Mutagenetix > Incidental Mutation

Incidental Mutation 'R6940:Ranbp3l'

540516

Institutional Source

Beutler Lab

Gene Symbol

Ranbp3l

Ensembl Gene

ENSMUSG00000048424

Gene Name

RAN binding protein 3-like

Synonyms

C130037N17Rik

MMRRC Submission

045054-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R6940 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8997433-9067417 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9041792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 61 (S61G)

Ref Sequence

ENSEMBL: ENSMUSP00000154327 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053308] [ENSMUST00000227191]

AlphaFold

Q6PDH4

Predicted Effect

probably benign
Transcript: ENSMUST00000053308
AA Change: S197G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000055750
Gene: ENSMUSG00000048424
AA Change: S197G

Domain	Start	End	E-Value	Type
low complexity region	19	31	N/A	INTRINSIC
low complexity region	118	129	N/A	INTRINSIC
low complexity region	191	197	N/A	INTRINSIC
RanBD	302	430	4.52e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000227191
AA Change: S61G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	C	A	9: 54,516,381 (GRCm39)	A667S	probably benign	Het
Ank2	G	A	3: 126,735,621 (GRCm39)		probably benign	Het
Arhgef28	A	G	13: 98,102,038 (GRCm39)	L812P	possibly damaging	Het
Armc5	C	T	7: 127,839,470 (GRCm39)	R263*	probably null	Het
Cadps2	A	T	6: 23,302,491 (GRCm39)	V740E	probably damaging	Het
Cckbr	T	C	7: 105,084,103 (GRCm39)	V279A	probably benign	Het
Cd101	T	C	3: 100,911,018 (GRCm39)	D880G	probably damaging	Het
Cep350	A	T	1: 155,804,297 (GRCm39)	S929T	probably benign	Het
Chaf1b	G	A	16: 93,702,853 (GRCm39)	R556H	probably benign	Het
Csn1s1	A	T	5: 87,822,882 (GRCm39)	Q69L	possibly damaging	Het
Dennd1b	T	C	1: 138,981,155 (GRCm39)		probably null	Het
Dnah11	T	C	12: 118,162,503 (GRCm39)	D22G	probably benign	Het
Dnah7a	T	C	1: 53,670,836 (GRCm39)	H472R	probably benign	Het
Dnah7b	G	A	1: 46,158,428 (GRCm39)	R337H	probably benign	Het
Eif2ak3	T	C	6: 70,869,386 (GRCm39)	V691A	possibly damaging	Het
Ern2	T	C	7: 121,785,369 (GRCm39)	R3G	probably benign	Het
Fat3	T	C	9: 15,828,096 (GRCm39)		probably null	Het
Fnbp4	T	C	2: 90,575,858 (GRCm39)	F20L	unknown	Het
Gtf2b	C	A	3: 142,484,016 (GRCm39)	D63E	probably damaging	Het
Hydin	A	G	8: 111,217,243 (GRCm39)	Y1377C	probably damaging	Het
Klf1	A	G	8: 85,628,724 (GRCm39)	T41A	possibly damaging	Het
Lce3d	G	A	3: 92,865,541 (GRCm39)	S52N	unknown	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lrrfip1	T	A	1: 91,050,135 (GRCm39)		probably null	Het
Ltbp4	A	C	7: 27,008,369 (GRCm39)	V1313G	probably damaging	Het
Morc1	C	A	16: 48,300,208 (GRCm39)	S235*	probably null	Het
Mr1	T	G	1: 155,005,014 (GRCm39)	*342S	probably null	Het
Muc21	C	A	17: 35,934,118 (GRCm39)		probably benign	Het
Nol4l	T	A	2: 153,253,684 (GRCm39)	S630C	probably benign	Het
Nr4a3	C	T	4: 48,051,486 (GRCm39)	P80L	probably benign	Het
Or51a43	A	G	7: 103,717,620 (GRCm39)	I206T	possibly damaging	Het
Otof	A	G	5: 30,528,987 (GRCm39)	V1807A	probably damaging	Het
Pde5a	T	A	3: 122,572,681 (GRCm39)	V354E	possibly damaging	Het
Pmfbp1	A	T	8: 110,251,823 (GRCm39)	E355D	probably damaging	Het
Ppp2r2c	A	G	5: 37,084,875 (GRCm39)	D112G	probably damaging	Het
Prkacb	A	T	3: 146,457,254 (GRCm39)	I37N	probably damaging	Het
Prox2	T	C	12: 85,141,348 (GRCm39)	D285G	probably benign	Het
Rnf214	T	A	9: 45,802,196 (GRCm39)	T289S	probably damaging	Het
Rnf217	G	T	10: 31,381,973 (GRCm39)		probably null	Het
Sc5d	A	T	9: 42,166,723 (GRCm39)	M272K	probably benign	Het
Slco6c1	T	C	1: 97,000,626 (GRCm39)	T542A	possibly damaging	Het
Sord	T	A	2: 122,094,536 (GRCm39)	I308N	probably damaging	Het
Syvn1	A	T	19: 6,101,214 (GRCm39)		probably benign	Het
Tas2r134	A	G	2: 51,518,148 (GRCm39)	H209R	probably benign	Het
Trak1	T	C	9: 121,272,784 (GRCm39)	V214A	possibly damaging	Het
Trpm5	C	A	7: 142,638,547 (GRCm39)	E322*	probably null	Het
Ttf2	T	C	3: 100,876,831 (GRCm39)	T17A	probably damaging	Het
Vmn2r53	T	C	7: 12,316,343 (GRCm39)	E492G	probably benign	Het
Xndc1	T	C	7: 101,727,094 (GRCm39)	V161A	probably benign	Het

