Mutagenetix > Incidental Mutation

Incidental Mutation 'R0067:Rflnb'

16521

Institutional Source

Beutler Lab

Gene Symbol

Rflnb

Ensembl Gene

ENSMUSG00000020846

Gene Name

refilin B

Synonyms

cfm, RefilinB, 1500005K14Rik, Fam101b

MMRRC Submission

038358-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0067 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

75910020-75918608 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75912987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 134 (S134T)

Ref Sequence

ENSEMBL: ENSMUSP00000021207 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021207]

AlphaFold

Q5SVD0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021207
AA Change: S134T

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000021207
Gene: ENSMUSG00000020846
AA Change: S134T

Domain	Start	End	E-Value	Type
Pfam:FAM101	1	204	5.6e-96	PFAM

Meta Mutation Damage Score

0.0671

Coding Region Coverage

1x: 87.3%
3x: 82.3%
10x: 64.1%
20x: 35.8%

Validation Efficiency

96% (73/76)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele are viable, fertile, and overtly normal, with no alterations in forebrain and midbrain development, survival, body weight and body length, tibia length or lumbar disk morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	C	T	7: 28,610,995 (GRCm39)	V248M	possibly damaging	Het
AW209491	A	T	13: 14,812,328 (GRCm39)	I394F	probably benign	Het
Cacna1d	A	T	14: 29,796,967 (GRCm39)		probably benign	Het
Cacna1i	A	T	15: 80,265,373 (GRCm39)	I1542F	probably damaging	Het
Cep97	A	T	16: 55,735,924 (GRCm39)	N291K	possibly damaging	Het
Clasp2	A	T	9: 113,689,209 (GRCm39)		probably benign	Het
Dennd1c	T	C	17: 57,382,465 (GRCm39)	Q67R	probably damaging	Het
Eva1c	A	T	16: 90,663,305 (GRCm39)	D13V	possibly damaging	Het
Fam151b	T	C	13: 92,610,504 (GRCm39)	K95R	probably benign	Het
Gm13941	T	C	2: 110,889,761 (GRCm39)		noncoding transcript	Het
Gps2	C	T	11: 69,805,607 (GRCm39)	Q42*	probably null	Het
Hivep1	T	A	13: 42,312,132 (GRCm39)	D1457E	probably benign	Het
L3mbtl1	A	G	2: 162,790,748 (GRCm39)	K225E	probably damaging	Het
Limch1	A	G	5: 67,131,965 (GRCm39)	S143G	probably damaging	Het
Macf1	T	C	4: 123,369,041 (GRCm39)	K342E	possibly damaging	Het
Mc5r	T	G	18: 68,472,637 (GRCm39)	M332R	probably damaging	Het
Mcf2l	A	G	8: 13,063,060 (GRCm39)	T882A	probably benign	Het
Mtrex	C	T	13: 113,023,396 (GRCm39)	V727I	probably benign	Het
Myf6	A	T	10: 107,329,340 (GRCm39)		probably null	Het
Plekha5	C	T	6: 140,470,629 (GRCm39)	T90I	probably damaging	Het
Ptbp2	T	C	3: 119,514,290 (GRCm39)	T478A	probably benign	Het
Rasgrp1	C	A	2: 117,125,301 (GRCm39)	R246S	probably damaging	Het
Rnf214	A	G	9: 45,778,796 (GRCm39)		probably null	Het
Satb1	T	C	17: 52,111,364 (GRCm39)	T165A	probably damaging	Het
Scamp1	T	C	13: 94,340,658 (GRCm39)	Y237C	probably damaging	Het
Skint10	A	T	4: 112,568,753 (GRCm39)	F321L	probably benign	Het
Slc8a1	A	G	17: 81,745,188 (GRCm39)	V672A	probably benign	Het
Spats2	C	A	15: 99,110,168 (GRCm39)	P522T	possibly damaging	Het
Stkld1	A	T	2: 26,839,352 (GRCm39)	E339D	probably benign	Het
Tbc1d9	A	G	8: 83,960,872 (GRCm39)	T241A	probably damaging	Het
Ticrr	A	T	7: 79,327,158 (GRCm39)	D622V	probably damaging	Het
Trmt1l	T	C	1: 151,324,131 (GRCm39)	V326A	probably benign	Het
Ube3c	A	G	5: 29,803,936 (GRCm39)	T180A	possibly damaging	Het
Unc13a	A	C	8: 72,087,302 (GRCm39)	F1482V	probably damaging	Het
Unc79	A	G	12: 103,025,777 (GRCm39)	E388G	probably damaging	Het
Ush2a	A	T	1: 188,697,043 (GRCm39)	D5167V	probably damaging	Het
Vmn2r93	A	T	17: 18,546,672 (GRCm39)	H848L	probably benign	Het
Zcchc9	T	C	13: 91,945,368 (GRCm39)	I72V	probably benign	Het
Zfc3h1	G	T	10: 115,259,379 (GRCm39)	L1650F	possibly damaging	Het
Zzz3	A	G	3: 152,134,040 (GRCm39)	D366G	possibly damaging	Het

Other mutations in Rflnb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0067:Rflnb	UTSW	11	75,912,987 (GRCm39)	missense	possibly damaging	0.70
R0144:Rflnb	UTSW	11	75,915,789 (GRCm39)	missense	probably damaging	1.00
R0692:Rflnb	UTSW	11	75,918,279 (GRCm39)	missense	probably benign
R4904:Rflnb	UTSW	11	75,912,964 (GRCm39)	nonsense	probably null
R5757:Rflnb	UTSW	11	75,912,992 (GRCm39)	missense	probably damaging	0.98
R5870:Rflnb	UTSW	11	75,912,864 (GRCm39)	missense	probably benign	0.00
R8548:Rflnb	UTSW	11	75,913,047 (GRCm39)	missense	probably damaging	1.00
R9473:Rflnb	UTSW	11	75,913,064 (GRCm39)	missense	probably damaging	0.98
R9562:Rflnb	UTSW	11	75,912,951 (GRCm39)	missense	probably damaging	0.98

Posted On

2013-01-20