Mutagenetix > Incidental Mutation

Incidental Mutation 'R8296:Rftn1'

638981

Institutional Source

Beutler Lab

Gene Symbol

Rftn1

Ensembl Gene

ENSMUSG00000039316

Gene Name

raftlin lipid raft linker 1

Synonyms

2310015N21Rik

MMRRC Submission

067785-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R8296 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50300287-50497525 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 50354408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 318 (A318D)

Ref Sequence

ENSEMBL: ENSMUSP00000046524 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044503] [ENSMUST00000113195]

AlphaFold

Q6A0D4

Predicted Effect

probably damaging
Transcript: ENSMUST00000044503
AA Change: A318D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046524
Gene: ENSMUSG00000039316
AA Change: A318D

Domain	Start	End	E-Value	Type
Pfam:Raftlin	1	473	1.3e-219	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113195
AA Change: A40D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108820
Gene: ENSMUSG00000039316
AA Change: A40D

Domain	Start	End	E-Value	Type
Pfam:Raftlin	1	207	1.5e-104	PFAM

Meta Mutation Damage Score

0.3897

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (77/77)

MGI Phenotype

PHENOTYPE: Mice homozygous for null mutations have defects in T cell activation, T cell help to B cells, and Th17 differentation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,415,896 (GRCm39)	L663Q	probably damaging	Het
2610008E11Rik	C	G	10: 78,903,568 (GRCm39)	R249S	probably benign	Het
6030469F06Rik	A	G	12: 31,235,058 (GRCm39)	N146S	noncoding transcript	Het
Abcb5	G	A	12: 118,838,467 (GRCm39)	P1032S	probably benign	Het
Acvr2a	A	T	2: 48,789,736 (GRCm39)	D493V	possibly damaging	Het
Amacr	A	G	15: 10,995,004 (GRCm39)	D272G	probably benign	Het
Bach1	A	C	16: 87,526,467 (GRCm39)	K643T	probably damaging	Het
Bmt2	T	C	6: 13,628,672 (GRCm39)	Y337C	probably damaging	Het
Bsn	A	G	9: 107,994,578 (GRCm39)	S566P	probably benign	Het
Cass4	A	C	2: 172,269,094 (GRCm39)	D392A	probably benign	Het
Cbx2	A	G	11: 118,918,954 (GRCm39)	E173G	probably damaging	Het
Ccdc166	G	C	15: 75,852,860 (GRCm39)	A369G	probably benign	Het
Ccdc77	G	A	6: 120,308,870 (GRCm39)	T315M	possibly damaging	Het
Ceacam10	C	A	7: 24,480,513 (GRCm39)	H215N	unknown	Het
Ces1e	C	T	8: 93,929,947 (GRCm39)	M445I	probably benign	Het
Ces2b	T	G	8: 105,563,112 (GRCm39)	V350G	possibly damaging	Het
Chtf18	A	G	17: 25,941,165 (GRCm39)	L611P	probably benign	Het
Col9a1	C	A	1: 24,217,380 (GRCm39)	P19T	unknown	Het
Csf1r	A	T	18: 61,250,750 (GRCm39)	N487I	probably damaging	Het
Csl	A	T	10: 99,594,161 (GRCm39)	H301Q	probably damaging	Het
Cyp24a1	G	A	2: 170,332,036 (GRCm39)	T330M	probably damaging	Het
Ddb2	T	C	2: 91,042,645 (GRCm39)	D405G	probably damaging	Het
Degs1	A	G	1: 182,110,241 (GRCm39)	F10L	probably benign	Het
Dhrs2	T	A	14: 55,477,928 (GRCm39)	I220N	probably damaging	Het
Dlg5	T	C	14: 24,198,328 (GRCm39)	D1535G	possibly damaging	Het
Dpy19l1	A	G	9: 24,414,372 (GRCm39)	S19P	probably benign	Het
