Mutagenetix > Incidental Mutation

Incidental Mutation 'R8372:Rbm42'

646489

Institutional Source

Beutler Lab

Gene Symbol

Rbm42

Ensembl Gene

ENSMUSG00000036733

Gene Name

RNA binding motif protein 42

Synonyms

1700003D06Rik, 3100004P22Rik

MMRRC Submission

067875-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.936) question?

Stock #

R8372 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30340420-30349653 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30340631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 447 (S447P)

Ref Sequence

ENSEMBL: ENSMUSP00000040005 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042726] [ENSMUST00000108141]

AlphaFold

Q91V81

Predicted Effect

unknown
Transcript: ENSMUST00000042726
AA Change: S447P

SMART Domains

Protein: ENSMUSP00000040005
Gene: ENSMUSG00000036733
AA Change: S447P

Domain	Start	End	E-Value	Type
low complexity region	6	31	N/A	INTRINSIC
low complexity region	75	86	N/A	INTRINSIC
low complexity region	101	126	N/A	INTRINSIC
low complexity region	192	217	N/A	INTRINSIC
low complexity region	220	243	N/A	INTRINSIC
low complexity region	247	277	N/A	INTRINSIC
low complexity region	279	333	N/A	INTRINSIC
low complexity region	339	355	N/A	INTRINSIC
RRM	380	453	1.11e-21	SMART
low complexity region	467	474	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000108141
AA Change: S418P

SMART Domains

Protein: ENSMUSP00000103776
Gene: ENSMUSG00000036733
AA Change: S418P

Domain	Start	End	E-Value	Type
low complexity region	6	31	N/A	INTRINSIC
low complexity region	75	86	N/A	INTRINSIC
low complexity region	101	126	N/A	INTRINSIC
low complexity region	163	188	N/A	INTRINSIC
low complexity region	191	214	N/A	INTRINSIC
low complexity region	218	248	N/A	INTRINSIC
low complexity region	250	304	N/A	INTRINSIC
low complexity region	310	326	N/A	INTRINSIC
RRM	351	424	1.11e-21	SMART
low complexity region	438	445	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,682,152 (GRCm39)	D155G	probably damaging	Het
Adgrg7	T	A	16: 56,616,114 (GRCm39)		probably benign	Het
Agap2	T	C	10: 126,925,185 (GRCm39)	S833P	unknown	Het
B4galnt2	T	C	11: 95,760,106 (GRCm39)	E307G	possibly damaging	Het
Bcl9l	A	G	9: 44,418,528 (GRCm39)	M826V	probably benign	Het
C2cd3	C	T	7: 100,104,487 (GRCm39)	Q2167*	probably null	Het
Ccdc7a	T	C	8: 129,547,585 (GRCm39)	E1289G	possibly damaging	Het
Cep290	T	C	10: 100,385,203 (GRCm39)	V1893A	probably benign	Het
Clec4g	T	C	8: 3,757,990 (GRCm39)		probably benign	Het
Cspg4	A	G	9: 56,794,479 (GRCm39)	E738G	probably damaging	Het
Cyth4	A	G	15: 78,481,335 (GRCm39)		probably benign	Het
Dab2	A	C	15: 6,446,406 (GRCm39)	S8R	possibly damaging	Het
Dclk3	A	G	9: 111,314,081 (GRCm39)	D719G	probably damaging	Het
Dync2h1	A	G	9: 7,111,514 (GRCm39)	V2540A	possibly damaging	Het
Elavl1	T	C	8: 4,339,664 (GRCm39)	N306S	probably damaging	Het
Ercc6l2	T	C	13: 64,001,563 (GRCm39)	V459A	probably damaging	Het
Fcgr2b	A	G	1: 170,793,330 (GRCm39)	V233A	probably benign	Het
Gfm2	T	C	13: 97,301,552 (GRCm39)	S452P	possibly damaging	Het
Gpr15	A	G	16: 58,538,850 (GRCm39)	F80L	probably benign	Het
Ighv13-2	A	T	12: 114,321,681 (GRCm39)	C19*	probably null	Het
Kcnq5	G	A	1: 21,549,648 (GRCm39)	R360C	probably damaging	Het
Klhl33	C	T	14: 51,129,689 (GRCm39)	R312Q	probably damaging	Het
Klhl9	A	G	4: 88,639,596 (GRCm39)	L215P	probably damaging	Het
Krtap20-1	G	C	16: 88,812,385 (GRCm39)	G57R	unknown	Het
Or9k2b	A	G	10: 130,016,656 (GRCm39)	F31S	probably damaging	Het
Parp8	T	A	13: 116,991,786 (GRCm39)	Q872H	probably damaging	Het
Plxnb2	A	G	15: 89,042,696 (GRCm39)	S1531P	probably damaging	Het
Psg16	A	G	7: 16,829,240 (GRCm39)	T275A	probably benign	Het
Ptprk	A	G	10: 28,230,688 (GRCm39)	T260A	possibly damaging	Het
Rapgef1	G	A	2: 29,600,243 (GRCm39)	G655S	probably damaging	Het
Rbm15b	T	C	9: 106,762,762 (GRCm39)	M19V		Het
Rsf1	T	C	7: 97,311,624 (GRCm39)	S785P		Het
Scnn1a	A	G	6: 125,320,681 (GRCm39)	N578S	probably damaging	Het
Slc39a7	T	C	17: 34,249,639 (GRCm39)	N169D	probably damaging	Het
Spp1	A	G	5: 104,588,122 (GRCm39)	T175A	probably benign	Het
Tigd5	A	G	15: 75,782,337 (GRCm39)	H233R	probably benign	Het
Tmprss3	C	T	17: 31,403,671 (GRCm39)	V377I	probably benign	Het
Vmn1r75	A	T	7: 11,614,657 (GRCm39)	I130F	probably benign	Het
Xpo4	A	G	14: 57,835,341 (GRCm39)		probably null	Het
Xrn1	A	G	9: 95,906,166 (GRCm39)	T1186A	probably benign	Het
Zcchc4	T	C	5: 52,953,506 (GRCm39)	Y172H	probably damaging	Het

Other mutations in Rbm42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02139:Rbm42	APN	7	30,345,130 (GRCm39)	missense	unknown
R0115:Rbm42	UTSW	7	30,347,200 (GRCm39)	missense	probably damaging	1.00
R0285:Rbm42	UTSW	7	30,345,265 (GRCm39)	missense	possibly damaging	0.93
R2144:Rbm42	UTSW	7	30,340,535 (GRCm39)	makesense	probably null
R3122:Rbm42	UTSW	7	30,349,152 (GRCm39)	unclassified	probably benign
R6369:Rbm42	UTSW	7	30,340,738 (GRCm39)	missense	unknown
R8080:Rbm42	UTSW	7	30,345,136 (GRCm39)	missense	unknown
R8329:Rbm42	UTSW	7	30,344,582 (GRCm39)	missense	unknown
R9567:Rbm42	UTSW	7	30,345,395 (GRCm39)	missense	possibly damaging	0.95
Z1186:Rbm42	UTSW	7	30,349,578 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCAACAGTTTCTAAGTCCAGTC -3'
(R):5'- AAGGGCTATGGCTTTGTCAG -3'

Sequencing Primer
(F):5'- ACAGTTTCTAAGTCCAGTCAGGGATG -3'
(R):5'- TTTGTCAGCTTCAAAGACCCCAG -3'

Posted On

2020-09-02