Mutagenetix > Incidental Mutations

Incidental Mutation 'R7737:Rbmxl1'

596324

Institutional Source

Beutler Lab

Gene Symbol

Rbmxl1

Ensembl Gene

ENSMUSG00000037070

Gene Name

RNA binding motif protein, X-linked like-1

Synonyms

hnRNP G, Rbmxrt, Hnrpg

MMRRC Submission

Accession Numbers

Is this an essential gene?

Not available question?

Stock #

R7737 (G1)

Quality Score

218.009

Status

Not validated

Chromosome

Chromosomal Location

78505269-78508898 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78505623 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 364 (S364P)

Ref Sequence

ENSEMBL: ENSMUSP00000048153 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034111] [ENSMUST00000049245] [ENSMUST00000209490] [ENSMUST00000209992] [ENSMUST00000210515] [ENSMUST00000210630] [ENSMUST00000211286] [ENSMUST00000211719]

Predicted Effect

probably benign
Transcript: ENSMUST00000034111

SMART Domains

Protein: ENSMUSP00000034111
Gene: ENSMUSG00000031684

Domain	Start	End	E-Value	Type
Pfam:SBF_like	10	324	1.9e-82	PFAM
Pfam:SBF	44	224	2.9e-17	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000049245
AA Change: S364P

SMART Domains

Protein: ENSMUSP00000048153
Gene: ENSMUSG00000037070
AA Change: S364P

Domain	Start	End	E-Value	Type
RRM	9	82	2.31e-28	SMART
low complexity region	91	124	N/A	INTRINSIC
low complexity region	145	168	N/A	INTRINSIC
Pfam:RBM1CTR	170	214	5.5e-26	PFAM
low complexity region	215	231	N/A	INTRINSIC
low complexity region	236	271	N/A	INTRINSIC
low complexity region	300	338	N/A	INTRINSIC
low complexity region	352	387	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000209490

