Mutagenetix > Incidental Mutation

Incidental Mutation 'R7928:Rftn1'

643442

Institutional Source

Beutler Lab

Gene Symbol

Rftn1

Ensembl Gene

ENSMUSG00000039316

Gene Name

raftlin lipid raft linker 1

Synonyms

2310015N21Rik

MMRRC Submission

045975-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R7928 (G1)

Quality Score

999

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: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

97% (30/31)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	A	15: 74,410,170 (GRCm39)	W270R	probably damaging	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
App	A	T	16: 84,775,134 (GRCm39)	V501D	probably benign	Het
Cnot6l	A	G	5: 96,278,927 (GRCm39)	V97A	possibly damaging	Het
Cntrob	A	G	11: 69,191,121 (GRCm39)	L831P	probably damaging	Het
Dmbt1	T	C	7: 130,639,620 (GRCm39)	S53P	probably benign	Het
Dnah2	T	C	11: 69,321,661 (GRCm39)	D3833G	probably damaging	Het
Dock4	T	C	12: 40,838,302 (GRCm39)	L1081P	probably damaging	Het
Dock7	T	C	4: 98,889,335 (GRCm39)	N185D		Het
Dsn1	T	C	2: 156,847,932 (GRCm39)		probably benign	Het
Evpl	T	C	11: 116,113,359 (GRCm39)	T1444A	possibly damaging	Het
Fanci	T	C	7: 79,094,459 (GRCm39)	L1130P	probably benign	Het
Fancm	A	G	12: 65,152,898 (GRCm39)	D1118G	unknown	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gm11596	A	G	11: 99,683,622 (GRCm39)	V166A	unknown	Het
Gm2696	A	T	10: 77,650,723 (GRCm39)	T70S	unknown	Het
Gm5773	A	G	3: 93,680,997 (GRCm39)	E223G	probably damaging	Het
Madd	T	A	2: 91,007,233 (GRCm39)	D293V	probably damaging	Het
Odam	A	G	5: 88,035,269 (GRCm39)	T78A	possibly damaging	Het
Or52ae9	T	A	7: 103,390,397 (GRCm39)	I17F	probably damaging	Het
Rassf3	A	G	10: 121,252,984 (GRCm39)		probably null	Het
Rhbdf1	T	C	11: 32,159,898 (GRCm39)	Y826C	possibly damaging	Het
Rnf13	C	A	3: 57,671,729 (GRCm39)	Q14K	probably benign	Het
Sec13	A	G	6: 113,706,601 (GRCm39)	S271P	probably damaging	Het
Sema6c	T	C	3: 95,079,620 (GRCm39)	L638P	probably damaging	Het
Sgsh	T	G	11: 119,238,561 (GRCm39)	H301P	probably benign	Het
Shh	T	C	5: 28,666,404 (GRCm39)	M161V	possibly damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG	CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG	16: 91,453,729 (GRCm39)		probably benign	Het
Stil	C	T	4: 114,887,198 (GRCm39)	H764Y	probably damaging	Het
Vmn1r203	C	T	13: 22,708,705 (GRCm39)	T162I	probably benign	Het
Zfp950	G	T	19: 61,107,938 (GRCm39)	P382T	probably damaging	Het
Zzef1	T	C	11: 72,712,722 (GRCm39)	M214T	probably damaging	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
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

Predicted Primers

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

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

Posted On

2020-08-07