Mutagenetix > Incidental Mutation

Incidental Mutation 'R9305:Fads2b'

705147

Institutional Source

Beutler Lab

Gene Symbol

Fads2b

Ensembl Gene

ENSMUSG00000075217

Gene Name

fatty acid desaturase 2B

Synonyms

4833423E24Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R9305 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85314436-85349279 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 85330649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 219 (C219*)

Ref Sequence

ENSEMBL: ENSMUSP00000097507 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099923]

AlphaFold

Q0VAX3

Predicted Effect

probably null
Transcript: ENSMUST00000099923
AA Change: C219*

SMART Domains

Protein: ENSMUSP00000097507
Gene: ENSMUSG00000075217
AA Change: C219*

Domain	Start	End	E-Value	Type
Cyt-b5	65	139	6.6e-20	SMART
transmembrane domain	176	195	N/A	INTRINSIC
Pfam:FA_desaturase	200	462	1.7e-39	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,126,989 (GRCm39)	I1227V	probably benign	Het
Abhd8	A	G	8: 71,911,148 (GRCm39)	V261A	possibly damaging	Het
Adam34	A	T	8: 44,104,416 (GRCm39)	C410S	probably damaging	Het
Adamts17	T	C	7: 66,489,645 (GRCm39)	L21P	probably damaging	Het
Adgre1	A	G	17: 57,748,275 (GRCm39)	N492D	probably benign	Het
Aldh1b1	G	A	4: 45,803,811 (GRCm39)	V450M	probably damaging	Het
Apob	A	G	12: 8,058,053 (GRCm39)	I2178M	probably benign	Het
Atp9a	A	T	2: 168,517,163 (GRCm39)	I390N	probably benign	Het
Bltp1	A	G	3: 37,098,969 (GRCm39)	I1277V		Het
Cacng2	T	G	15: 77,897,542 (GRCm39)	Y89S	possibly damaging	Het
Capn10	T	C	1: 92,871,665 (GRCm39)		probably null	Het
Casq2	A	G	3: 102,052,700 (GRCm39)	D404G	unknown	Het
Cdh9	T	A	15: 16,832,138 (GRCm39)	Y342N	probably damaging	Het
Cenpf	T	C	1: 189,392,271 (GRCm39)		probably null	Het
Cep295nl	G	A	11: 118,224,766 (GRCm39)	P26L	possibly damaging	Het
Chmp4c	T	G	3: 10,454,974 (GRCm39)	S214A	probably benign	Het
Clstn2	T	A	9: 97,343,537 (GRCm39)	I637F	probably damaging	Het
Csmd1	G	T	8: 16,011,532 (GRCm39)	T2507K	probably benign	Het
Ddx55	C	T	5: 124,705,012 (GRCm39)	S427F	probably damaging	Het
Dpysl5	T	C	5: 30,948,959 (GRCm39)	W405R	probably damaging	Het
Esyt1	A	G	10: 128,355,388 (GRCm39)	V451A	possibly damaging	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Foxa3	A	G	7: 18,748,961 (GRCm39)	L55P	possibly damaging	Het
Gng2	G	T	14: 19,925,961 (GRCm39)	H44N	probably damaging	Het
Hps5	G	A	7: 46,438,619 (GRCm39)	T38I	possibly damaging	Het
Igf2	G	A	7: 142,208,153 (GRCm39)	R64C	probably damaging	Het
Klb	T	A	5: 65,505,988 (GRCm39)	Y78*	probably null	Het
Krt32	T	C	11: 99,972,029 (GRCm39)	T440A	probably benign	Het
Kynu	T	A	2: 43,569,768 (GRCm39)	F350Y	probably damaging	Het
Lrp1b	A	T	2: 41,618,574 (GRCm39)	S281T		Het
Lrrc43	C	T	5: 123,646,219 (GRCm39)	A657V	unknown	Het
Mief2	C	A	11: 60,622,042 (GRCm39)	P204Q	possibly damaging	Het
Morc3	G	T	16: 93,667,302 (GRCm39)	R560L	probably benign	Het
Or2y3	A	T	17: 38,393,629 (GRCm39)	V80D	probably damaging	Het
Or8c20	A	C	9: 38,260,381 (GRCm39)	M1L	probably benign	Het
Orc3	G	A	4: 34,607,181 (GRCm39)	R50*	probably null	Het
Osbpl6	T	A	2: 76,378,716 (GRCm39)	D124E	probably damaging	Het
Parp4	TG	T	14: 56,832,790 (GRCm39)		probably null	Het
Parp4	T	C	14: 56,852,224 (GRCm39)		probably null	Het
Pcdhb18	A	C	18: 37,625,004 (GRCm39)	H778P	probably benign	Het
Polg	A	T	7: 79,105,860 (GRCm39)	Y710N	probably benign	Het
Ppp2r2b	C	A	18: 42,779,025 (GRCm39)	R370L	possibly damaging	Het
Prune2	A	G	19: 17,097,625 (GRCm39)	D1043G	probably benign	Het
Rpl6	T	C	5: 121,346,516 (GRCm39)	S206P	possibly damaging	Het
Serpina3i	T	C	12: 104,234,881 (GRCm39)	V404A	probably damaging	Het
Serpinb8	T	C	1: 107,526,769 (GRCm39)		probably null	Het
Stx11	A	T	10: 12,817,564 (GRCm39)	D53E	probably benign	Het
Thoc3	C	T	13: 54,607,998 (GRCm39)	W315*	probably null	Het
Tmem26	G	A	10: 68,559,816 (GRCm39)	W29*	probably null	Het
Togaram2	A	G	17: 71,996,408 (GRCm39)	E137G	probably damaging	Het
Ttc39b	A	G	4: 83,151,023 (GRCm39)	L524S	probably damaging	Het
Usp43	T	C	11: 67,767,345 (GRCm39)	N675S	probably damaging	Het
Vmn2r104	A	G	17: 20,268,439 (GRCm39)	L10P	possibly damaging	Het
Zbtb1	G	A	12: 76,432,773 (GRCm39)	R253Q	probably damaging	Het
Zfc3h1	A	G	10: 115,255,771 (GRCm39)	D1474G	probably benign	Het
Zfp873	T	C	10: 81,896,514 (GRCm39)	F415S	probably benign	Het

