Mutagenetix > Incidental Mutation

Incidental Mutation 'R8935:Rbm6'

680582

Institutional Source

Beutler Lab

Gene Symbol

Rbm6

Ensembl Gene

ENSMUSG00000032582

Gene Name

RNA binding motif protein 6

Synonyms

NY-LU-12, g16, Def-3

MMRRC Submission

068778-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.615) question?

Stock #

R8935 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107650758-107750436 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 107677945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 15 (V15I)

Ref Sequence

ENSEMBL: ENSMUSP00000141953 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035201] [ENSMUST00000181986] [ENSMUST00000183032] [ENSMUST00000195883]

AlphaFold

S4R1W5

Predicted Effect

probably benign
Transcript: ENSMUST00000035201
AA Change: V397I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000035201
Gene: ENSMUSG00000032582
AA Change: V397I

Domain	Start	End	E-Value	Type
internal_repeat_1	4	42	2.66e-5	PROSPERO
low complexity region	61	87	N/A	INTRINSIC
internal_repeat_1	106	157	2.66e-5	PROSPERO
RRM	325	400	2.67e-2	SMART
Blast:ZnF_RBZ	406	430	2e-11	BLAST
RRM	522	601	1.32e-1	SMART
low complexity region	748	765	N/A	INTRINSIC
ZnF_C2H2	818	843	4.34e0	SMART
low complexity region	864	876	N/A	INTRINSIC
G_patch	912	958	7.87e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000181986

Predicted Effect

probably benign
Transcript: ENSMUST00000183032
AA Change: V529I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000138400
Gene: ENSMUSG00000032582
AA Change: V529I

Domain	Start	End	E-Value	Type
internal_repeat_1	43	119	2.42e-5	PROSPERO
internal_repeat_2	46	164	3.18e-5	PROSPERO
internal_repeat_1	121	189	2.42e-5	PROSPERO
low complexity region	193	219	N/A	INTRINSIC
internal_repeat_2	224	319	3.18e-5	PROSPERO
RRM	457	532	2.67e-2	SMART
Blast:ZnF_RBZ	538	562	2e-9	BLAST
RRM	654	733	1.32e-1	SMART
low complexity region	880	897	N/A	INTRINSIC
ZnF_C2H2	950	975	4.34e0	SMART
low complexity region	996	1008	N/A	INTRINSIC
G_patch	1044	1090	7.87e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195883
AA Change: V15I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000141953
Gene: ENSMUSG00000032582
AA Change: V15I