Eif3l	A	C	15: 78,963,220 (GRCm39)	E134A	possibly damaging	Het
Epb41	C	A	4: 131,664,772 (GRCm39)	V90L		Het
Flad1	A	T	3: 89,316,109 (GRCm39)	V151D	probably damaging	Het
Gja10	A	T	4: 32,601,568 (GRCm39)	I272N	probably benign	Het
Glmp	T	A	3: 88,233,580 (GRCm39)	D178E	probably benign	Het
Gm16494	G	A	17: 47,327,750 (GRCm39)	P45S	probably damaging	Het
Gm4553	T	C	7: 141,719,458 (GRCm39)	D6G	unknown	Het
Grid2	G	A	6: 63,233,929 (GRCm39)		probably null	Het
Icmt	A	G	4: 152,387,482 (GRCm39)	M226V	probably benign	Het
Igkv5-39	T	C	6: 69,877,607 (GRCm39)	S50G	probably benign	Het
Ints5	T	C	19: 8,872,484 (GRCm39)	S148P	probably damaging	Het
Itga2b	A	C	11: 102,351,985 (GRCm39)	V504G	possibly damaging	Het
Krt20	T	A	11: 99,323,063 (GRCm39)	Y253F	probably damaging	Het
Man2a2	T	A	7: 80,018,656 (GRCm39)	I68L	probably damaging	Het
Mpi	G	A	9: 57,455,954 (GRCm39)	T176I	probably benign	Het
Msh6	C	T	17: 88,294,340 (GRCm39)	R1032C	probably damaging	Het
Myot	C	T	18: 44,475,416 (GRCm39)	T179I	probably damaging	Het
Neb	A	G	2: 52,116,601 (GRCm39)	S946P		Het
Notch3	G	A	17: 32,341,713 (GRCm39)	A2013V	probably damaging	Het
Nr1d1	T	C	11: 98,662,133 (GRCm39)	Y167C	probably damaging	Het
Or52h7	T	A	7: 104,213,593 (GRCm39)	F55Y	probably benign	Het
Or52n2c	T	C	7: 104,574,828 (GRCm39)	I48V	probably benign	Het
Or7g32	A	G	9: 19,408,377 (GRCm39)	E111G	probably damaging	Het
Or8k40	A	C	2: 86,584,893 (GRCm39)	L63R	probably damaging	Het
P4ha3	G	A	7: 99,966,309 (GRCm39)	V485M	probably damaging	Het
Pbk	T	A	14: 66,054,185 (GRCm39)	C243*	probably null	Het
Pde4b	T	A	4: 102,459,983 (GRCm39)	L388H	possibly damaging	Het
Pecam1	T	C	11: 106,579,745 (GRCm39)	D439G	probably benign	Het
Pknox2	A	T	9: 36,822,459 (GRCm39)	M230K	probably benign	Het
Plekhh2	A	G	17: 84,908,113 (GRCm39)	I1185V	probably damaging	Het
Polr3g	A	G	13: 81,842,682 (GRCm39)	V111A	unknown	Het
Prkcg	G	C	7: 3,377,580 (GRCm39)	E562D	probably benign	Het
Rnf123	A	T	9: 107,940,089 (GRCm39)	V768D	probably damaging	Het
Rps16	T	A	7: 28,052,008 (GRCm39)	S129T	probably benign	Het
Scg2	A	T	1: 79,413,222 (GRCm39)	N460K	probably benign	Het
Sct	T	C	7: 140,858,807 (GRCm39)	S42G	probably damaging	Het
Spef2	A	T	15: 9,727,629 (GRCm39)	N151K	probably benign	Het
Syce1l	C	A	8: 114,380,721 (GRCm39)	D144E	possibly damaging	Het
Syt17	T	C	7: 118,036,069 (GRCm39)	Y99C	probably damaging	Het
Tgfbr3	T	C	5: 107,287,640 (GRCm39)	N520D	probably damaging	Het
Thsd7b	A	G	1: 129,523,193 (GRCm39)	S76G	probably benign	Het
Tmem63a	G	T	1: 180,788,685 (GRCm39)	V341F	probably benign	Het
Trim5	A	G	7: 103,914,993 (GRCm39)	S359P	probably damaging	Het
Tst	A	T	15: 78,284,020 (GRCm39)	V269E	probably damaging	Het
Ubr3	A	T	2: 69,784,706 (GRCm39)	I808F	probably null	Het
Ugt3a1	T	A	15: 9,362,024 (GRCm39)	Y267N	probably benign	Het
Wwc1	A	T	11: 35,761,384 (GRCm39)		probably benign	Het
Zfp36l2	G	T	17: 84,494,552 (GRCm39)	N28K	probably damaging	Het
Zfp57	A	G	17: 37,321,136 (GRCm39)	D330G	probably benign	Het
Zgrf1	C	A	3: 127,377,644 (GRCm39)	S963Y	probably damaging	Het
Zranb2	A	G	3: 157,247,412 (GRCm39)	K197E	unknown	Het

