Mutagenetix > Incidental Mutation

Incidental Mutation 'R7397:Rbm6'

573902

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

045479-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.570) question?

Stock #

R7397 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107650758-107750436 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107729718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 310 (M310T)

Ref Sequence

ENSEMBL: ENSMUSP00000138400 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035201] [ENSMUST00000181986] [ENSMUST00000183032] [ENSMUST00000183035] [ENSMUST00000195866] [ENSMUST00000195883]

AlphaFold

S4R1W5

Predicted Effect

probably benign
Transcript: ENSMUST00000035201
AA Change: M178T

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000035201
Gene: ENSMUSG00000032582
AA Change: M178T

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: M310T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138400
Gene: ENSMUSG00000032582
AA Change: M310T

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: ENSMUST00000183035

Predicted Effect

probably benign
Transcript: ENSMUST00000195866

Predicted Effect

probably benign
Transcript: ENSMUST00000195883

SMART Domains

Protein: ENSMUSP00000141953
Gene: ENSMUSG00000032582

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

Coding Region Coverage

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

Validation Efficiency

100% (77/77)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	T	C	2: 155,845,848 (GRCm39)	H3R	unknown	Het
Adam18	T	A	8: 25,136,321 (GRCm39)	E400V	possibly damaging	Het
Ak5	A	T	3: 152,183,989 (GRCm39)	F473I	probably damaging	Het
Arhgef10l	G	A	4: 140,290,115 (GRCm39)	P486S	probably damaging	Het
Asphd1	T	A	7: 126,548,001 (GRCm39)	R101W	possibly damaging	Het
Bhlha15	G	A	5: 144,128,223 (GRCm39)	E112K	probably damaging	Het
C4b	A	T	17: 34,961,364 (GRCm39)	D198E	possibly damaging	Het
Carmil1	G	T	13: 24,228,294 (GRCm39)	P961T	probably damaging	Het
Catsperb	T	C	12: 101,554,282 (GRCm39)	S659P	possibly damaging	Het
Cdh3	C	T	8: 107,263,241 (GRCm39)	R97*	probably null	Het
Cep192	T	C	18: 67,989,268 (GRCm39)	I1805T	probably damaging	Het
Cep250	T	G	2: 155,823,331 (GRCm39)	L995R	probably damaging	Het
Cfap276	T	A	3: 108,450,864 (GRCm39)	I102N	probably benign	Het
Cfap53	T	C	18: 74,416,294 (GRCm39)	V9A	possibly damaging	Het
Chd5	A	G	4: 152,452,469 (GRCm39)	K809E	possibly damaging	Het
Csmd3	T	C	15: 47,559,130 (GRCm39)	T1467A		Het
Ctla2a	T	A	13: 61,083,463 (GRCm39)	R60S	probably damaging	Het
Cts6	A	T	13: 61,350,014 (GRCm39)	D22E	possibly damaging	Het
Ctsll3	T	A	13: 60,948,532 (GRCm39)	E109V	probably benign	Het
Dgka	G	A	10: 128,556,594 (GRCm39)	P701S	possibly damaging	Het
Dnhd1	A	T	7: 105,354,504 (GRCm39)	I3089F	possibly damaging	Het
Dock2	T	A	11: 34,609,816 (GRCm39)	D208V	probably benign	Het
Fnbp1l	G	T	3: 122,338,286 (GRCm39)	Q520K	probably benign	Het
Foxc1	A	G	13: 31,991,618 (GRCm39)	D143G	probably damaging	Het
Fsip2	G	A	2: 82,815,601 (GRCm39)	R3778Q	possibly damaging	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gm4871	A	T	5: 144,969,508 (GRCm39)	C4S	probably damaging	Het
Gpt	C	A	15: 76,582,717 (GRCm39)	T294K	probably benign	Het
Hsd17b4	G	T	18: 50,279,491 (GRCm39)	G157C	probably damaging	Het
Iars1	G	A	13: 49,882,153 (GRCm39)	E1066K	probably benign	Het
Ifih1	G	A	2: 62,453,832 (GRCm39)	T260I	possibly damaging	Het
