Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00552:Rftn1'

13808

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rftn1

Ensembl Gene

ENSMUSG00000039316

Gene Name

raftlin lipid raft linker 1

Synonyms

2310015N21Rik

Accession Numbers

Essential gene?

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

Stock #

IGL00552

Quality Score

Status

Chromosome

Chromosomal Location

50300287-50497525 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50362405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 231 (V231E)

Ref Sequence

ENSEMBL: ENSMUSP00000046524 (fasta)

Gene Model

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

AlphaFold

Q6A0D4

Predicted Effect

probably benign
Transcript: ENSMUST00000044503
AA Change: V231E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000046524
Gene: ENSMUSG00000039316
AA Change: V231E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113195

SMART Domains

Protein: ENSMUSP00000108820
Gene: ENSMUSG00000039316

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156094

Coding Region Coverage

Validation Efficiency

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: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Camta1	A	T	4: 151,155,881 (GRCm39)		probably null	Het
Celsr3	A	T	9: 108,718,462 (GRCm39)	N2338Y	possibly damaging	Het
Dnm3	A	G	1: 161,839,495 (GRCm39)	V683A	probably damaging	Het
Gm11565	T	C	11: 99,805,902 (GRCm39)	L98P	probably damaging	Het
Il21r	A	T	7: 125,231,697 (GRCm39)	D375V	probably damaging	Het
Oxct2b	A	G	4: 123,011,301 (GRCm39)	D407G	probably damaging	Het
Ppp1r3a	A	G	6: 14,755,083 (GRCm39)	Y55H	probably damaging	Het
Serpini1	C	T	3: 75,548,002 (GRCm39)	R393*	probably null	Het
Sumo3	T	A	10: 77,449,860 (GRCm39)	I66N	probably damaging	Het
Ubr1	T	C	2: 120,705,888 (GRCm39)	H1525R	possibly damaging	Het
Washc2	A	G	6: 116,233,785 (GRCm39)	N937S	possibly damaging	Het
Wdr20	A	T	12: 110,745,883 (GRCm39)	K75*	probably null	Het
Zscan20	G	T	4: 128,480,428 (GRCm39)	Q688K	probably damaging	Het

Other mutations in Rftn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R8296: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

Posted On

2012-12-06