Predicted Effect

probably benign
Transcript: ENSMUST00000209992

Predicted Effect

probably benign
Transcript: ENSMUST00000210515

Predicted Effect

probably benign
Transcript: ENSMUST00000210630

Predicted Effect

probably benign
Transcript: ENSMUST00000211286

Predicted Effect

unknown
Transcript: ENSMUST00000211719
AA Change: S364P

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410141K09Rik	A	G	13: 66,433,677		probably null	Het
9530053A07Rik	T	A	7: 28,157,073	V2095E	probably damaging	Het
Adamts18	A	T	8: 113,736,934		probably null	Het
Akap3	T	A	6: 126,874,102	M861K	probably damaging	Het
Ankrd42	T	C	7: 92,605,262	T380A	possibly damaging	Het
Arhgef5	A	G	6: 43,273,794	E493G	possibly damaging	Het
Armc4	A	G	18: 7,217,890	L608P	probably damaging	Het
Arvcf	G	A	16: 18,397,101	R119Q	probably damaging	Het
Asmt	T	C	X: 170,676,440	F228S	probably damaging	Het
Atp2c2	T	A	8: 119,742,395	V349E	probably damaging	Het
BC034090	A	G	1: 155,241,673	V233A	possibly damaging	Het
Brinp3	G	T	1: 146,682,594	K85N	probably damaging	Het
Ccr6	G	A	17: 8,245,094		probably benign	Het
D7Ertd443e	A	G	7: 134,270,201	S644P	probably damaging	Het
Ddb1	C	T	19: 10,625,974	A882V	possibly damaging	Het
Epha4	C	T	1: 77,381,012	G783D	probably damaging	Het
Ephb1	T	A	9: 101,984,103	I621F	probably damaging	Het
Fbxw18	G	T	9: 109,701,263	Y93*	probably null	Het
Gak	A	C	5: 108,617,008	L84R	probably benign	Het
Gm21671	AACT	A	5: 25,950,851		probably benign	Het
Gm5458	A	T	14: 19,599,737		probably null	Het
Gpatch3	C	G	4: 133,575,096	Q113E	probably benign	Het
Gpld1	C	A	13: 24,975,726	L426M	probably damaging	Het
Ighmbp2	G	A	19: 3,274,467	P234S	unknown	Het
Itga6	G	A	2: 71,822,443	V217I	probably benign	Het
Kdm7a	A	T	6: 39,144,404	N872K	probably benign	Het
Klhl14	G	T	18: 21,558,134	Y446*	probably null	Het
Larp4b	T	A	13: 9,170,643		probably null	Het
Lct	A	T	1: 128,298,693	W1320R	probably benign	Het
Lrp2	T	C	2: 69,496,438	D1763G	possibly damaging	Het
Lrrk2	A	T	15: 91,815,446	N2499Y	probably damaging	Het
Lsg1	T	C	16: 30,581,185		probably null	Het
Mettl15	T	C	2: 109,137,378	K188E	probably damaging	Het
Mfsd4b1	A	G	10: 40,003,278	S208P	probably damaging	Het
Mlxipl	T	C	5: 135,135,381	S793P	possibly damaging	Het
Ms4a14	G	A	19: 11,302,786	Q803*	probably null	Het
Mtor	A	C	4: 148,538,738	E2015A	possibly damaging	Het
Myo15b	A	T	11: 115,887,923	Y2581F	unknown	Het
Myo7b	A	T	18: 32,014,204	Y95*	probably null	Het
Nf1	A	G	11: 79,545,488	I1985V	probably benign	Het
Noxred1	G	A	12: 87,221,362	Q332*	probably null	Het
Nudt21	A	T	8: 94,022,833	Y202N	probably damaging	Het
Olfr345	A	T	2: 36,640,620	I194F	probably benign	Het
Pik3c2a	A	T	7: 116,356,253	S1176T	probably damaging	Het
Pramef17	A	C	4: 143,991,956	S306A	possibly damaging	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,457,541		probably benign	Het
Rnf24	T	A	2: 131,303,496	K131N	probably benign	Het
Scai	T	A	2: 39,123,022	Q132L	probably damaging	Het
Sh3tc1	T	C	5: 35,723,953	R49G	probably benign	Het
Slc12a7	A	G	13: 73,788,677	E152G	probably benign	Het
Slc22a27	A	T	19: 7,896,762	M316K	probably damaging	Het
Spag1	G	T	15: 36,210,710	A427S	probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638		probably benign	Het
Stk16	G	T	1: 75,211,351	C8F	probably damaging	Het
Syne2	T	C	12: 75,942,848	C1834R	probably damaging	Het
Tie1	C	T	4: 118,478,857		probably null	Het
Timp2	A	G	11: 118,303,895	I156T	probably damaging	Het
Tmem163	A	G	1: 127,491,610	M286T	possibly damaging	Het
Tmx4	T	A	2: 134,639,668	M112L	probably benign	Het
Trank1	G	T	9: 111,366,012	E1035*	probably null	Het
Trim5	C	T	7: 104,279,564	V57M	probably damaging	Het
Ubr3	A	G	2: 69,991,566	S1391G	probably benign	Het
Vmn1r72	A	T	7: 11,669,707	S271R	probably damaging	Het
Xpo5	G	A	17: 46,236,090		probably null	Het
Zfp592	A	T	7: 81,025,193	H635L	probably damaging	Het
Zfp791	A	T	8: 85,112,215	N62K	probably benign	Het
Zmynd11	G	A	13: 9,695,139	T248M	probably damaging	Het

Other mutations in Rbmxl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01603:Rbmxl1	APN	8	78505830	nonsense	probably null
R1735:Rbmxl1	UTSW	8	78506082	missense	probably damaging	1.00
R4565:Rbmxl1	UTSW	8	78506010	missense	probably benign	0.36
R5781:Rbmxl1	UTSW	8	78505641	unclassified	probably benign
R6093:Rbmxl1	UTSW	8	78505943	missense	probably damaging	1.00
R7028:Rbmxl1	UTSW	8	78506657	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACTAGTACAAGTCAAGTCTTACAC -3'
(R):5'- GCTATGATGATTACAGCAGCTCAC -3'

Sequencing Primer
(F):5'- CTTCACAAGAACACAAAAATGAAGGG -3'
(R):5'- TTACAGCAGCTCACGTGATG -3'

Posted On

2019-11-26