Mutagenetix > Incidental Mutation

Incidental Mutation 'R8023:Ranbp6'

617549

Institutional Source

Beutler Lab

Gene Symbol

Ranbp6

Ensembl Gene

ENSMUSG00000074909

Gene Name

RAN binding protein 6

Synonyms

MMRRC Submission

067462-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.295) question?

Stock #

R8023 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29785800-29790374 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29789222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 377 (S377G)

Ref Sequence

ENSEMBL: ENSMUSP00000100503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099525]

AlphaFold

Q8BIV3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099525
AA Change: S377G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000100503
Gene: ENSMUSG00000074909
AA Change: S377G

Domain	Start	End	E-Value	Type
low complexity region	70	78	N/A	INTRINSIC
Pfam:HEAT_2	367	475	2.4e-12	PFAM
Pfam:HEAT_EZ	380	434	1.1e-9	PFAM
Pfam:HEAT	409	438	8.3e-7	PFAM
Pfam:HEAT	916	944	1.1e-6	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg2	A	G	17: 57,152,448 (GRCm39)	Y665H	probably damaging	Het
Acte1	T	C	7: 143,445,528 (GRCm39)	S192P	probably damaging	Het
Agbl4	T	A	4: 111,474,345 (GRCm39)	V378E	probably benign	Het
Card9	T	C	2: 26,247,327 (GRCm39)	D274G	probably benign	Het
Ccnc	T	C	4: 21,747,578 (GRCm39)		probably null	Het
Col1a2	T	G	6: 4,533,847 (GRCm39)	S843A	unknown	Het
Cux1	T	A	5: 136,402,251 (GRCm39)	I111F	probably damaging	Het
Fam24b	A	C	7: 130,927,869 (GRCm39)	S107A	probably benign	Het
Fndc7	C	T	3: 108,774,461 (GRCm39)	C599Y	probably damaging	Het
Gm3604	G	A	13: 62,517,683 (GRCm39)	A225V	probably damaging	Het
Grhl3	A	G	4: 135,277,640 (GRCm39)	V475A	probably benign	Het
H2ac20	A	G	3: 96,128,106 (GRCm39)	S19P	unknown	Het
Heg1	T	A	16: 33,550,895 (GRCm39)	V958E	possibly damaging	Het
Hibch	T	C	1: 52,899,197 (GRCm39)	M30T	probably benign	Het
Hk2	T	A	6: 82,705,790 (GRCm39)	M838L	probably benign	Het
Hpd	A	G	5: 123,314,297 (GRCm39)	F206S	probably damaging	Het
Il34	C	T	8: 111,469,284 (GRCm39)	C177Y	probably damaging	Het
Il6ra	A	G	3: 89,820,260 (GRCm39)		probably null	Het
Itpr2	A	G	6: 146,088,988 (GRCm39)	I2240T	probably damaging	Het
Med24	A	G	11: 98,609,321 (GRCm39)		probably null	Het
Mpz	A	G	1: 170,987,602 (GRCm39)	D246G	probably damaging	Het
Ncam1	C	A	9: 49,421,057 (GRCm39)	A753S	probably benign	Het
Ndufs2	A	T	1: 171,064,263 (GRCm39)	M375K	probably damaging	Het
Obox2	A	G	7: 15,131,145 (GRCm39)	K84E	possibly damaging	Het
Or4c31	A	G	2: 88,292,022 (GRCm39)	I132V	probably benign	Het
Or51k1	A	G	7: 103,661,006 (GRCm39)	I301T	probably damaging	Het
Or7e178	C	T	9: 20,225,545 (GRCm39)	V224I	probably benign	Het
Pds5a	A	T	5: 65,795,241 (GRCm39)	L665Q	probably damaging	Het
Prr29	A	G	11: 106,267,099 (GRCm39)	E38G	probably benign	Het
Ptpn3	G	C	4: 57,248,688 (GRCm39)	D215E	probably benign	Het
Ptprq	G	A	10: 107,488,477 (GRCm39)	Q987*	probably null	Het
Rps6ka1	A	T	4: 133,594,506 (GRCm39)	L168Q	probably damaging	Het
Sall1	A	G	8: 89,759,171 (GRCm39)	I311T	probably damaging	Het
Satb2	T	C	1: 56,930,390 (GRCm39)	Y211C	probably damaging	Het
Sis	T	A	3: 72,859,813 (GRCm39)	Y314F	probably damaging	Het
Slc1a7	G	A	4: 107,869,473 (GRCm39)	V513M	probably benign	Het
Slc6a20a	T	C	9: 123,489,657 (GRCm39)	N129D	probably damaging	Het
Slu7	G	A	11: 43,336,975 (GRCm39)	R572Q	probably benign	Het
Tbx6	C	T	7: 126,382,031 (GRCm39)	A123V	possibly damaging	Het
Tcn2	A	T	11: 3,877,579 (GRCm39)	I23K	possibly damaging	Het
Tiparp	A	G	3: 65,439,224 (GRCm39)	D180G	probably benign	Het
Tln2	A	G	9: 67,131,346 (GRCm39)	L1400P	probably damaging	Het
Ttf2	T	C	3: 100,863,571 (GRCm39)	T588A	probably benign	Het
Ttn	A	G	2: 76,769,564 (GRCm39)	V2741A	unknown	Het
Txlna	A	T	4: 129,533,278 (GRCm39)	S83R	probably damaging	Het
Vmn2r16	C	T	5: 109,488,272 (GRCm39)	Q382*	probably null	Het
Vmn2r76	A	G	7: 85,879,028 (GRCm39)	V424A	probably benign	Het
Zfc3h1	T	A	10: 115,256,553 (GRCm39)	L1508I	probably damaging	Het
Zfp189	G	A	4: 49,530,312 (GRCm39)	G472R	probably damaging	Het
Zfp462	G	A	4: 55,073,106 (GRCm39)		probably null	Het

