)		probably null	Het
Myo1e	T	A	9: 70,246,066 (GRCm39)	L419Q	probably damaging	Het
Myo6	C	A	9: 80,207,854 (GRCm39)	H1115Q	probably damaging	Het
Myo7a	A	G	7: 97,756,302 (GRCm39)	V10A	probably damaging	Het
Myoz2	C	T	3: 122,819,776 (GRCm39)	R61H	probably damaging	Het
Ncdn	G	A	4: 126,645,796 (GRCm39)	R38C	probably damaging	Het
Nckap1	T	A	2: 80,350,900 (GRCm39)	T736S	probably benign	Het
Ncor2	G	A	5: 125,096,954 (GRCm39)	A2325V	probably damaging	Het
Nid2	T	A	14: 19,802,499 (GRCm39)	V140E	possibly damaging	Het
Nlrp9c	C	A	7: 26,079,915 (GRCm39)	D704Y	probably benign	Het
Notch3	T	A	17: 32,377,699 (GRCm39)	S126C	probably damaging	Het
Or2g7	T	C	17: 38,378,839 (GRCm39)	I259T	probably damaging	Het
Or5p60	A	G	7: 107,724,122 (GRCm39)	F116S	probably benign	Het
Or5w10	A	T	2: 87,375,327 (GRCm39)	L187H	probably damaging	Het
Or6c219	A	T	10: 129,781,451 (GRCm39)	L160*	probably null	Het
Or6c6c	T	C	10: 129,541,476 (GRCm39)	M243T	possibly damaging	Het
Or6d15	A	C	6: 116,559,658 (GRCm39)	F83C	probably damaging	Het
Pdzd7	A	G	19: 45,027,667 (GRCm39)	I269T	probably damaging	Het
Phf3	A	T	1: 30,845,287 (GRCm39)	D1299E	probably damaging	Het
Pitx2	T	A	3: 129,012,403 (GRCm39)	Y271N	probably damaging	Het
Polk	T	C	13: 96,633,140 (GRCm39)	E301G	probably damaging	Het
Prkdc	C	A	16: 15,557,388 (GRCm39)	N2230K	probably damaging	Het
Prlr	A	G	15: 10,322,622 (GRCm39)	E170G	probably benign	Het
Prss55	A	G	14: 64,313,179 (GRCm39)	I235T	probably damaging	Het
Psd3	T	C	8: 68,413,217 (GRCm39)	I724V	probably benign	Het
Rabep2	A	G	7: 126,037,971 (GRCm39)	T248A	possibly damaging	Het
Rnf213	T	A	11: 119,331,047 (GRCm39)	D2085E	probably damaging	Het
Serpinb7	A	T	1: 107,378,003 (GRCm39)	H232L	possibly damaging	Het
Slu7	A	G	11: 43,336,069 (GRCm39)	Q484R	probably benign	Het
Smg1	A	G	7: 117,745,021 (GRCm39)	S3044P	possibly damaging	Het
Snrnp48	A	G	13: 38,405,336 (GRCm39)	D248G	possibly damaging	Het
Snrpc	C	A	17: 28,064,193 (GRCm39)	P66Q	unknown	Het
Snrpn	T	A	7: 59,633,207 (GRCm39)		probably benign	Het
Spag17	T	A	3: 99,846,672 (GRCm39)	S65R	possibly damaging	Het
Srsf6	C	A	2: 162,776,408 (GRCm39)		probably benign	Het
Stil	T	A	4: 114,898,979 (GRCm39)	M1203K	probably benign	Het
Syt17	T	C	7: 118,036,061 (GRCm39)	T106A	probably benign	Het
Tbx15	C	T	3: 99,259,562 (GRCm39)	Q478*	probably null	Het
Tg	A	T	15: 66,609,397 (GRCm39)	Q319L	probably benign	Het
Thada	A	G	17: 84,755,461 (GRCm39)	L243P	probably damaging	Het
Thada	G	T	17: 84,755,462 (GRCm39)	L243I	probably damaging	Het
Tnnt3	A	G	7: 142,066,101 (GRCm39)	R211G	probably damaging	Het
Togaram1	A	T	12: 65,049,409 (GRCm39)	Q1282L	possibly damaging	Het
Tpm3-rs7	T	G	14: 113,552,379 (GRCm39)	M91R	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Ttll7	T	G	3: 146,621,535 (GRCm39)	L378R	probably damaging	Het
Tyw1	T	G	5: 130,287,834 (GRCm39)	I22R	probably damaging	Het
Ubr3	T	C	2: 69,846,711 (GRCm39)	S1645P	possibly damaging	Het
Ubr4	T	C	4: 139,120,364 (GRCm39)	L263P	probably damaging	Het
Unc13c	T	C	9: 73,663,621 (GRCm39)	E1071G	possibly damaging	Het
Vmn2r44	G	T	7: 8,383,122 (GRCm39)	D157E	possibly damaging	Het
Vps16	C	T	2: 130,285,520 (GRCm39)	T821I	probably benign	Het
Washc4	T	C	10: 83,415,389 (GRCm39)	V793A	possibly damaging	Het
Wdr35	G	T	12: 9,027,435 (GRCm39)		probably null	Het
Zfp277	A	G	12: 40,414,084 (GRCm39)	F254L	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
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
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'- CCCCTGTCTGGAATATGGTTTAG -3'
(R):5'- GATTTTGGCCAGGAGTGAAATG -3'

Sequencing Primer
(F):5'- ACTATGAATAATGATGGGAAAAC -3'
(R):5'- TTGGCCAGGAGTGAAATGATAGTTG -3'

Posted On

2014-06-23