Domain	Start	End	E-Value	Type
Blast:ZnF_RBZ	24	48	9e-12	BLAST

Meta Mutation Damage Score

0.0738

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	G	T	8: 117,698,181 (GRCm39)	Q309K	probably benign	Het
Adam20	T	C	8: 41,247,989 (GRCm39)	V33A	probably benign	Het
Ank	T	C	15: 27,591,112 (GRCm39)	V417A	probably damaging	Het
Arhgef17	C	T	7: 100,527,324 (GRCm39)	V779I	probably benign	Het
Atp6v0a1	T	A	11: 100,929,519 (GRCm39)	F440I	possibly damaging	Het
Brca2	T	G	5: 150,492,446 (GRCm39)	S3154A	possibly damaging	Het
Cdc27	T	C	11: 104,398,026 (GRCm39)	E778G	probably damaging	Het
Cep128	C	T	12: 91,233,770 (GRCm39)	E433K	probably damaging	Het
Cep192	C	T	18: 67,995,543 (GRCm39)	T970I	probably damaging	Het
Chd2	T	C	7: 73,153,210 (GRCm39)	T249A	possibly damaging	Het
Cpd	C	T	11: 76,731,295 (GRCm39)	G304S	probably damaging	Het
Cpsf7	T	A	19: 10,509,345 (GRCm39)	Y85*	probably null	Het
Csf3r	T	A	4: 125,937,200 (GRCm39)	S695T	probably benign	Het
Cyp20a1	A	G	1: 60,410,473 (GRCm39)	Q258R	probably damaging	Het
Ddi2	A	T	4: 141,412,600 (GRCm39)	L104Q	probably damaging	Het
Dpp8	T	C	9: 64,983,066 (GRCm39)	S733P	possibly damaging	Het
Efhd1	A	G	1: 87,217,219 (GRCm39)	D112G	probably damaging	Het
Elapor2	C	T	5: 9,491,764 (GRCm39)	T708M	probably damaging	Het
Fgfr3	A	C	5: 33,892,810 (GRCm39)	D752A	probably damaging	Het
Fmod	C	A	1: 133,968,586 (GRCm39)	H209N	probably benign	Het
Gde1	C	T	7: 118,297,914 (GRCm39)	E101K	possibly damaging	Het
Gldc	C	T	19: 30,109,093 (GRCm39)	R615Q	probably benign	Het
Gli2	T	C	1: 118,764,122 (GRCm39)	E1343G	probably damaging	Het
Gm10800	A	AC	2: 98,497,378 (GRCm39)		probably null	Het
Gm4847	A	G	1: 166,469,789 (GRCm39)	Y95H	probably damaging	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Gtpbp3	A	G	8: 71,945,181 (GRCm39)		probably null	Het
Haspin	A	G	11: 73,026,890 (GRCm39)	F733S	probably damaging	Het
Hgh1	C	G	15: 76,254,592 (GRCm39)	R323G	probably damaging	Het
Idh1	A	T	1: 65,204,378 (GRCm39)	I244N	probably damaging	Het
Idh2	T	C	7: 79,764,946 (GRCm39)	T27A	probably benign	Het
Igkv4-69	T	C	6: 69,260,912 (GRCm39)	T72A	possibly damaging	Het
Lmntd1	A	G	6: 145,489,229 (GRCm39)	Y11H	probably benign	Het
Myt1l	T	C	12: 29,877,243 (GRCm39)	M298T	unknown	Het
Neb	T	C	2: 52,141,780 (GRCm39)	D3009G	probably damaging	Het
Nfya	A	T	17: 48,700,294 (GRCm39)		probably benign	Het
Nsun2	A	G	13: 69,767,586 (GRCm39)	D180G	probably damaging	Het
Or10ag60	A	G	2: 87,438,421 (GRCm39)	T230A	possibly damaging	Het
Or4k50-ps1	A	T	2: 111,522,244 (GRCm39)	Q127L	unknown	Het
Osbpl6	T	C	2: 76,379,800 (GRCm39)	V130A	possibly damaging	Het
Prss44	T	A	9: 110,645,527 (GRCm39)	I94N	probably damaging	Het
Rdh19	C	T	10: 127,685,929 (GRCm39)	L14F	possibly damaging	Het
Rtkn	T	C	6: 83,115,196 (GRCm39)	L14P	probably damaging	Het
Ryr3	A	T	2: 112,508,402 (GRCm39)	N3405K	probably benign	Het
Scp2	T	C	4: 107,950,072 (GRCm39)	E179G	probably damaging	Het
Sema3e	A	T	5: 14,282,127 (GRCm39)	K421I	probably damaging	Het
Sorcs2	C	T	5: 36,193,202 (GRCm39)	V755M	possibly damaging	Het
Spef2	T	C	15: 9,607,436 (GRCm39)	I1328V	probably damaging	Het
Speg	A	T	1: 75,399,250 (GRCm39)	K2232N	probably benign	Het
St7l	A	G	3: 104,778,204 (GRCm39)	I114V	probably damaging	Het
Stkld1	C	T	2: 26,833,941 (GRCm39)	Q143*	probably null	Het
Stox2	T	C	8: 47,645,895 (GRCm39)	T586A	possibly damaging	Het
Supt20	A	G	3: 54,634,988 (GRCm39)		probably null	Het
Tectb	G	T	19: 55,183,132 (GRCm39)	V338L	probably benign	Het
Tiam1	T	C	16: 89,681,821 (GRCm39)	N386D	probably damaging	Het
Trps1	G	A	15: 50,752,344 (GRCm39)	Q2*	probably null	Het
Usp36	C	T	11: 118,167,657 (GRCm39)		probably null	Het
Vmn1r198	C	T	13: 22,539,092 (GRCm39)	Q104*	probably null	Het
Vmn1r38	T	C	6: 66,753,979 (GRCm39)	T46A	probably benign	Het
Vmn2r110	A	G	17: 20,803,957 (GRCm39)	V206A	probably benign	Het
Vmn2r62	T	A	7: 42,437,791 (GRCm39)	D231V	probably benign	Het
Zfp143	T	C	7: 109,669,736 (GRCm39)	L55P	probably damaging	Het