Other mutations in Ranbp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02020:Ranbp6	APN	19	29,787,176 (GRCm39)	missense	probably benign	0.00
IGL02665:Ranbp6	APN	19	29,790,301 (GRCm39)	missense	possibly damaging	0.64
IGL02943:Ranbp6	APN	19	29,789,524 (GRCm39)	missense	possibly damaging	0.91
IGL03018:Ranbp6	APN	19	29,788,789 (GRCm39)	missense	probably damaging	1.00
IGL03219:Ranbp6	APN	19	29,787,680 (GRCm39)	missense	probably damaging	1.00
R0137:Ranbp6	UTSW	19	29,787,097 (GRCm39)	missense	probably benign	0.16
R0412:Ranbp6	UTSW	19	29,789,483 (GRCm39)	missense	possibly damaging	0.91
R1171:Ranbp6	UTSW	19	29,789,679 (GRCm39)	missense	probably benign	0.37
R1521:Ranbp6	UTSW	19	29,788,846 (GRCm39)	missense	probably benign
R1967:Ranbp6	UTSW	19	29,789,900 (GRCm39)	nonsense	probably null
R2257:Ranbp6	UTSW	19	29,788,949 (GRCm39)	missense	possibly damaging	0.47
R4490:Ranbp6	UTSW	19	29,787,733 (GRCm39)	missense	probably damaging	1.00
R4624:Ranbp6	UTSW	19	29,788,263 (GRCm39)	nonsense	probably null
R4625:Ranbp6	UTSW	19	29,788,263 (GRCm39)	nonsense	probably null
R4626:Ranbp6	UTSW	19	29,788,263 (GRCm39)	nonsense	probably null
R4649:Ranbp6	UTSW	19	29,787,721 (GRCm39)	missense	probably benign	0.23
R4709:Ranbp6	UTSW	19	29,788,984 (GRCm39)	missense	probably benign	0.00
R4777:Ranbp6	UTSW	19	29,789,037 (GRCm39)	missense	probably damaging	1.00
R4895:Ranbp6	UTSW	19	29,787,175 (GRCm39)	missense	possibly damaging	0.93
R5362:Ranbp6	UTSW	19	29,789,128 (GRCm39)	missense	probably benign	0.30
R5379:Ranbp6	UTSW	19	29,789,083 (GRCm39)	missense	probably damaging	1.00
R5617:Ranbp6	UTSW	19	29,789,863 (GRCm39)	missense	probably damaging	1.00
R6264:Ranbp6	UTSW	19	29,790,026 (GRCm39)	missense	probably benign	0.00
R7091:Ranbp6	UTSW	19	29,790,116 (GRCm39)	missense	probably damaging	1.00
R7234:Ranbp6	UTSW	19	29,789,462 (GRCm39)	missense	possibly damaging	0.67
R7664:Ranbp6	UTSW	19	29,789,476 (GRCm39)	missense	possibly damaging	0.90
R7904:Ranbp6	UTSW	19	29,789,813 (GRCm39)	missense	probably benign
R7915:Ranbp6	UTSW	19	29,790,073 (GRCm39)	missense	probably benign
R8366:Ranbp6	UTSW	19	29,789,299 (GRCm39)	missense	probably damaging	1.00
R9037:Ranbp6	UTSW	19	29,790,317 (GRCm39)	missense	probably benign
R9269:Ranbp6	UTSW	19	29,787,388 (GRCm39)	missense	probably damaging	0.99
R9461:Ranbp6	UTSW	19	29,787,163 (GRCm39)	missense	possibly damaging	0.64
X0024:Ranbp6	UTSW	19	29,789,840 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCTGTAGCCATCTGTCCAAG -3'
(R):5'- GCATACGAATATTATTGCACAGGC -3'

Sequencing Primer
(F):5'- CCATCTGTCCAAGTGTAGTACAGG -3'
(R):5'- GGCTGTGCCTCATATATTAGCAATG -3'

Posted On

2020-01-23