Mutagenetix > Incidental Mutation

Incidental Mutation 'R1333:Fam163b'

156758

Institutional Source

Beutler Lab

Gene Symbol

Fam163b

Ensembl Gene

ENSMUSG00000009216

Gene Name

family with sequence similarity 163, member B

Synonyms

C630035N08Rik

MMRRC Submission

039398-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R1333 (G1)

Quality Score

161

Status

Validated

Chromosome

Chromosomal Location

27000391-27032489 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to G at 27003659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127556 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091233] [ENSMUST00000151224]

AlphaFold

Q8BUM6

Predicted Effect

probably benign
Transcript: ENSMUST00000091233

SMART Domains

Protein: ENSMUSP00000088774
Gene: ENSMUSG00000036040

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
TSP1	50	106	5.14e-7	SMART
Pfam:ADAM_spacer1	214	331	5.4e-28	PFAM
low complexity region	345	358	N/A	INTRINSIC
TSP1	573	629	8.15e-1	SMART
TSP1	631	692	1.85e-2	SMART
TSP1	694	744	4.15e-1	SMART
TSP1	747	796	9.98e-5	SMART
TSP1	803	861	4.95e-2	SMART
TSP1	863	914	2.53e-6	SMART
Pfam:PLAC	922	953	1.4e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139633

Predicted Effect

probably benign
Transcript: ENSMUST00000151224

SMART Domains

Protein: ENSMUSP00000127556
Gene: ENSMUSG00000009216

Domain	Start	End	E-Value	Type
Pfam:FAM163	1	167	1.2e-68	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169787

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.2%
20x: 90.3%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	A	G	8: 114,431,805 (GRCm39)		probably benign	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Amt	A	G	9: 108,178,296 (GRCm39)	D301G	probably benign	Het
Arhgef26	T	C	3: 62,247,744 (GRCm39)	V276A	probably benign	Het
Bid	C	T	6: 120,874,216 (GRCm39)	A110T	possibly damaging	Het
Ccdc63	T	C	5: 122,246,224 (GRCm39)	T566A	probably benign	Het
Cdk5rap1	A	G	2: 154,202,574 (GRCm39)	S219P	probably damaging	Het
Col1a2	T	A	6: 4,515,684 (GRCm39)		probably null	Het
Ctns	G	A	11: 73,075,823 (GRCm39)	T342I	probably benign	Het
Dst	G	A	1: 34,267,428 (GRCm39)	E4957K	probably damaging	Het
Elp1	C	T	4: 56,770,969 (GRCm39)		probably benign	Het
Frem2	T	C	3: 53,457,152 (GRCm39)	T2067A	probably benign	Het
Gm7353	C	T	7: 3,159,066 (GRCm39)		noncoding transcript	Het
Gm9791	T	C	3: 34,059,225 (GRCm39)		noncoding transcript	Het
Grik2	G	T	10: 49,404,087 (GRCm39)	T258N	probably damaging	Het
Herc3	T	C	6: 58,864,478 (GRCm39)	L704P	probably damaging	Het
Hjurp	A	C	1: 88,193,768 (GRCm39)	V380G	probably damaging	Het
Lrrc56	A	G	7: 140,778,177 (GRCm39)		probably benign	Het
Mast3	G	A	8: 71,233,938 (GRCm39)	P187S	probably damaging	Het
Mier2	A	G	10: 79,380,991 (GRCm39)	V231A	probably benign	Het
Muc5b	A	G	7: 141,422,144 (GRCm39)	T4427A	possibly damaging	Het
Nox4	A	G	7: 86,896,072 (GRCm39)	S7G	possibly damaging	Het
Obscn	G	C	11: 58,971,143 (GRCm39)	Q2457E	probably damaging	Het
Sh3bgrl2	C	T	9: 83,459,684 (GRCm39)		probably benign	Het
Slc1a1	A	G	19: 28,812,611 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Stat6	G	C	10: 127,487,094 (GRCm39)	R200S	possibly damaging	Het
Stxbp5l	C	A	16: 37,068,231 (GRCm39)		probably null	Het
Tanc1	A	G	2: 59,673,835 (GRCm39)	S1647G	probably benign	Het
Tmem132d	T	A	5: 127,861,923 (GRCm39)	M733L	probably benign	Het
Unc13d	A	G	11: 115,964,381 (GRCm39)		probably benign	Het
Usp24	T	C	4: 106,199,550 (GRCm39)	S165P	possibly damaging	Het
Vmn1r9	T	C	6: 57,048,615 (GRCm39)	I230T	probably damaging	Het
Zscan20	T	C	4: 128,481,889 (GRCm39)	D591G	possibly damaging	Het

Other mutations in Fam163b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Fam163b	APN	2	27,003,597 (GRCm39)	missense	probably damaging	1.00
IGL01602:Fam163b	APN	2	27,002,688 (GRCm39)	missense	probably damaging	0.99
IGL01605:Fam163b	APN	2	27,002,688 (GRCm39)	missense	probably damaging	0.99
IGL02074:Fam163b	APN	2	27,003,570 (GRCm39)	missense	probably damaging	1.00
IGL02582:Fam163b	APN	2	27,003,570 (GRCm39)	missense	probably damaging	1.00
R0238:Fam163b	UTSW	2	27,002,646 (GRCm39)	missense	probably damaging	1.00
R0238:Fam163b	UTSW	2	27,002,646 (GRCm39)	missense	probably damaging	1.00
R0535:Fam163b	UTSW	2	27,002,778 (GRCm39)	missense	probably benign	0.05
R0611:Fam163b	UTSW	2	27,003,583 (GRCm39)	missense	probably damaging	1.00
R1768:Fam163b	UTSW	2	27,002,874 (GRCm39)	missense	possibly damaging	0.86
R2437:Fam163b	UTSW	2	27,002,698 (GRCm39)	missense	probably damaging	1.00
R5096:Fam163b	UTSW	2	27,002,761 (GRCm39)	missense	probably benign	0.00
R6277:Fam163b	UTSW	2	27,002,763 (GRCm39)	missense	probably benign	0.45
R7142:Fam163b	UTSW	2	27,003,567 (GRCm39)	missense	probably damaging	1.00
R7648:Fam163b	UTSW	2	27,002,752 (GRCm39)	missense	probably benign	0.00
R8361:Fam163b	UTSW	2	27,002,650 (GRCm39)	missense	probably benign	0.00
R8363:Fam163b	UTSW	2	27,002,650 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGATAGCTGACCACTGAACAGCAC -3'
(R):5'- ACCTTTTACAAACAGGGAAGCTGAGAC -3'

Sequencing Primer
(F):5'- GAAGTCTGGCTGTACCCTC -3'
(R):5'- ggaagctgagactaagaggtg -3'

Posted On

2014-02-11