Other mutations in Rbm6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01380:Rbm6	APN	9	107,665,548 (GRCm39)	missense	probably damaging	1.00
IGL01647:Rbm6	APN	9	107,730,081 (GRCm39)	missense	probably benign	0.13
IGL01872:Rbm6	APN	9	107,660,914 (GRCm39)	missense	probably damaging	0.99
IGL02402:Rbm6	APN	9	107,730,051 (GRCm39)	missense	probably damaging	1.00
IGL03024:Rbm6	APN	9	107,664,567 (GRCm39)	missense	probably damaging	0.97
IGL03025:Rbm6	APN	9	107,651,918 (GRCm39)	missense	possibly damaging	0.76
FR4737:Rbm6	UTSW	9	107,659,954 (GRCm39)	frame shift	probably null
G1Funyon:Rbm6	UTSW	9	107,729,993 (GRCm39)	missense	probably damaging	1.00
PIT4402001:Rbm6	UTSW	9	107,665,049 (GRCm39)	missense	probably damaging	1.00
R0511:Rbm6	UTSW	9	107,724,488 (GRCm39)	nonsense	probably null
R1666:Rbm6	UTSW	9	107,669,055 (GRCm39)	missense	probably benign	0.15
R1927:Rbm6	UTSW	9	107,730,102 (GRCm39)	missense	probably damaging	1.00
R2173:Rbm6	UTSW	9	107,729,390 (GRCm39)	missense	possibly damaging	0.79
R2262:Rbm6	UTSW	9	107,668,289 (GRCm39)	missense	probably damaging	1.00
R2439:Rbm6	UTSW	9	107,656,796 (GRCm39)	missense	probably damaging	1.00
R2566:Rbm6	UTSW	9	107,669,197 (GRCm39)	missense	possibly damaging	0.60
R2878:Rbm6	UTSW	9	107,729,649 (GRCm39)	missense	probably damaging	1.00
R4342:Rbm6	UTSW	9	107,724,446 (GRCm39)	intron	probably benign
R4783:Rbm6	UTSW	9	107,730,102 (GRCm39)	missense	probably damaging	1.00
R4785:Rbm6	UTSW	9	107,664,551 (GRCm39)	missense	probably benign	0.06
R5205:Rbm6	UTSW	9	107,665,542 (GRCm39)	missense	probably benign	0.08
R5253:Rbm6	UTSW	9	107,729,856 (GRCm39)	missense	probably damaging	1.00
R5279:Rbm6	UTSW	9	107,655,213 (GRCm39)	missense	probably benign	0.00
R5356:Rbm6	UTSW	9	107,729,865 (GRCm39)	missense	probably damaging	1.00
R6289:Rbm6	UTSW	9	107,655,147 (GRCm39)	missense	probably damaging	1.00
R6328:Rbm6	UTSW	9	107,664,458 (GRCm39)	missense	probably benign	0.00
R6564:Rbm6	UTSW	9	107,710,697 (GRCm39)	missense	probably damaging	1.00
R6887:Rbm6	UTSW	9	107,729,430 (GRCm39)	missense	probably damaging	1.00
R6978:Rbm6	UTSW	9	107,729,774 (GRCm39)	splice site	probably null
R7139:Rbm6	UTSW	9	107,730,410 (GRCm39)	missense	probably damaging	1.00
R7240:Rbm6	UTSW	9	107,730,095 (GRCm39)	missense	probably damaging	1.00
R7330:Rbm6	UTSW	9	107,668,244 (GRCm39)	missense	possibly damaging	0.77
R7397:Rbm6	UTSW	9	107,729,718 (GRCm39)	missense	probably benign
R7590:Rbm6	UTSW	9	107,668,949 (GRCm39)	critical splice donor site	probably null
R7829:Rbm6	UTSW	9	107,729,905 (GRCm39)	missense	probably damaging	1.00
R8301:Rbm6	UTSW	9	107,729,993 (GRCm39)	missense	probably damaging	1.00
R8405:Rbm6	UTSW	9	107,730,016 (GRCm39)	missense	probably benign	0.01
R8784:Rbm6	UTSW	9	107,665,337 (GRCm39)	missense	possibly damaging	0.71
R9036:Rbm6	UTSW	9	107,660,911 (GRCm39)	missense	probably damaging	1.00
R9095:Rbm6	UTSW	9	107,669,089 (GRCm39)	nonsense	probably null
R9227:Rbm6	UTSW	9	107,664,498 (GRCm39)	missense	probably benign
R9276:Rbm6	UTSW	9	107,660,926 (GRCm39)	missense	probably damaging	1.00
R9482:Rbm6	UTSW	9	107,669,208 (GRCm39)	missense	possibly damaging	0.60
R9656:Rbm6	UTSW	9	107,656,778 (GRCm39)	missense	probably damaging	0.99
Z1191:Rbm6	UTSW	9	107,655,171 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TAGGTAGCATGCCTAGAGATATGG -3'
(R):5'- ACACTATTCCAAGTCGCTGG -3'

Sequencing Primer
(F):5'- ATGGAGATGTGGAATCTTGACTTCTC -3'
(R):5'- TATTCCAAGTCGCTGGCATGAAAC -3'

Posted On

2021-08-31