Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02431:Rangrf'

293133

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rangrf

Ensembl Gene

ENSMUSG00000032892

Gene Name

RAN guanine nucleotide release factor

Synonyms

2400006H24Rik, Mog1, Rangnrf

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.284) question?

Stock #

IGL02431

Quality Score

Status

Chromosome

Chromosomal Location

68863310-68866011 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 68863565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 147 (C147F)

Ref Sequence

ENSEMBL: ENSMUSP00000038485 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018884] [ENSMUST00000038644] [ENSMUST00000102606]

AlphaFold

Q9JIB0

Predicted Effect

probably benign
Transcript: ENSMUST00000018884

SMART Domains

Protein: ENSMUSP00000018884
Gene: ENSMUSG00000018740

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	90	4.5e-20	PFAM
Pfam:Mito_carr	98	193	2.2e-16	PFAM
Pfam:Mito_carr	197	295	6.8e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000038644
AA Change: C147F

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

SMART Domains

Protein: ENSMUSP00000038485
Gene: ENSMUSG00000032892
AA Change: C147F

Domain	Start	End	E-Value	Type
Pfam:Mog1	7	145	1.3e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102606

SMART Domains

Protein: ENSMUSP00000099666
Gene: ENSMUSG00000018740

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	92	7.9e-17	PFAM
Pfam:Mito_carr	98	197	1.2e-16	PFAM
Pfam:Mito_carr	202	299	8.6e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132093

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133099

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138362

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144271

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143444

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150017

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156178

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that has been shown to function as a guanine nucleotide release factor in mouse and to regulate the expression and function of the Nav1.5 cardiac sodium channel in human. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	A	17: 24,517,958 (GRCm39)	I784L	probably benign	Het
Abcc1	T	A	16: 14,237,598 (GRCm39)	V473E	probably damaging	Het
Agap3	A	G	5: 24,706,010 (GRCm39)	E758G	probably damaging	Het
C6	A	T	15: 4,789,343 (GRCm39)	K263*	probably null	Het
Cep78	T	C	19: 15,936,943 (GRCm39)	T588A	probably benign	Het
Cfap20dc	T	C	14: 8,659,424 (GRCm38)	N57S	probably damaging	Het
Col4a3	C	T	1: 82,657,344 (GRCm39)	Q815*	probably null	Het
Dcaf10	A	G	4: 45,342,630 (GRCm39)	M155V	probably benign	Het
Fam228b	T	C	12: 4,812,370 (GRCm39)	Y136C	probably damaging	Het
Fryl	A	T	5: 73,255,651 (GRCm39)	H793Q	probably benign	Het
Gm10134	T	C	2: 28,396,429 (GRCm39)		probably benign	Het
Gm6505	T	C	3: 28,819,169 (GRCm39)		noncoding transcript	Het
Il31ra	A	G	13: 112,666,830 (GRCm39)	F416S	probably damaging	Het
Lipc	A	G	9: 70,841,750 (GRCm39)		probably benign	Het
Lrp4	A	G	2: 91,306,982 (GRCm39)	K368E	possibly damaging	Het
Lrriq1	A	T	10: 103,036,500 (GRCm39)	N884K	probably damaging	Het
Mrgprx1	T	C	7: 47,670,875 (GRCm39)	R291G	probably benign	Het
Myo15a	T	A	11: 60,401,465 (GRCm39)	V3057E	possibly damaging	Het
Or11g1	T	A	14: 50,651,226 (GRCm39)	I75N	probably damaging	Het
Or14j8	T	A	17: 38,263,413 (GRCm39)	R167S	probably benign	Het
Postn	A	T	3: 54,282,517 (GRCm39)	I493F	probably damaging	Het
Ptpn22	C	A	3: 103,810,713 (GRCm39)	F713L	probably benign	Het
Pygm	T	C	19: 6,438,148 (GRCm39)	V239A	probably damaging	Het
Rnf112	C	T	11: 61,341,205 (GRCm39)	R460H	probably benign	Het
Sh3d19	A	G	3: 86,014,305 (GRCm39)	E423G	probably damaging	Het
Tasor2	A	G	13: 3,624,736 (GRCm39)	V1738A	possibly damaging	Het
Tipin	A	G	9: 64,208,467 (GRCm39)	K204E	probably benign	Het
Traf3ip1	A	T	1: 91,427,357 (GRCm39)	Q109L	unknown	Het
Ttc21b	A	T	2: 66,082,229 (GRCm39)		probably benign	Het
Ttn	C	A	2: 76,804,460 (GRCm39)	A271S	probably benign	Het
Vegfb	C	A	19: 6,963,386 (GRCm39)		probably null	Het
Vmn1r15	T	A	6: 57,235,888 (GRCm39)	L252H	possibly damaging	Het
Wipi1	A	T	11: 109,494,617 (GRCm39)	V72D	probably damaging	Het
Zmym1	G	A	4: 126,941,557 (GRCm39)	Q944*	probably null	Het

Other mutations in Rangrf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0611:Rangrf	UTSW	11	68,863,518 (GRCm39)	missense	probably benign	0.13
R4450:Rangrf	UTSW	11	68,866,010 (GRCm39)	unclassified	probably benign
R4850:Rangrf	UTSW	11	68,864,466 (GRCm39)	critical splice donor site	probably null
R6341:Rangrf	UTSW	11	68,863,538 (GRCm39)	missense	probably benign	0.23
R6453:Rangrf	UTSW	11	68,864,378 (GRCm39)	missense	probably damaging	1.00
R6526:Rangrf	UTSW	11	68,864,514 (GRCm39)	missense	probably damaging	1.00
R7755:Rangrf	UTSW	11	68,864,540 (GRCm39)	missense	probably damaging	0.97

Posted On

2015-04-16