Mutagenetix > Incidental Mutation

Incidental Mutation 'R3740:Fam174b'

270341

Institutional Source

Beutler Lab

Gene Symbol

Fam174b

Ensembl Gene

ENSMUSG00000078670

Gene Name

family with sequence similarity 174, member B

Synonyms

MMRRC Submission

040726-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R3740 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

73390055-73426667 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 73390578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103080 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107456]

AlphaFold

Q8K064

Predicted Effect

probably null
Transcript: ENSMUST00000107456

SMART Domains

Protein: ENSMUSP00000103080
Gene: ENSMUSG00000078670

Domain	Start	End	E-Value	Type
Pfam:DUF1180	7	153	7.1e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169090

SMART Domains

Protein: ENSMUSP00000128229
Gene: ENSMUSG00000091890

Domain	Start	End	E-Value	Type
low complexity region	70	98	N/A	INTRINSIC
low complexity region	107	142	N/A	INTRINSIC
low complexity region	147	161	N/A	INTRINSIC
low complexity region	169	191	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205693

Meta Mutation Damage Score

0.9499

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

94% (29/31)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	C	1: 25,865,535 (GRCm39)	R103G	probably benign	Het
Atp8b2	C	G	3: 89,853,338 (GRCm39)	A726P	probably benign	Het
Bbox1	A	G	2: 110,135,922 (GRCm39)	I19T	possibly damaging	Het
Ctso	G	A	3: 81,859,556 (GRCm39)	V288I	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Fam135a	A	T	1: 24,053,892 (GRCm39)	M1215K	probably damaging	Het
Fgfr1op2	A	G	6: 146,496,731 (GRCm39)	I190V	possibly damaging	Het
Flt1	G	A	5: 147,536,403 (GRCm39)	R813W	probably damaging	Het
Gm6489	T	A	1: 31,326,764 (GRCm39)		noncoding transcript	Het
Hacd3	T	C	9: 64,928,755 (GRCm39)	E24G	possibly damaging	Het
Kat6b	T	G	14: 21,720,112 (GRCm39)	M1488R	probably damaging	Het
Kcnk3	T	C	5: 30,779,274 (GRCm39)	V108A	possibly damaging	Het
Kif5a	A	G	10: 127,079,337 (GRCm39)	I287T	probably damaging	Het
Mical1	A	C	10: 41,355,067 (GRCm39)	D192A	probably benign	Het
Mov10l1	A	G	15: 88,896,345 (GRCm39)	N678D	possibly damaging	Het
Nup210l	A	T	3: 90,114,701 (GRCm39)	M1759L	probably benign	Het
Optn	C	A	2: 5,039,009 (GRCm39)	M371I	possibly damaging	Het
Pik3cg	T	C	12: 32,255,223 (GRCm39)	K255E	probably damaging	Het
Rims1	A	T	1: 22,443,667 (GRCm39)	V380D	probably damaging	Het
Serpinb6e	T	A	13: 34,022,943 (GRCm39)	I147F	probably benign	Het
Slc13a1	T	C	6: 24,134,476 (GRCm39)	M136V	probably damaging	Het
Syngr4	T	C	7: 45,545,194 (GRCm39)	E5G	possibly damaging	Het
Tiam2	A	G	17: 3,464,388 (GRCm39)	D39G	possibly damaging	Het
Tmem88b	A	G	4: 155,869,884 (GRCm39)	L59P	probably damaging	Het
Ttn	T	A	2: 76,620,703 (GRCm39)	K13995*	probably null	Het
Vmn1r225	A	G	17: 20,723,261 (GRCm39)	Q234R	possibly damaging	Het
Vmn2r107	A	G	17: 20,595,151 (GRCm39)	N568S	probably benign	Het
Zfp605	G	T	5: 110,276,564 (GRCm39)	G561W	probably damaging	Het
Zfp69	T	A	4: 120,788,071 (GRCm39)		probably null	Het

Other mutations in Fam174b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0218:Fam174b	UTSW	7	73,390,512 (GRCm39)	missense	probably benign	0.01
R3971:Fam174b	UTSW	7	73,416,348 (GRCm39)	missense	probably damaging	1.00
R6607:Fam174b	UTSW	7	73,416,312 (GRCm39)	missense	probably damaging	1.00
R9110:Fam174b	UTSW	7	73,416,371 (GRCm39)	splice site	probably benign
Z1177:Fam174b	UTSW	7	73,390,329 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGCGCATAGTGCACCATGAG -3'
(R):5'- ATAGAATCTAGGACTTGGAACACAC -3'

Sequencing Primer
(F):5'- ATAGTGCACCATGAGCGCCC -3'
(R):5'- AAACGGTTCCTGAGATGTGCC -3'

Posted On

2015-03-18