Mutagenetix > Incidental Mutation

Incidental Mutation 'R5719:Rftn2'

451325

Institutional Source

Beutler Lab

Gene Symbol

Rftn2

Ensembl Gene

ENSMUSG00000025978

Gene Name

raftlin family member 2

Synonyms

3222401M22Rik, 2700010E02Rik

MMRRC Submission

043339-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5719 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55209318-55265941 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 55253445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 53 (V53I)

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: V53I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027121
Gene: ENSMUSG00000025978
AA Change: V53I

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: V53I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000110071
Gene: ENSMUSG00000025978
AA Change: V53I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000132055

Meta Mutation Damage Score

0.0998

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (79/81)

Allele List at MGI

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

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130051J06Rik	C	T	15: 95,688,641 (GRCm39)		probably benign	Het
A630001G21Rik	T	A	1: 85,651,106 (GRCm39)	R110W	probably benign	Het
Abca4	T	C	3: 121,928,915 (GRCm39)		probably null	Het
Abcc3	T	C	11: 94,241,894 (GRCm39)	N1379S	probably damaging	Het
Actrt3	A	C	3: 30,652,276 (GRCm39)	F273V	probably benign	Het
Adam22	T	C	5: 8,417,217 (GRCm39)	D75G	probably benign	Het
Ash1l	C	A	3: 88,961,805 (GRCm39)	D2392E	possibly damaging	Het
Ash1l	T	C	3: 88,965,933 (GRCm39)	I2445T	probably damaging	Het
Bltp2	T	A	11: 78,164,071 (GRCm39)	H1137Q	probably damaging	Het
Cacna2d2	A	G	9: 107,401,851 (GRCm39)	I762V	probably benign	Het
Ccdc127	T	A	13: 74,505,187 (GRCm39)		probably benign	Het
Ccdc91	C	G	6: 147,477,001 (GRCm39)	L230V	unknown	Het
Cdk13	A	G	13: 17,894,240 (GRCm39)	I1129T	probably damaging	Het
Cnot1	C	T	8: 96,470,924 (GRCm39)	R1308H	possibly damaging	Het
Crhr2	T	C	6: 55,080,207 (GRCm39)	H144R	probably damaging	Het
Dnmt1	T	C	9: 20,823,891 (GRCm39)	N993S	possibly damaging	Het
Eif4g1	T	A	16: 20,507,761 (GRCm39)	V1182D	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fam234a	T	A	17: 26,433,627 (GRCm39)	Q399L	possibly damaging	Het
Fyb1	A	T	15: 6,610,350 (GRCm39)	K308*	probably null	Het
Gfral	C	T	9: 76,104,328 (GRCm39)	R228Q	probably benign	Het
Gm10309	A	T	17: 86,806,421 (GRCm39)		probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm5501	G	A	18: 9,917,417 (GRCm39)		noncoding transcript	Het
Gm6309	A	T	5: 146,104,992 (GRCm39)	V307D	probably benign	Het
Gm9871	T	A	6: 101,773,148 (GRCm39)		noncoding transcript	Het
Greb1l	G	A	18: 10,542,427 (GRCm39)	E1341K	probably damaging	Het
Herc3	T	A	6: 58,871,528 (GRCm39)	V70E	possibly damaging	Het
Hes7	A	G	11: 69,012,415 (GRCm39)	E41G	probably damaging	Het
Ifi27l2b	T	C	12: 103,422,046 (GRCm39)	D106G	unknown	Het
Igfbp6	A	T	15: 102,056,616 (GRCm39)	Y184F	probably damaging	Het
Isyna1	A	G	8: 71,047,352 (GRCm39)	Y25C	probably damaging	Het
Kcng3	G	T	17: 83,938,563 (GRCm39)	T162K	possibly damaging	Het
Krt36	T	C	11: 99,994,987 (GRCm39)	D195G	possibly damaging	Het
Lrwd1	A	T	5: 136,161,093 (GRCm39)		probably null	Het
Lsg1	C	T	16: 30,380,593 (GRCm39)	A615T	probably benign	Het
Myo5a	A	T	9: 75,059,213 (GRCm39)	E480D	probably damaging	Het
Myrf	T	A	19: 10,194,087 (GRCm39)	D690V	probably damaging	Het
N4bp1	T	C	8: 87,578,312 (GRCm39)	I684M	probably damaging	Het
Nlrc3	C	T	16: 3,781,589 (GRCm39)	A607T	probably damaging	Het
Nuak1	A	T	10: 84,245,584 (GRCm39)	I87N	probably damaging	Het
Odad2	G	T	18: 7,211,496 (GRCm39)	Q793K	probably benign	Het
Or5p66	T	G	7: 107,885,599 (GRCm39)	T245P	probably damaging	Het
Or5w11	T	C	2: 87,459,475 (GRCm39)		probably null	Het
Or8b4	A	T	9: 37,830,647 (GRCm39)	E236D	probably damaging	Het
Osbpl9	T	A	4: 108,919,763 (GRCm39)	R689*	probably null	Het
Ppargc1b	T	A	18: 61,440,639 (GRCm39)	M744L	probably benign	Het
Prss40	A	T	1: 34,591,598 (GRCm39)		probably benign	Het
Ptprd	T	A	4: 75,972,839 (GRCm39)		probably null	Het
Rft1	T	C	14: 30,385,183 (GRCm39)		probably benign	Het
Rnaset2a	T	C	17: 8,350,879 (GRCm39)	Y167C	probably damaging	Het
Schip1	T	C	3: 68,315,560 (GRCm39)		probably benign	Het
Scn5a	A	C	9: 119,359,118 (GRCm39)	L643R	possibly damaging	Het
Shroom3	T	A	5: 93,090,877 (GRCm39)	M1128K	probably benign	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Slc14a2	A	G	18: 78,252,257 (GRCm39)	L18P	probably benign	Het
Slc22a3	C	T	17: 12,642,691 (GRCm39)	V509M	probably damaging	Het
Slc7a5	A	C	8: 122,610,381 (GRCm39)	F478V	probably benign	Het
Smc1b	T	A	15: 84,980,859 (GRCm39)	N803I	probably benign	Het
Snf8	T	A	11: 95,932,551 (GRCm39)	N115K	probably damaging	Het
Stox2	T	A	8: 47,866,172 (GRCm39)	K57*	probably null	Het
Tmem248	T	A	5: 130,258,429 (GRCm39)	F41I	probably damaging	Het
Tmprss7	T	C	16: 45,506,793 (GRCm39)	S90G	probably damaging	Het
Top3b	T	C	16: 16,703,700 (GRCm39)	V285A	probably damaging	Het
Tsen15	T	C	1: 152,247,534 (GRCm39)	T153A	probably damaging	Het
Usp34	T	G	11: 23,304,846 (GRCm39)	S360A	probably benign	Het
Wdr24	T	C	17: 26,047,314 (GRCm39)		probably null	Het
Zbtb2	G	A	10: 4,319,456 (GRCm39)	T190I	probably benign	Het
Zranb3	T	C	1: 127,891,613 (GRCm39)	S788G	probably benign	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
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'- GCTTACCTTAGCTTCAGCCG -3'
(R):5'- TGGGTCAATCACCTTTAGCTATTG -3'

Sequencing Primer
(F):5'- TTAGCTTCAGCCGGGACAG -3'
(R):5'- GGATTAGTCTACAGTCATACTACCC -3'

Posted On

2017-01-03