Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02412:Rftn2'

294374

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rftn2

Ensembl Gene

ENSMUSG00000025978

Gene Name

raftlin family member 2

Synonyms

3222401M22Rik, 2700010E02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02412

Quality Score

Status

Chromosome

Chromosomal Location

55209318-55265941 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55245497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 238 (E238G)

Ref Sequence

ENSEMBL: ENSMUSP00000110071 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027121] [ENSMUST00000114428] [ENSMUST00000132055]

AlphaFold

Q8CHX7

Predicted Effect

probably benign
Transcript: ENSMUST00000027121
AA Change: E238G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000027121
Gene: ENSMUSG00000025978
AA Change: E238G

Domain	Start	End	E-Value	Type
Pfam:Raftlin	1	439	2e-180	PFAM
low complexity region	467	478	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114428
AA Change: E238G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000110071
Gene: ENSMUSG00000025978
AA Change: E238G

Domain	Start	End	E-Value	Type
Pfam:Raftlin	1	319	8.4e-120	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132055

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133294

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(12) : Targeted, other(2) Gene trapped(10)

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	T	A	6: 85,605,854 (GRCm39)	F2032L	possibly damaging	Het
Caps2	T	C	10: 112,039,941 (GRCm39)		probably null	Het
Ccdc88b	A	T	19: 6,824,012 (GRCm39)	F1414I	probably damaging	Het
Cr1l	T	G	1: 194,797,080 (GRCm39)	Y319S	probably damaging	Het
Cr1l	C	T	1: 194,797,074 (GRCm39)	G283E	probably damaging	Het
Csmd2	G	A	4: 128,407,165 (GRCm39)		probably benign	Het
Dhx37	T	A	5: 125,508,692 (GRCm39)	K81M	probably damaging	Het
Dzip3	T	A	16: 48,778,820 (GRCm39)	M326L	probably benign	Het
Exosc10	A	G	4: 148,652,849 (GRCm39)	D488G	probably benign	Het
Gm2058	G	A	7: 39,238,457 (GRCm39)		noncoding transcript	Het
Gm43638	T	A	5: 87,633,995 (GRCm39)	Q204L	possibly damaging	Het
Gm4847	T	C	1: 166,469,307 (GRCm39)	D119G	probably damaging	Het
Gnb3	A	C	6: 124,814,425 (GRCm39)	M120R	probably benign	Het
Il16	A	C	7: 83,301,899 (GRCm39)	D74E	probably benign	Het
Kpna1	T	C	16: 35,851,561 (GRCm39)	F382L	probably benign	Het
Krt33a	G	T	11: 99,902,805 (GRCm39)	Q340K	probably benign	Het
Lrrc17	T	A	5: 21,765,877 (GRCm39)	S120T	possibly damaging	Het
Mapk3	C	A	7: 126,362,210 (GRCm39)	Y56*	probably null	Het
Mfhas1	C	T	8: 36,055,969 (GRCm39)	A148V	probably benign	Het
Npr2	A	G	4: 43,647,005 (GRCm39)	I713V	probably damaging	Het
Obp1a	T	A	X: 77,131,980 (GRCm39)	Y108F	probably damaging	Het
Or51f1d	A	T	7: 102,701,359 (GRCm39)	M285L	probably benign	Het
Or5ac21	T	A	16: 59,123,555 (GRCm39)	L13H	probably damaging	Het
Or6n1	T	C	1: 173,916,809 (GRCm39)	F68L	probably benign	Het
Or7e178	T	A	9: 20,225,935 (GRCm39)	S86C	probably benign	Het
Pias1	A	T	9: 62,800,421 (GRCm39)	N430K	probably benign	Het
Ralgapa2	G	T	2: 146,254,052 (GRCm39)	A836D	probably damaging	Het
Samt4	T	G	X: 153,267,118 (GRCm39)	S86A	probably damaging	Het
Setd2	T	C	9: 110,379,842 (GRCm39)	M1219T	probably benign	Het
Sh3pxd2b	T	A	11: 32,337,992 (GRCm39)	D99E	probably damaging	Het
Sh3rf1	A	T	8: 61,825,723 (GRCm39)	T573S	probably benign	Het
Sugct	A	G	13: 17,837,386 (GRCm39)	W82R	probably damaging	Het
Syt4	T	G	18: 31,576,896 (GRCm39)	K153Q	probably benign	Het
Tbrg1	T	C	9: 37,563,908 (GRCm39)		probably null	Het
Tex36	C	T	7: 133,189,137 (GRCm39)	R145K	probably benign	Het
Tfap2b	A	T	1: 19,289,427 (GRCm39)	D166V	probably damaging	Het
Trhde	T	C	10: 114,322,830 (GRCm39)	Y694C	probably damaging	Het
Trpc1	G	A	9: 95,618,914 (GRCm39)	L146F	probably damaging	Het
Ttc29	G	A	8: 79,003,569 (GRCm39)	E262K	possibly damaging	Het
Ttn	A	T	2: 76,547,293 (GRCm39)	I32251N	probably damaging	Het
Ttn	G	T	2: 76,612,691 (GRCm39)	D17129E	probably benign	Het
Ucma	T	A	2: 4,981,636 (GRCm39)	I47N	probably damaging	Het
Vmn1r13	A	T	6: 57,187,474 (GRCm39)	K211M	possibly damaging	Het
Vmn2r95	A	C	17: 18,660,218 (GRCm39)	H210P	probably damaging	Het
Xpc	T	C	6: 91,476,767 (GRCm39)	E444G	probably benign	Het
Yy1	T	C	12: 108,760,023 (GRCm39)		probably benign	Het
Zfp217	A	G	2: 169,954,422 (GRCm39)		probably benign	Het
Zfp318	T	A	17: 46,720,043 (GRCm39)	Y1080*	probably null	Het

