Mutagenetix > Incidental Mutation

Incidental Mutation 'R9095:Rbm6'

691298

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

068910-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.615) question?

Stock #

R9095 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107650758-107750436 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 107669089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 608 (Q608*)

Ref Sequence

ENSEMBL: ENSMUSP00000138400 (fasta)

Gene Model

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

AlphaFold

S4R1W5

Predicted Effect

probably null
Transcript: ENSMUST00000035201
AA Change: Q476*

SMART Domains

Protein: ENSMUSP00000035201
Gene: ENSMUSG00000032582
AA Change: Q476*

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 null
Transcript: ENSMUST00000183032
AA Change: Q608*

SMART Domains

Protein: ENSMUSP00000138400
Gene: ENSMUSG00000032582
AA Change: Q608*

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 null
Transcript: ENSMUST00000194436
AA Change: Q13*

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

Meta Mutation Damage Score

0.9713

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	C	T	17: 24,500,370 (GRCm39)	V1274M	probably damaging	Het
Abca4	A	G	3: 121,967,556 (GRCm39)	H2202R	possibly damaging	Het
Ablim3	A	G	18: 61,953,463 (GRCm39)	L350P	probably benign	Het
Adamts17	C	T	7: 66,654,117 (GRCm39)	T449I	probably damaging	Het
Ankrd39	T	A	1: 36,586,241 (GRCm39)	D9V	probably benign	Het
Arhgef7	T	C	8: 11,835,819 (GRCm39)	V192A	probably damaging	Het
Art4	C	T	6: 136,834,269 (GRCm39)		probably benign	Het
Atg4a-ps	A	T	3: 103,553,254 (GRCm39)	V29E	possibly damaging	Het
Ccdc180	A	T	4: 45,949,466 (GRCm39)	K1574*	probably null	Het
Cfap54	T	G	10: 92,846,882 (GRCm39)	T1028P	probably damaging	Het
Clip2	C	T	5: 134,532,254 (GRCm39)	R517H	possibly damaging	Het
Col5a1	A	G	2: 27,914,665 (GRCm39)	T94A	probably benign	Het
Cpne1	T	A	2: 155,918,210 (GRCm39)		probably null	Het
Csnk2a1-ps3	A	T	1: 156,352,213 (GRCm39)	Y138F	probably benign	Het
Cyp2f2	T	A	7: 26,830,667 (GRCm39)	M346K	possibly damaging	Het
D130040H23Rik	AAGAATATATTCTACAGAATATA	AAGAATATA	8: 69,755,748 (GRCm39)		probably null	Het
Ddi2	T	A	4: 141,419,590 (GRCm39)	I387F	probably benign	Het
Dsg1b	A	G	18: 20,523,282 (GRCm39)	N103S	probably damaging	Het
Duxf3	GCCC	GCC	10: 58,066,944 (GRCm39)		probably null	Het
Dysf	A	G	6: 84,156,666 (GRCm39)	I1464V	probably benign	Het
Epha2	A	G	4: 141,044,012 (GRCm39)	Y314C	possibly damaging	Het
Etl4	A	G	2: 20,782,964 (GRCm39)	E675G	probably damaging	Het
Fam114a1	A	C	5: 65,188,733 (GRCm39)	I488L	probably benign	Het
Fbxo31	G	A	8: 122,281,136 (GRCm39)	R337C	probably damaging	Het
Fn1	A	C	1: 71,647,149 (GRCm39)	I1547S	probably null	Het
Garre1	A	T	7: 33,956,770 (GRCm39)		probably null	Het
Get1	T	A	16: 95,954,244 (GRCm39)		probably benign	Het
Gm14305	T	A	2: 176,413,045 (GRCm39)	Y312*	probably null	Het
Golm2	T	A	2: 121,756,096 (GRCm39)	L375Q	probably damaging	Het
Gpihbp1	A	G	15: 75,469,641 (GRCm39)	T119A	possibly damaging	Het
Harbi1	T	G	2: 91,542,980 (GRCm39)	V147G	probably damaging	Het
