Mutagenetix > Incidental Mutation

Incidental Mutation 'R0446:Rftn2'

39350

Institutional Source

Beutler Lab

Gene Symbol

Rftn2

Ensembl Gene

ENSMUSG00000025978

Gene Name

raftlin family member 2

Synonyms

3222401M22Rik, 2700010E02Rik

MMRRC Submission

038647-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0446 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55209318-55265941 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55253354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 83 (I83K)

Ref Sequence

ENSEMBL: ENSMUSP00000110071 (fasta)

Gene Model

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

AlphaFold

Q8CHX7

Predicted Effect

probably damaging
Transcript: ENSMUST00000027121
AA Change: I83K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027121
Gene: ENSMUSG00000025978
AA Change: I83K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000114428
AA Change: I83K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110071
Gene: ENSMUSG00000025978
AA Change: I83K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000132055

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 89,971,766 (GRCm39)	T42A	probably benign	Het
Actr3b	T	A	5: 26,036,730 (GRCm39)	I181K	probably damaging	Het
Avl9	G	T	6: 56,713,468 (GRCm39)	R242L	probably benign	Het
B3galt4	T	C	17: 34,169,992 (GRCm39)	E82G	probably benign	Het
Bag1	G	A	4: 40,936,609 (GRCm39)	T349I	probably benign	Het
Brip1	A	T	11: 86,048,427 (GRCm39)	L305Q	probably damaging	Het
Cdipt	A	G	7: 126,577,436 (GRCm39)	T61A	probably damaging	Het
Cmya5	T	A	13: 93,230,164 (GRCm39)	R1641S	probably benign	Het
Cog7	T	C	7: 121,536,295 (GRCm39)	D515G	probably benign	Het
Cpsf4	T	A	5: 145,114,054 (GRCm39)	L171Q	probably damaging	Het
Cstpp1	G	A	2: 91,135,109 (GRCm39)	T20I	possibly damaging	Het
Cuzd1	A	T	7: 130,918,009 (GRCm39)		probably null	Het
Dapk1	T	A	13: 60,873,101 (GRCm39)		probably null	Het
Diaph1	A	G	18: 37,986,643 (GRCm39)	V1114A	possibly damaging	Het
Emx2	A	T	19: 59,452,348 (GRCm39)	K211*	probably null	Het
Fam170a	T	A	18: 50,413,699 (GRCm39)	C55S	possibly damaging	Het
Fbxw26	A	G	9: 109,572,788 (GRCm39)	S119P	probably benign	Het
Fhip2a	G	A	19: 57,369,839 (GRCm39)	D461N	probably benign	Het
Fryl	G	A	5: 73,254,760 (GRCm39)	T894M	possibly damaging	Het
Gad1-ps	C	A	10: 99,281,383 (GRCm39)		noncoding transcript	Het
Gss	T	C	2: 155,409,665 (GRCm39)	E257G	probably benign	Het
Klhdc1	A	C	12: 69,330,082 (GRCm39)	S404R	probably benign	Het
Kmt2e	T	A	5: 23,702,532 (GRCm39)		probably null	Het
Krt20	G	A	11: 99,328,602 (GRCm39)	Q108*	probably null	Het
Lmnb1	T	A	18: 56,876,331 (GRCm39)	S480T	probably benign	Het
Lyst	T	A	13: 13,812,633 (GRCm39)	M1015K	probably benign	Het
Mdm1	T	G	10: 117,987,961 (GRCm39)	S290A	probably benign	Het
Mkln1	T	A	6: 31,426,439 (GRCm39)	F238I	probably damaging	Het
Mrgprb3	A	G	7: 48,292,984 (GRCm39)	V189A	probably benign	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Neurod6	C	T	6: 55,656,614 (GRCm39)	E8K	probably benign	Het
Nlrp12	T	C	7: 3,282,659 (GRCm39)	I747V	probably benign	Het
Notch4	C	T	17: 34,784,337 (GRCm39)	R43W	possibly damaging	Het
Obscn	A	T	11: 58,886,238 (GRCm39)		probably benign	Het
Or10d3	A	T	9: 39,461,747 (GRCm39)	I140N	probably damaging	Het
Or5p57	A	T	7: 107,665,932 (GRCm39)	Y24*	probably null	Het
Or5w20	T	C	2: 87,727,199 (GRCm39)	Y219H	possibly damaging	Het
Or6ae1	A	T	7: 139,742,384 (GRCm39)	S160T	probably damaging	Het
Or6z5	T	C	7: 6,478,024 (GRCm39)	V305A	probably benign	Het
Or8b53	G	T	9: 38,667,114 (GRCm39)	L43F	probably damaging	Het
Orc5	C	T	5: 22,751,455 (GRCm39)	V85I	probably benign	Het
Pccb	T	C	9: 100,864,850 (GRCm39)	D468G	probably damaging	Het
Pdzd2	A	T	15: 12,375,110 (GRCm39)	V1675E	probably benign	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Pltp	A	T	2: 164,696,320 (GRCm39)	N97K	probably damaging	Het
Polr1a	T	C	6: 71,927,648 (GRCm39)		probably null	Het
Prss42	G	A	9: 110,628,341 (GRCm39)	V162I	possibly damaging	Het
Rbfox2	A	T	15: 76,983,455 (GRCm39)	Y269N	probably damaging	Het
S1pr4	A	T	10: 81,334,823 (GRCm39)	I217N	probably damaging	Het
Slc23a2	T	C	2: 131,920,353 (GRCm39)	K184R	probably benign	Het
Slc6a19	T	C	13: 73,839,814 (GRCm39)	N156S	probably benign	Het
Svep1	C	T	4: 58,088,280 (GRCm39)	G1723D	probably damaging	Het
Tbc1d32	T	A	10: 56,068,994 (GRCm39)	H358L	possibly damaging	Het
Tex55	G	A	16: 38,649,064 (GRCm39)	T15I	probably benign	Het
Tigit	G	T	16: 43,482,634 (GRCm39)	N33K	probably damaging	Het
Tmem25	T	C	9: 44,707,878 (GRCm39)	Y139C	probably damaging	Het
Trmt13	G	A	3: 116,376,275 (GRCm39)	T372M	probably damaging	Het
Ubr2	A	T	17: 47,294,224 (GRCm39)	M303K	probably damaging	Het
Usp34	A	G	11: 23,417,207 (GRCm39)	E2952G	probably damaging	Het
Zan	T	A	5: 137,389,920 (GRCm39)	I4851F	unknown	Het
Zfand4	C	T	6: 116,265,015 (GRCm39)	T160I	probably benign	Het
Zfp1005	A	G	2: 150,109,993 (GRCm39)	T228A	possibly damaging	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
IGL02412:Rftn2	APN	1	55,245,497 (GRCm39)	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- TCGATCACACCCTCCCTTGGTATTTA -3'
(R):5'- GTATCCATCAGTTGGGTCAATCACCTTT -3'

Sequencing Primer
(F):5'- ctctctctctctctctctctctc -3'
(R):5'- ctaccctgaacacatttaatctcac -3'

Posted On

2013-05-23