Mutagenetix > Incidental Mutation

Incidental Mutation 'R8210:Ranbp3l'

636140

Institutional Source

Beutler Lab

Gene Symbol

Ranbp3l

Ensembl Gene

ENSMUSG00000048424

Gene Name

RAN binding protein 3-like

Synonyms

C130037N17Rik

MMRRC Submission

067633-MU

Accession Numbers

Essential gene?

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

Stock #

R8210 (G1)

Quality Score

196.009

Status

Validated

Chromosome

Chromosomal Location

8997433-9067417 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 9065059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 482 (S482I)

Ref Sequence

ENSEMBL: ENSMUSP00000055750 (fasta)

Gene Model

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

AlphaFold

Q6PDH4

Predicted Effect

probably benign
Transcript: ENSMUST00000053308
AA Change: S482I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000055750
Gene: ENSMUSG00000048424
AA Change: S482I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	G	A	9: 54,517,083 (GRCm39)	P577S	probably damaging	Het
Adal	T	C	2: 120,985,236 (GRCm39)	V269A	possibly damaging	Het
Adam33	T	C	2: 130,898,250 (GRCm39)	T155A	probably benign	Het
Adgre1	A	T	17: 57,752,061 (GRCm39)	E603V	possibly damaging	Het
Adgrf4	T	C	17: 42,978,441 (GRCm39)	T301A	probably damaging	Het
Agtpbp1	G	T	13: 59,630,385 (GRCm39)	A782E	possibly damaging	Het
Ank3	A	T	10: 69,811,925 (GRCm39)	K1197N	possibly damaging	Het
Anxa9	A	T	3: 95,213,207 (GRCm39)	D46E	probably damaging	Het
Atg9a	T	C	1: 75,161,927 (GRCm39)	T540A	probably damaging	Het
Atg9a	A	G	1: 75,163,009 (GRCm39)	Y364H	probably damaging	Het
Bltp1	A	C	3: 37,067,030 (GRCm39)	E73A		Het
Cd300c2	C	T	11: 114,891,634 (GRCm39)	G80D	possibly damaging	Het
Cebpz	T	C	17: 79,230,685 (GRCm39)	E844G	probably benign	Het
Celsr1	T	C	15: 85,863,436 (GRCm39)	I1199V	probably benign	Het
Cftr	A	G	6: 18,220,696 (GRCm39)	N189S	probably damaging	Het
Dhrs13	G	T	11: 77,924,302 (GRCm39)	R116I	unknown	Het
Dnah10	A	G	5: 124,827,858 (GRCm39)	M735V	probably benign	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
E130208F15Rik	C	A	7: 30,021,619 (GRCm39)	S93*	probably null	Het
E330034G19Rik	T	C	14: 24,346,104 (GRCm39)	I92T		Het
Eef1d	A	T	15: 75,768,309 (GRCm39)	V511D	probably damaging	Het
Efna1	T	G	3: 89,183,520 (GRCm39)	E102A	probably damaging	Het
H2-M11	C	A	17: 36,858,860 (GRCm39)	F133L	probably damaging	Het
Htr3b	G	T	9: 48,847,343 (GRCm39)		probably null	Het
Kcns3	A	G	12: 11,142,253 (GRCm39)	S149P	probably damaging	Het
Lhx4	T	A	1: 155,586,214 (GRCm39)		probably null	Het
Lrp1	C	T	10: 127,412,354 (GRCm39)	V1317M	probably damaging	Het
Mphosph9	A	G	5: 124,405,174 (GRCm39)	I799T	probably damaging	Het
Muc1	C	T	3: 89,138,906 (GRCm39)	A505V	probably damaging	Het
Muc6	C	A	7: 141,235,673 (GRCm39)		probably null	Het
Mylk	A	G	16: 34,820,721 (GRCm39)	D1891G	probably damaging	Het
Nfe2l3	A	T	6: 51,428,065 (GRCm39)	H209L	probably benign	Het
Nprl2	A	C	9: 107,421,947 (GRCm39)	Y241S	probably damaging	Het
Oprm1	A	T	10: 6,780,442 (GRCm39)	Q368L	probably benign	Het
Or4g7	T	A	2: 111,309,753 (GRCm39)	M208K	possibly damaging	Het
Pcm1	C	T	8: 41,766,974 (GRCm39)	R1593C	probably damaging	Het
Pitpnm1	T	C	19: 4,162,878 (GRCm39)		probably null	Het
Pnoc	A	G	14: 65,642,521 (GRCm39)	S81P	probably benign	Het
Prkg2	T	A	5: 99,114,393 (GRCm39)	D585V	probably damaging	Het
Prpf38b	A	T	3: 108,815,148 (GRCm39)		probably benign	Het
Rapgef4	T	C	2: 72,056,364 (GRCm39)	F651L	probably benign	Het
Rasgrf1	A	G	9: 89,793,675 (GRCm39)	T151A	unknown	Het
Rnf215	T	C	11: 4,085,544 (GRCm39)	L91P	possibly damaging	Het
Rph3a	T	C	5: 121,099,312 (GRCm39)	H193R	probably benign	Het
Rps17	C	T	7: 80,994,750 (GRCm39)	V4I	probably benign	Het
Sec61a2	A	T	2: 5,881,728 (GRCm39)	F234Y	possibly damaging	Het
Serpinb8	T	C	1: 107,526,736 (GRCm39)	L92P	probably damaging	Het
Slc1a6	A	T	10: 78,632,091 (GRCm39)	I306F	possibly damaging	Het
Slc26a11	T	C	11: 119,270,692 (GRCm39)	V538A	possibly damaging	Het
Slc27a1	G	A	8: 72,032,566 (GRCm39)	S193N	probably benign	Het
Slc9b1	T	C	3: 135,097,948 (GRCm39)	S393P	probably damaging	Het
Slfn3	T	A	11: 83,105,332 (GRCm39)	I320K	possibly damaging	Het
Spata31f1a	T	A	4: 42,848,542 (GRCm39)	M1205L	probably benign	Het
Tgfbr1	A	T	4: 47,406,924 (GRCm39)	I420F	probably benign	Het
Tnik	A	T	3: 28,658,482 (GRCm39)	D589V	possibly damaging	Het
Trappc8	A	C	18: 21,006,938 (GRCm39)		probably null	Het
Ttbk1	A	G	17: 46,791,087 (GRCm39)	S66P	possibly damaging	Het
Unc13c	A	G	9: 73,392,220 (GRCm39)	V2044A	probably benign	Het
Usp53	T	C	3: 122,741,045 (GRCm39)	E735G	probably benign	Het
Vmn2r-ps158	T	A	7: 42,673,462 (GRCm39)	N180K	probably benign	Het
Zfyve26	A	T	12: 79,302,037 (GRCm39)	V1853D	probably damaging	Het
Zkscan17	A	G	11: 59,394,574 (GRCm39)	V9A	probably damaging	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
R6940:Ranbp3l	UTSW	15	9,041,792 (GRCm39)	missense	probably benign	0.03
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
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'- CACTTGCTAAAGGGTGGGAG -3'
(R):5'- CTGAAGGCCATTTCTTAAATTCTGTCC -3'

Sequencing Primer
(F):5'- AAGGGTGGGAGTAAAAATTATTAGC -3'
(R):5'- AGTTAGGATGGTCTTGCCT -3'

Posted On

2020-07-13