Mutagenetix > Incidental Mutation

Incidental Mutation 'R1328:Fam181b'

247310

Institutional Source

Beutler Lab

Gene Symbol

Fam181b

Ensembl Gene

ENSMUSG00000051515

Gene Name

family with sequence similarity 181, member B

Synonyms

A830059I20Rik

MMRRC Submission

039394-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.203) question?

Stock #

R1328 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

92729087-92730929 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92729437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 70 (I70T)

Ref Sequence

ENSEMBL: ENSMUSP00000146473 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051179]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000051179
AA Change: I70T

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000098303

SMART Domains

Protein: ENSMUSP00000095904
Gene: ENSMUSG00000054061

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
low complexity region	41	62	N/A	INTRINSIC
low complexity region	111	143	N/A	INTRINSIC
low complexity region	167	195	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181886

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191246

Meta Mutation Damage Score

0.2332

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.2%
20x: 89.9%

Validation Efficiency

100% (37/37)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal fertility and morphology. [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
Acp4	C	T	7: 43,906,516 (GRCm39)		probably null	Het
Bcap29	T	C	12: 31,680,807 (GRCm39)	I60V	probably benign	Het
Ccdc71	T	A	9: 108,340,148 (GRCm39)		probably benign	Het
Ccnb1ip1	A	T	14: 51,027,382 (GRCm39)	V240E	probably benign	Het
Copa	C	T	1: 171,949,258 (GRCm39)		probably benign	Het
Dmxl2	G	T	9: 54,303,533 (GRCm39)	Q2314K	probably benign	Het
Fbxl14	T	C	6: 119,457,347 (GRCm39)	L176P	possibly damaging	Het
Fip1l1	T	A	5: 74,706,796 (GRCm39)	F144L	possibly damaging	Het
Flnc	T	C	6: 29,438,612 (GRCm39)	W169R	probably damaging	Het
H2-M3	T	C	17: 37,581,925 (GRCm39)	V127A	possibly damaging	Het
Il23r	T	A	6: 67,468,802 (GRCm39)		probably benign	Het
Krt18	C	T	15: 101,939,169 (GRCm39)	A251V	probably benign	Het
Mast1	A	G	8: 85,644,617 (GRCm39)		probably benign	Het
Or6c202	A	G	10: 128,996,293 (GRCm39)	S187P	possibly damaging	Het
Or9i14	G	A	19: 13,792,900 (GRCm39)	T18I	probably benign	Het
Pkhd1l1	T	C	15: 44,361,392 (GRCm39)	Y481H	probably benign	Het
Polr3e	C	T	7: 120,533,046 (GRCm39)		probably benign	Het
Pou4f2	G	A	8: 79,162,759 (GRCm39)	A92V	probably benign	Het
Pramel5	A	G	4: 143,998,058 (GRCm39)	L395P	probably damaging	Het
Prmt9	T	C	8: 78,299,283 (GRCm39)	I659T	possibly damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rrp36	T	A	17: 46,983,705 (GRCm39)	K36*	probably null	Het
Sag	G	A	1: 87,738,016 (GRCm39)		probably benign	Het
Setd7	T	C	3: 51,450,240 (GRCm39)	Y62C	possibly damaging	Het
Smr2	AT	ATT	5: 88,256,683 (GRCm39)		probably null	Het
Sox13	T	C	1: 133,311,555 (GRCm39)	D559G	probably damaging	Het
Srd5a1	T	A	13: 69,723,310 (GRCm39)	Y236F	probably damaging	Het
Stxbp2	A	T	8: 3,692,657 (GRCm39)	I570F	possibly damaging	Het
Tbc1d31	T	C	15: 57,805,859 (GRCm39)		probably benign	Het
Trim33	A	G	3: 103,260,913 (GRCm39)	T1064A	possibly damaging	Het
Vmn1r8	T	C	6: 57,013,278 (GRCm39)	S110P	possibly damaging	Het
Vmn2r118	C	A	17: 55,915,620 (GRCm39)	M443I	probably benign	Het

Other mutations in Fam181b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1447:Fam181b	UTSW	7	92,729,368 (GRCm39)	missense	probably damaging	0.99
R2055:Fam181b	UTSW	7	92,729,634 (GRCm39)	missense	probably benign
R4086:Fam181b	UTSW	7	92,729,788 (GRCm39)	missense	probably benign
R4600:Fam181b	UTSW	7	92,729,992 (GRCm39)	missense	possibly damaging	0.73
R5048:Fam181b	UTSW	7	92,729,147 (GRCm39)	utr 5 prime	probably benign
R5096:Fam181b	UTSW	7	92,730,452 (GRCm39)	utr 3 prime	probably benign
R7171:Fam181b	UTSW	7	92,729,943 (GRCm39)	missense	possibly damaging	0.49
R7429:Fam181b	UTSW	7	92,729,403 (GRCm39)	missense	probably benign	0.17
R7430:Fam181b	UTSW	7	92,729,403 (GRCm39)	missense	probably benign	0.17
R8555:Fam181b	UTSW	7	92,729,296 (GRCm39)	missense	probably damaging	0.99
R9001:Fam181b	UTSW	7	92,730,356 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTCGGTTTCGGAGGCTCCGC -3'
(R):5'- ACCCGAATCGTTGCCACTGC -3'

Sequencing Primer
(F):5'- GTTTCGAAGACGATGAGAGC -3'
(R):5'- CCGGGATGGTTCAGTGAAG -3'

Posted On

2014-11-07