Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00913:Rnft2'

27402

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnft2

Ensembl Gene

ENSMUSG00000032850

Gene Name

ring finger protein, transmembrane 2

Synonyms

Tmem118, B830028P19Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00913

Quality Score

Status

Chromosome

Chromosomal Location

118328801-118383181 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 118339280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 380 (T380M)

Ref Sequence

ENSEMBL: ENSMUSP00000112903 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117177] [ENSMUST00000121369]

AlphaFold

Q3UF64

Predicted Effect

probably damaging
Transcript: ENSMUST00000117177
AA Change: T380M

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112903
Gene: ENSMUSG00000032850
AA Change: T380M

Domain	Start	End	E-Value	Type
low complexity region	110	126	N/A	INTRINSIC
transmembrane domain	185	204	N/A	INTRINSIC
transmembrane domain	216	238	N/A	INTRINSIC
transmembrane domain	262	284	N/A	INTRINSIC
RING	386	423	3.58e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000121369
AA Change: T379M

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113749
Gene: ENSMUSG00000032850
AA Change: T379M

Domain	Start	End	E-Value	Type
low complexity region	109	125	N/A	INTRINSIC
transmembrane domain	184	203	N/A	INTRINSIC
transmembrane domain	215	237	N/A	INTRINSIC
transmembrane domain	261	283	N/A	INTRINSIC
RING	385	422	3.58e-6	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000132831
AA Change: T6M

SMART Domains

Protein: ENSMUSP00000120464
Gene: ENSMUSG00000032850
AA Change: T6M

Domain	Start	End	E-Value	Type
low complexity region	43	54	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134281

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf4	A	G	17: 42,977,793 (GRCm39)	S517P	possibly damaging	Het
Arl4c	T	C	1: 88,629,106 (GRCm39)	D94G	probably damaging	Het
Bag5	T	C	12: 111,677,766 (GRCm39)	E19G	probably damaging	Het
Carf	T	A	1: 60,187,114 (GRCm39)	D537E	probably benign	Het
Cd177	C	A	7: 24,455,620 (GRCm39)	D301Y	probably damaging	Het
Csmd1	C	T	8: 16,121,301 (GRCm39)	V1799I	probably benign	Het
Cyp4x1	T	A	4: 114,970,060 (GRCm39)	I356F	probably benign	Het
F5	A	T	1: 164,032,465 (GRCm39)	H1804L	probably damaging	Het
Fras1	G	T	5: 96,842,935 (GRCm39)	G1718C	probably damaging	Het
Ganc	T	C	2: 120,269,933 (GRCm39)		probably benign	Het
Hs3st5	A	G	10: 36,708,846 (GRCm39)	D127G	probably damaging	Het
Inpp5a	A	G	7: 139,096,637 (GRCm39)	D154G	probably benign	Het
Kif16b	T	A	2: 142,545,927 (GRCm39)	R1134*	probably null	Het
Lrrc66	C	T	5: 73,765,499 (GRCm39)	A515T	possibly damaging	Het
Map3k10	C	T	7: 27,362,640 (GRCm39)		probably benign	Het
Mideas	T	A	12: 84,219,632 (GRCm39)	I441L	probably benign	Het
Mrpl12	G	A	11: 120,376,202 (GRCm39)	D71N	possibly damaging	Het
Nfix	A	T	8: 85,453,106 (GRCm39)	V316E	probably damaging	Het
Nop2	A	G	6: 125,116,784 (GRCm39)	Y346C	probably damaging	Het
Nrbp1	A	G	5: 31,408,403 (GRCm39)	E513G	possibly damaging	Het
Ogfrl1	T	C	1: 23,409,171 (GRCm39)	I352V	probably benign	Het
Or7a35	A	G	10: 78,854,085 (GRCm39)	T310A	probably benign	Het
Or8b48	T	A	9: 38,492,672 (GRCm39)	V33E	probably damaging	Het
Oxr1	G	A	15: 41,683,539 (GRCm39)	V15I	possibly damaging	Het
Pik3r6	T	G	11: 68,442,147 (GRCm39)	F697C	probably damaging	Het
Ptk2	A	G	15: 73,167,238 (GRCm39)		probably benign	Het
Scel	A	G	14: 103,819,245 (GRCm39)	N346S	probably benign	Het
Sema4a	T	A	3: 88,357,117 (GRCm39)	T153S	probably damaging	Het
Serinc2	A	T	4: 130,158,201 (GRCm39)	L82Q	possibly damaging	Het
Sin3a	A	G	9: 57,005,402 (GRCm39)	T392A	probably benign	Het
Slc25a38	T	A	9: 119,949,373 (GRCm39)	Y108*	probably null	Het
Tmc8	G	A	11: 117,677,330 (GRCm39)	G317R	probably damaging	Het
Trpc3	A	G	3: 36,694,788 (GRCm39)	V722A	possibly damaging	Het
Unc93a2	A	T	17: 7,637,138 (GRCm39)	V130D	probably damaging	Het

Other mutations in Rnft2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02063:Rnft2	APN	5	118,380,587 (GRCm39)	splice site	probably benign
R0201:Rnft2	UTSW	5	118,332,745 (GRCm39)	splice site	probably benign
R0349:Rnft2	UTSW	5	118,339,450 (GRCm39)	missense	possibly damaging	0.92
R1167:Rnft2	UTSW	5	118,366,947 (GRCm39)	missense	possibly damaging	0.94
R1865:Rnft2	UTSW	5	118,370,540 (GRCm39)	missense	probably damaging	1.00
R2518:Rnft2	UTSW	5	118,332,670 (GRCm39)	intron	probably benign
R2876:Rnft2	UTSW	5	118,331,686 (GRCm39)	missense	probably damaging	0.99
R4622:Rnft2	UTSW	5	118,370,471 (GRCm39)	missense	probably damaging	1.00
R4623:Rnft2	UTSW	5	118,370,471 (GRCm39)	missense	probably damaging	1.00
R4705:Rnft2	UTSW	5	118,366,928 (GRCm39)	missense	probably damaging	1.00
R4796:Rnft2	UTSW	5	118,339,311 (GRCm39)	missense	probably damaging	1.00
R4898:Rnft2	UTSW	5	118,375,507 (GRCm39)	missense	probably benign	0.02
R5407:Rnft2	UTSW	5	118,380,567 (GRCm39)	missense	probably damaging	1.00
R5860:Rnft2	UTSW	5	118,366,868 (GRCm39)	missense	possibly damaging	0.92
R6875:Rnft2	UTSW	5	118,366,883 (GRCm39)	missense	possibly damaging	0.93
R6971:Rnft2	UTSW	5	118,332,635 (GRCm39)	intron	probably benign
R8266:Rnft2	UTSW	5	118,375,623 (GRCm39)	missense	possibly damaging	0.79
R8690:Rnft2	UTSW	5	118,366,935 (GRCm39)	missense	probably benign	0.01
R9371:Rnft2	UTSW	5	118,340,982 (GRCm39)	missense	probably damaging	1.00
R9574:Rnft2	UTSW	5	118,375,330 (GRCm39)	missense	probably benign

Posted On

2013-04-17