Ifit1bl1	T	C	19: 34,571,899 (GRCm39)	Y186C	probably damaging	Het
Ighv13-2	C	A	12: 114,321,494 (GRCm39)	A82S	probably benign	Het
Itpr1	T	A	6: 108,364,352 (GRCm39)	D827E	probably benign	Het
Krtap4-2	C	T	11: 99,525,801 (GRCm39)	G17D	unknown	Het
Ly6a	A	T	15: 74,867,333 (GRCm39)		probably benign	Het
Mad1l1	C	T	5: 140,288,741 (GRCm39)	E203K	probably damaging	Het
Mapk14	C	A	17: 28,934,413 (GRCm39)	D101E	probably benign	Het
Meis3	G	T	7: 15,917,764 (GRCm39)	G306W	probably damaging	Het
Mixl1	T	C	1: 180,524,402 (GRCm39)	D59G	probably benign	Het
Nav2	G	A	7: 49,254,293 (GRCm39)	V2364M	probably damaging	Het
Nell1	T	C	7: 50,506,150 (GRCm39)	S786P	possibly damaging	Het
Or13a25	T	G	7: 140,247,813 (GRCm39)	N197K	probably damaging	Het
Or51e2	C	A	7: 102,391,473 (GRCm39)	V246L	possibly damaging	Het
Or51g1	A	G	7: 102,633,687 (GRCm39)	L228P	probably damaging	Het
Or5b107	T	G	19: 13,143,310 (GRCm39)	S311A	probably benign	Het
Pcdhgb8	A	T	18: 37,896,052 (GRCm39)	D374V	probably damaging	Het
Phactr2	A	G	10: 13,129,386 (GRCm39)	I294T	probably benign	Het
Plekha4	C	T	7: 45,190,492 (GRCm39)	A400V	probably damaging	Het
Pramel21	T	C	4: 143,341,760 (GRCm39)	F63S	probably damaging	Het
Pramel4	C	A	4: 143,794,928 (GRCm39)	D441E	probably benign	Het
Prr12	G	A	7: 44,695,267 (GRCm39)	P1400S	unknown	Het
Prss3b	T	A	6: 41,010,038 (GRCm39)	N99Y	possibly damaging	Het
Scamp1	T	A	13: 94,369,598 (GRCm39)	I76F	probably benign	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Sirt1	A	T	10: 63,158,077 (GRCm39)	S446T	probably damaging	Het
Slc25a54	A	G	3: 109,019,404 (GRCm39)	K336R	probably benign	Het
Spag17	G	T	3: 99,912,092 (GRCm39)	V321F	possibly damaging	Het
Sstr1	A	G	12: 58,259,620 (GRCm39)	Y81C	probably damaging	Het
St8sia4	T	C	1: 95,519,525 (GRCm39)	K321R	probably damaging	Het
Stac3	T	C	10: 127,343,584 (GRCm39)	F242S	probably damaging	Het
Tanc2	T	G	11: 105,758,104 (GRCm39)	S622A	probably benign	Het
Tcf4	G	A	18: 69,598,464 (GRCm39)	D106N	possibly damaging	Het
Tfrc	T	A	16: 32,433,571 (GRCm39)	I75N	possibly damaging	Het
Tigd2	G	A	6: 59,187,509 (GRCm39)	W125*	probably null	Het
Tjp1	T	C	7: 64,952,745 (GRCm39)	T1530A	possibly damaging	Het
Tmem132a	T	A	19: 10,844,412 (GRCm39)	H62L	probably benign	Het
Tmem89	T	C	9: 108,743,729 (GRCm39)	S10P	unknown	Het
Trrap	C	T	5: 144,733,961 (GRCm39)	P938L	probably damaging	Het
Unc80	C	A	1: 66,545,912 (GRCm39)	P488T	probably damaging	Het
Uri1	C	A	7: 37,662,873 (GRCm39)	G374C	probably damaging	Het
Utp20	T	C	10: 88,611,180 (GRCm39)	N1379S	probably damaging	Het
Vcan	G	T	13: 89,852,644 (GRCm39)	T772K	probably benign	Het
Zbtb37	A	T	1: 160,847,941 (GRCm39)	Y355*	probably null	Het
Zfp3	A	G	11: 70,662,405 (GRCm39)	I121M	probably benign	Het
Zfp629	A	T	7: 127,209,547 (GRCm39)	L754Q	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
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
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'- CTTCCAACCTGTCACATAATTTGAC -3'
(R):5'- TGTGTCTGTGTGAGTATAAACCAC -3'

Sequencing Primer
(F):5'- CCTGTCACATAATTTGACAAATCAC -3'
(R):5'- CCTACGGGTATGTATGTGTACCAC -3'

Posted On

2021-12-30