Ighv5-8	TATATATATATATATATATATA	TATATATATATATATATATATATA	12: 113,618,565 (GRCm39)		probably null	Het
Ipcef1	T	A	10: 6,922,244 (GRCm39)	*338R	probably null	Het
Kif20a	A	G	18: 34,760,729 (GRCm39)	T166A	probably damaging	Het
Map3k1	G	A	13: 111,891,742 (GRCm39)	A1171V	probably damaging	Het
Map3k21	T	C	8: 126,661,855 (GRCm39)	F484S	probably damaging	Het
Mbnl1	A	T	3: 60,523,051 (GRCm39)	Q180L	probably benign	Het
Mmp2	T	C	8: 93,562,755 (GRCm39)	F331L	possibly damaging	Het
Ms4a7	G	T	19: 11,298,916 (GRCm39)	H257N	probably benign	Het
Mtbp	T	A	15: 55,432,547 (GRCm39)	S285T	probably benign	Het
Mtrex	A	T	13: 113,058,220 (GRCm39)	D70E	probably benign	Het
Myo1c	A	G	11: 75,562,068 (GRCm39)	N852S	probably benign	Het
Myom3	T	A	4: 135,510,429 (GRCm39)	F574Y	probably damaging	Het
Nbeal2	A	G	9: 110,457,100 (GRCm39)	I2322T	possibly damaging	Het
Nlrp10	A	G	7: 108,523,899 (GRCm39)	L527P	probably damaging	Het
Nudt16l2	A	T	9: 105,021,621 (GRCm39)	W142R	probably damaging	Het
Nxnl1	C	T	8: 72,019,105 (GRCm39)	G40D	probably damaging	Het
Or52n1	C	T	7: 104,382,815 (GRCm39)	C252Y	possibly damaging	Het
Or5af1	C	T	11: 58,722,115 (GRCm39)	T45M	probably benign	Het
Otof	A	T	5: 30,533,051 (GRCm39)	W1564R	probably damaging	Het
Pcdhga7	A	G	18: 37,850,327 (GRCm39)	Y778C	probably benign	Het
Pcnx2	C	T	8: 126,617,624 (GRCm39)		probably null	Het
Pdpr	T	A	8: 111,839,385 (GRCm39)	N169K	possibly damaging	Het
Pkd1l2	C	A	8: 117,762,641 (GRCm39)	V1379F	possibly damaging	Het
Ppp4r1	T	G	17: 66,144,786 (GRCm39)	I801S	probably benign	Het
Ppp4r4	A	T	12: 103,579,065 (GRCm39)		probably null	Het
Prl2c5	A	G	13: 13,366,327 (GRCm39)	D202G	probably benign	Het
Rap1gap2	T	C	11: 74,305,237 (GRCm39)	T323A	probably benign	Het
Rapgef4	T	C	2: 72,036,010 (GRCm39)	M501T	probably benign	Het
Rdh1	A	T	10: 127,596,047 (GRCm39)	I81F	probably benign	Het
Rock1	C	T	18: 10,097,599 (GRCm39)	A730T	possibly damaging	Het
Rsl1	C	T	13: 67,330,101 (GRCm39)	T183I	possibly damaging	Het
Scyl3	T	C	1: 163,778,487 (GRCm39)		probably null	Het
Snap29	T	C	16: 17,237,236 (GRCm39)	F116L	probably damaging	Het
Syt5	A	T	7: 4,545,395 (GRCm39)		probably null	Het
Tat	T	C	8: 110,724,200 (GRCm39)	L363P	probably damaging	Het
Ttn	A	G	2: 76,601,316 (GRCm39)	V18719A	possibly damaging	Het
Ube2e2	T	A	14: 18,630,339 (GRCm38)	D107V	probably damaging	Het
Vmn1r64	A	G	7: 5,887,013 (GRCm39)	S177P	possibly damaging	Het
Vmn1r91	A	T	7: 19,835,695 (GRCm39)	T205S	possibly damaging	Het
Vmn2r124	T	C	17: 18,282,947 (GRCm39)	W214R	probably damaging	Het
Vmn2r25	A	T	6: 123,800,498 (GRCm39)	F615I	probably damaging	Het
Vmn2r91	G	T	17: 18,356,060 (GRCm39)	V576L	probably benign	Het
Vsig10l	A	C	7: 43,117,431 (GRCm39)	T573P	probably damaging	Het
Wdr93	A	G	7: 79,416,172 (GRCm39)	Q276R	probably null	Het
Zc3h7b	T	C	15: 81,653,354 (GRCm39)	V86A	possibly damaging	Het
Zeb1	T	A	18: 5,761,394 (GRCm39)	Y231N	probably damaging	Het
Zfp407	T	C	18: 84,579,944 (GRCm39)	K390E	possibly damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	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
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
R8935:Rbm6	UTSW	9	107,677,945 (GRCm39)	missense	probably benign	0.02
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'- GACCAGCATCTGAACTCTGTTG -3'
(R):5'- GGATACACCACATTCGGATTTC -3'

Sequencing Primer
(F):5'- GAACTCTGTTGTTCACCTCCAGAAAG -3'
(R):5'- CCACATTCGGATTTCAGAGGTAGAC -3'

Posted On

2019-09-13