Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00590:Rnft1'

4525

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnft1

Ensembl Gene

ENSMUSG00000020521

Gene Name

ring finger protein, transmembrane 1

Synonyms

0610013E23Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

IGL00590

Quality Score

Status

Chromosome

Chromosomal Location

86375483-86389833 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86386740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 383 (W383R)

Ref Sequence

ENSEMBL: ENSMUSP00000020827 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020827] [ENSMUST00000154617]

AlphaFold

Q9DCN7

Predicted Effect

probably damaging
Transcript: ENSMUST00000020827
AA Change: W383R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020827
Gene: ENSMUSG00000020521
AA Change: W383R

Domain	Start	End	E-Value	Type
low complexity region	92	104	N/A	INTRINSIC
transmembrane domain	125	147	N/A	INTRINSIC
transmembrane domain	168	190	N/A	INTRINSIC
transmembrane domain	210	232	N/A	INTRINSIC
transmembrane domain	244	266	N/A	INTRINSIC
transmembrane domain	281	303	N/A	INTRINSIC
RING	335	372	1.67e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154617

SMART Domains

Protein: ENSMUSP00000119715
Gene: ENSMUSG00000020516

Domain	Start	End	E-Value	Type
S_TKc	91	352	8.24e-107	SMART
S_TK_X	353	415	9.2e-27	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(5) : Targeted, other(1) Gene trapped(4)

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	G	7: 120,023,038 (GRCm39)	F58C	probably damaging	Het
Adgrf5	G	T	17: 43,764,038 (GRCm39)	G1320V	probably damaging	Het
Akap13	A	G	7: 75,260,417 (GRCm39)	K211E	probably benign	Het
Akap8l	T	C	17: 32,552,071 (GRCm39)	D402G	possibly damaging	Het
Akna	T	C	4: 63,290,115 (GRCm39)	I1198V	probably benign	Het
Apaf1	T	A	10: 90,859,650 (GRCm39)	I832F	probably damaging	Het
Cbl	A	C	9: 44,112,495 (GRCm39)	L67V	probably damaging	Het
Chl1	T	C	6: 103,670,022 (GRCm39)	Y471H	probably benign	Het
Cystm1	T	A	18: 36,499,728 (GRCm39)	Y48N	unknown	Het
Dennd5b	T	C	6: 148,969,806 (GRCm39)	T216A	probably benign	Het
Dpep2	A	T	8: 106,715,453 (GRCm39)	M356K	probably damaging	Het
Dtymk	A	G	1: 93,722,446 (GRCm39)		probably null	Het
Fam91a1	A	G	15: 58,287,565 (GRCm39)	D4G	possibly damaging	Het
Fbxl20	A	G	11: 97,983,955 (GRCm39)	L306P	probably damaging	Het
Fchsd1	C	T	18: 38,098,946 (GRCm39)		probably benign	Het
Fndc1	G	A	17: 7,983,933 (GRCm39)	T1331I	unknown	Het
Gpatch8	T	C	11: 102,371,375 (GRCm39)	D721G	unknown	Het
Gsg1	A	T	6: 135,221,348 (GRCm39)	I17N	possibly damaging	Het
Heyl	A	G	4: 123,140,423 (GRCm39)	*327W	probably null	Het
Kif13b	G	T	14: 65,016,911 (GRCm39)	R1359L	probably damaging	Het
Map3k14	C	T	11: 103,128,380 (GRCm39)	G414S	probably damaging	Het
Meis2	C	T	2: 115,699,274 (GRCm39)	A330T	probably damaging	Het
Mrpl9	T	C	3: 94,351,003 (GRCm39)	L61P	probably damaging	Het
Mrps6	A	G	16: 91,896,548 (GRCm39)	N38D	probably benign	Het
Muc4	C	T	16: 32,575,465 (GRCm39)	T1407I	probably benign	Het
Nup107	A	G	10: 117,599,708 (GRCm39)	Y604H	probably damaging	Het
Pgm2l1	T	C	7: 99,904,826 (GRCm39)		probably null	Het
Pisd	T	C	5: 32,895,756 (GRCm39)	I441V	probably benign	Het
Rb1cc1	T	C	1: 6,308,520 (GRCm39)	F52S	probably damaging	Het
Tas2r104	A	T	6: 131,662,530 (GRCm39)	W60R	probably damaging	Het
Tlr11	A	G	14: 50,598,373 (GRCm39)	T120A	probably benign	Het
Tmem150b	T	G	7: 4,726,896 (GRCm39)	I71L	probably benign	Het
Zfp296	A	G	7: 19,311,760 (GRCm39)	D89G	possibly damaging	Het

Other mutations in Rnft1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
1mM(1):Rnft1	UTSW	11	86,377,302 (GRCm39)	missense	probably benign	0.34
R1721:Rnft1	UTSW	11	86,377,096 (GRCm39)	missense	probably benign	0.26
R5560:Rnft1	UTSW	11	86,384,022 (GRCm39)	missense	probably benign	0.04
R5640:Rnft1	UTSW	11	86,377,319 (GRCm39)	nonsense	probably null
R5683:Rnft1	UTSW	11	86,382,616 (GRCm39)	missense	probably benign	0.00
R5771:Rnft1	UTSW	11	86,384,032 (GRCm39)	nonsense	probably null
R6471:Rnft1	UTSW	11	86,382,508 (GRCm39)	missense	possibly damaging	0.79
R6919:Rnft1	UTSW	11	86,386,156 (GRCm39)	critical splice donor site	probably null
R7140:Rnft1	UTSW	11	86,382,586 (GRCm39)	missense	probably benign
R7593:Rnft1	UTSW	11	86,384,023 (GRCm39)	nonsense	probably null
R8497:Rnft1	UTSW	11	86,386,132 (GRCm39)	nonsense	probably null
R8879:Rnft1	UTSW	11	86,377,516 (GRCm39)	missense	possibly damaging	0.58
R9173:Rnft1	UTSW	11	86,377,001 (GRCm39)	missense	probably benign	0.00
R9468:Rnft1	UTSW	11	86,381,242 (GRCm39)	missense	probably benign	0.27
R9513:Rnft1	UTSW	11	86,377,065 (GRCm39)	missense	possibly damaging	0.80
X0023:Rnft1	UTSW	11	86,382,518 (GRCm39)	missense	probably damaging	0.98
Z1177:Rnft1	UTSW	11	86,377,116 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20