Other mutations in Ranbp3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01746:Ranbp3l	APN	15	9,063,167 (GRCm39)	nonsense	probably null
IGL01982:Ranbp3l	APN	15	9,058,827 (GRCm39)	missense	probably damaging	0.99
IGL02549:Ranbp3l	APN	15	8,997,925 (GRCm39)	missense	possibly damaging	0.66
IGL03170:Ranbp3l	APN	15	9,029,611 (GRCm39)	missense	probably damaging	1.00
IGL03338:Ranbp3l	APN	15	9,060,940 (GRCm39)	missense	probably damaging	1.00
PIT4791001:Ranbp3l	UTSW	15	9,060,829 (GRCm39)	missense	probably damaging	1.00
R0137:Ranbp3l	UTSW	15	9,063,067 (GRCm39)	missense	probably damaging	1.00
R0383:Ranbp3l	UTSW	15	9,063,184 (GRCm39)	missense	possibly damaging	0.48
R0699:Ranbp3l	UTSW	15	9,058,850 (GRCm39)	critical splice donor site	probably null
R1517:Ranbp3l	UTSW	15	9,065,081 (GRCm39)	nonsense	probably null
R1629:Ranbp3l	UTSW	15	9,065,068 (GRCm39)	missense	probably damaging	0.99
R1922:Ranbp3l	UTSW	15	9,057,206 (GRCm39)	missense	probably damaging	1.00
R2058:Ranbp3l	UTSW	15	9,029,641 (GRCm39)	missense	probably damaging	1.00
R2265:Ranbp3l	UTSW	15	9,057,194 (GRCm39)	missense	probably damaging	0.99
R2512:Ranbp3l	UTSW	15	8,997,949 (GRCm39)	missense	probably benign	0.00
R4077:Ranbp3l	UTSW	15	9,060,838 (GRCm39)	missense	probably damaging	1.00
R4079:Ranbp3l	UTSW	15	9,060,838 (GRCm39)	missense	probably damaging	1.00
R4179:Ranbp3l	UTSW	15	9,057,279 (GRCm39)	missense	possibly damaging	0.62
R5227:Ranbp3l	UTSW	15	9,037,186 (GRCm39)	missense	probably damaging	0.99
R5265:Ranbp3l	UTSW	15	9,037,077 (GRCm39)	missense	probably benign	0.01
R5722:Ranbp3l	UTSW	15	9,029,656 (GRCm39)	missense	probably damaging	0.98
R5751:Ranbp3l	UTSW	15	9,063,169 (GRCm39)	missense	probably damaging	1.00
R5976:Ranbp3l	UTSW	15	9,030,916 (GRCm39)	missense	possibly damaging	0.85
R6504:Ranbp3l	UTSW	15	8,997,946 (GRCm39)	missense	probably benign	0.27
R6850:Ranbp3l	UTSW	15	9,058,808 (GRCm39)	missense	probably damaging	1.00
R7009:Ranbp3l	UTSW	15	9,063,064 (GRCm39)	missense	probably damaging	1.00
R7018:Ranbp3l	UTSW	15	9,037,159 (GRCm39)	missense	probably benign	0.00
R7019:Ranbp3l	UTSW	15	9,057,241 (GRCm39)	missense	probably damaging	0.99
R7250:Ranbp3l	UTSW	15	9,041,853 (GRCm39)	missense	probably benign
R7352:Ranbp3l	UTSW	15	8,997,842 (GRCm39)	start gained	probably benign
R7483:Ranbp3l	UTSW	15	9,030,955 (GRCm39)	missense	possibly damaging	0.86
R8210:Ranbp3l	UTSW	15	9,065,059 (GRCm39)	missense	probably benign	0.00
R9255:Ranbp3l	UTSW	15	9,057,293 (GRCm39)	missense	probably benign	0.00
R9389:Ranbp3l	UTSW	15	9,057,304 (GRCm39)	missense	probably damaging	1.00
R9511:Ranbp3l	UTSW	15	9,041,991 (GRCm39)	intron	probably benign
R9513:Ranbp3l	UTSW	15	9,037,176 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATGTAAACTGTGGGCAGCG -3'
(R):5'- ACCATATGTGCATTCAGATGTCAC -3'

Sequencing Primer
(F):5'- CTGTGGGCAGCGGAAGTAC -3'
(R):5'- GTGCATTCAGATGTCACAAAAATC -3'

Posted On

2018-11-06