Mutagenetix > Incidental Mutation

Incidental Mutation 'R6937:Rftn2'

540325

Institutional Source

Beutler Lab

Gene Symbol

Rftn2

Ensembl Gene

ENSMUSG00000025978

Gene Name

raftlin family member 2

Synonyms

3222401M22Rik, 2700010E02Rik

MMRRC Submission

045051-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6937 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55209318-55265941 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 55233508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027121 (fasta)

Gene Model

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

AlphaFold

Q8CHX7

Predicted Effect

probably null
Transcript: ENSMUST00000027121

SMART Domains

Protein: ENSMUSP00000027121
Gene: ENSMUSG00000025978

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

Predicted Effect

probably null
Transcript: ENSMUST00000027121

SMART Domains

Protein: ENSMUSP00000027121
Gene: ENSMUSG00000025978

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: ENSMUST00000132055

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.1%

Validation Efficiency

98% (42/43)

Allele List at MGI

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

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd52	T	C	10: 128,222,889 (GRCm39)	V613A	probably benign	Het
Cdh23	A	T	10: 60,322,893 (GRCm39)	L337Q	probably damaging	Het
Chrna6	A	G	8: 27,897,055 (GRCm39)	L274P	probably damaging	Het
Ciita	G	A	16: 10,330,355 (GRCm39)		probably null	Het
Csnka2ip	A	T	16: 64,299,058 (GRCm39)		probably benign	Het
Ddx60	G	A	8: 62,490,103 (GRCm39)	D1691N	probably damaging	Het
Dnah7b	T	C	1: 46,234,280 (GRCm39)	I1441T	probably damaging	Het
Dock4	T	C	12: 40,884,634 (GRCm39)	S1713P	probably benign	Het
Ep400	T	C	5: 110,859,018 (GRCm39)		probably benign	Het
Epn1	T	C	7: 5,092,943 (GRCm39)	I85T	probably damaging	Het
Eri2	T	C	7: 119,386,012 (GRCm39)	K228E	probably damaging	Het
Garem1	C	T	18: 21,280,827 (GRCm39)	A510T	probably benign	Het
Gfm2	T	A	13: 97,299,572 (GRCm39)		probably null	Het
Hnrnpd	T	C	5: 100,111,629 (GRCm39)	T321A	probably benign	Het
Htr2a	A	T	14: 74,882,604 (GRCm39)	I197F	probably damaging	Het
Krtap2-4	T	A	11: 99,505,299 (GRCm39)		probably benign	Het
Lcn3	C	A	2: 25,657,823 (GRCm39)	Y179*	probably null	Het
Mak	A	T	13: 41,201,578 (GRCm39)	M261K	probably damaging	Het
Marchf7	A	G	2: 60,071,310 (GRCm39)	T605A	probably damaging	Het
Mcm4	A	C	16: 15,454,199 (GRCm39)	F83V	probably benign	Het
Myo18b	T	C	5: 112,950,258 (GRCm39)	N1546S	probably benign	Het
Nckap1	T	A	2: 80,339,060 (GRCm39)	K989N	probably damaging	Het
Ndufaf5	A	G	2: 140,023,522 (GRCm39)	D119G	probably damaging	Het
Or7g28	A	T	9: 19,271,985 (GRCm39)	V222D	probably damaging	Het
Pcdh1	T	C	18: 38,336,528 (GRCm39)	T36A	possibly damaging	Het
Pitpna	C	T	11: 75,494,557 (GRCm39)	T100I	possibly damaging	Het
Pmf1	A	T	3: 88,306,496 (GRCm39)	L102Q	probably damaging	Het
Robo3	A	G	9: 37,341,176 (GRCm39)	L10P	probably benign	Het
Serpinb6a	T	C	13: 34,102,801 (GRCm39)	I241V	possibly damaging	Het
St14	A	T	9: 31,040,956 (GRCm39)		probably null	Het
Stat6	T	C	10: 127,494,571 (GRCm39)		probably null	Het
Tdpoz6	T	C	3: 93,599,523 (GRCm39)	N282S	probably benign	Het
Tdpoz8	A	G	3: 92,981,417 (GRCm39)	H145R	probably benign	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Tgfbrap1	A	T	1: 43,091,064 (GRCm39)	V687E	probably damaging	Het
Trim30d	A	T	7: 104,132,634 (GRCm39)	S68T	probably damaging	Het
Ttn	A	G	2: 76,663,253 (GRCm39)		probably benign	Het
Ugt3a1	A	T	15: 9,292,158 (GRCm39)	D97V	probably benign	Het
Ugt8a	G	A	3: 125,709,250 (GRCm39)		probably benign	Het
Vmn1r184	A	T	7: 25,966,750 (GRCm39)	K165N	probably benign	Het
Vmn2r86	T	A	10: 130,284,523 (GRCm39)	I523F	probably damaging	Het
Wapl	G	A	14: 34,444,311 (GRCm39)	V588I	probably benign	Het
Wdr7	C	T	18: 63,924,938 (GRCm39)	P974S	probably benign	Het
Zfp975	T	C	7: 42,314,480 (GRCm39)	D31G	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
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
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'- TCGTAGGCTTAAGTCAGCATTGG -3'
(R):5'- AATGGCCACTGTCCACTCAC -3'

Sequencing Primer
(F):5'- AGTCAGCATTGGTTAATTTACTCAC -3'
(R):5'- GTCCACTCACTTGGTTTTAAGAAGGC -3'

Posted On

2018-11-06