Other mutations in Rftn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Rftn2	APN	1	55,243,444 (GRCm39)	missense	probably damaging	1.00
IGL01691:Rftn2	APN	1	55,253,445 (GRCm39)	missense	probably damaging	1.00
IGL02458:Rftn2	APN	1	55,250,351 (GRCm39)	nonsense	probably null
1mM(1):Rftn2	UTSW	1	55,245,754 (GRCm39)	missense	possibly damaging	0.94
R0446:Rftn2	UTSW	1	55,253,354 (GRCm39)	missense	probably damaging	0.99
R1167:Rftn2	UTSW	1	55,243,458 (GRCm39)	missense	probably damaging	1.00
R1172:Rftn2	UTSW	1	55,250,376 (GRCm39)	missense	probably damaging	0.99
R4171:Rftn2	UTSW	1	55,253,429 (GRCm39)	missense	probably damaging	1.00
R4350:Rftn2	UTSW	1	55,233,440 (GRCm39)	missense	probably damaging	1.00
R4487:Rftn2	UTSW	1	55,241,311 (GRCm39)	missense	possibly damaging	0.74
R4833:Rftn2	UTSW	1	55,253,399 (GRCm39)	missense	possibly damaging	0.56
R4863:Rftn2	UTSW	1	55,211,198 (GRCm39)	missense	probably benign	0.01
R5719:Rftn2	UTSW	1	55,253,445 (GRCm39)	missense	probably damaging	1.00
R6801:Rftn2	UTSW	1	55,233,418 (GRCm39)	missense	possibly damaging	0.91
R6937:Rftn2	UTSW	1	55,233,508 (GRCm39)	critical splice acceptor site	probably null
R6939:Rftn2	UTSW	1	55,233,508 (GRCm39)	critical splice acceptor site	probably null
R7344:Rftn2	UTSW	1	55,265,311 (GRCm39)	nonsense	probably null
R7401:Rftn2	UTSW	1	55,233,401 (GRCm39)	critical splice donor site	probably null
R7517:Rftn2	UTSW	1	55,234,708 (GRCm39)	missense	probably damaging	1.00
R8512:Rftn2	UTSW	1	55,253,324 (GRCm39)	missense	probably damaging	1.00
R9207:Rftn2	UTSW	1	55,224,149 (GRCm39)	missense	probably damaging	1.00
R9501:Rftn2	UTSW	1	55,241,355 (GRCm39)	missense	possibly damaging	0.66
X0022:Rftn2	UTSW	1	55,253,295 (GRCm39)	missense	probably benign	0.05

Posted On

2015-04-16