Other mutations in Rftn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00552:Rftn1	APN	17	50,362,405 (GRCm39)	missense	probably benign	0.01
IGL02318:Rftn1	APN	17	50,343,998 (GRCm39)	missense	possibly damaging	0.95
IGL02568:Rftn1	APN	17	50,344,027 (GRCm39)	missense	probably damaging	1.00
IGL02873:Rftn1	APN	17	50,476,180 (GRCm39)	utr 5 prime	probably benign
IGL02965:Rftn1	APN	17	50,362,280 (GRCm39)	missense	probably benign	0.32
BB001:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
BB003:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
BB004:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
BB005:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
BB011:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
BB013:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
BB014:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
BB015:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
R0544:Rftn1	UTSW	17	50,301,289 (GRCm39)	missense	possibly damaging	0.71
R2219:Rftn1	UTSW	17	50,476,173 (GRCm39)	start codon destroyed	probably null	1.00
R4542:Rftn1	UTSW	17	50,362,259 (GRCm39)	splice site	probably null
R5318:Rftn1	UTSW	17	50,301,486 (GRCm39)	missense	probably benign	0.09
R5605:Rftn1	UTSW	17	50,354,435 (GRCm39)	missense	probably damaging	1.00
R5700:Rftn1	UTSW	17	50,309,697 (GRCm39)	missense	probably damaging	1.00
R5853:Rftn1	UTSW	17	50,354,354 (GRCm39)	missense	probably damaging	1.00
R6459:Rftn1	UTSW	17	50,354,334 (GRCm39)	missense	probably benign	0.02
R6994:Rftn1	UTSW	17	50,344,019 (GRCm39)	missense	possibly damaging	0.82
R7210:Rftn1	UTSW	17	50,301,335 (GRCm39)	nonsense	probably null
R7283:Rftn1	UTSW	17	50,354,469 (GRCm39)	missense	probably damaging	1.00
R7348:Rftn1	UTSW	17	50,311,351 (GRCm39)	missense	probably damaging	1.00
R7444:Rftn1	UTSW	17	50,354,435 (GRCm39)	missense	probably damaging	1.00
R7684:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
R7685:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
R7686:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
R7881:Rftn1	UTSW	17	50,354,463 (GRCm39)	missense	probably benign	0.08
R7924:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
R7926:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
R7927:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
R7928:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
R7943:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
R8052:Rftn1	UTSW	17	50,393,607 (GRCm39)	missense	probably damaging	0.98
R8162:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
R8164:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
R8248:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
R8249:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
R8250:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
R8271:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
R8272:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
R8273:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
R8297:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
R8300:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
R8315:Rftn1	UTSW	17	50,309,665 (GRCm39)	missense	possibly damaging	0.50
R8551:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
R8552:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
R8554:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
R8555:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
R8725:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
R8736:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
R8739:Rftn1	UTSW	17	50,354,408 (GRCm39)	missense	probably damaging	1.00
R9526:Rftn1	UTSW	17	50,301,237 (GRCm39)	missense	probably benign	0.31
Z1176:Rftn1	UTSW	17	50,476,031 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTAGCCTTTGTGAGATCTGCC -3'
(R):5'- ATTGGTTCTGTGGGCTAACCTC -3'

Sequencing Primer
(F):5'- TGAGATCTGCCCAAGCTATG -3'
(R):5'- GTGGGCTAACCTCTCTCTTTATC -3'

Posted On

2020-07-28