Other mutations in Fads2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01754:Fads2b	APN	2	85,348,899 (GRCm39)	missense	probably damaging	1.00
IGL02348:Fads2b	APN	2	85,323,640 (GRCm39)	missense	possibly damaging	0.70
IGL02701:Fads2b	APN	2	85,314,513 (GRCm39)	missense	probably damaging	1.00
IGL02833:Fads2b	APN	2	85,332,551 (GRCm39)	missense	possibly damaging	0.46
IGL03152:Fads2b	APN	2	85,330,648 (GRCm39)	missense	probably damaging	0.98
IGL03283:Fads2b	APN	2	85,320,751 (GRCm39)	missense	probably damaging	1.00
R0083:Fads2b	UTSW	2	85,324,476 (GRCm39)	missense	possibly damaging	0.50
R0329:Fads2b	UTSW	2	85,348,895 (GRCm39)	missense	probably benign	0.11
R0330:Fads2b	UTSW	2	85,348,895 (GRCm39)	missense	probably benign	0.11
R0943:Fads2b	UTSW	2	85,319,109 (GRCm39)	missense	probably damaging	0.99
R2100:Fads2b	UTSW	2	85,330,593 (GRCm39)	missense	probably damaging	1.00
R3694:Fads2b	UTSW	2	85,324,454 (GRCm39)	missense	probably benign	0.00
R3803:Fads2b	UTSW	2	85,338,682 (GRCm39)	splice site	probably null
R3952:Fads2b	UTSW	2	85,330,548 (GRCm39)	splice site	probably benign
R4161:Fads2b	UTSW	2	85,348,853 (GRCm39)	missense	probably damaging	1.00
R4630:Fads2b	UTSW	2	85,348,990 (GRCm39)	nonsense	probably null
R5765:Fads2b	UTSW	2	85,314,538 (GRCm39)	critical splice acceptor site	probably null
R6104:Fads2b	UTSW	2	85,338,693 (GRCm39)	nonsense	probably null
R6314:Fads2b	UTSW	2	85,332,520 (GRCm39)	missense	probably benign	0.07
R6891:Fads2b	UTSW	2	85,319,157 (GRCm39)	missense	probably damaging	1.00
R6891:Fads2b	UTSW	2	85,319,149 (GRCm39)	missense	possibly damaging	0.80
R7027:Fads2b	UTSW	2	85,315,871 (GRCm39)	missense	probably damaging	1.00
R7235:Fads2b	UTSW	2	85,330,563 (GRCm39)	missense	probably damaging	1.00
R7635:Fads2b	UTSW	2	85,330,581 (GRCm39)	missense	probably benign	0.38
R8000:Fads2b	UTSW	2	85,349,070 (GRCm39)	missense	probably benign	0.00
R8737:Fads2b	UTSW	2	85,324,387 (GRCm39)	intron	probably benign
R9182:Fads2b	UTSW	2	85,330,581 (GRCm39)	missense	probably benign	0.01
R9303:Fads2b	UTSW	2	85,330,649 (GRCm39)	nonsense	probably null
R9315:Fads2b	UTSW	2	85,319,188 (GRCm39)	missense	probably benign	0.06
R9319:Fads2b	UTSW	2	85,320,757 (GRCm39)	missense	probably damaging	1.00
X0021:Fads2b	UTSW	2	85,349,045 (GRCm39)	missense	probably benign	0.00
Z1088:Fads2b	UTSW	2	85,332,421 (GRCm39)	missense	probably benign	0.14
Z1088:Fads2b	UTSW	2	85,314,525 (GRCm39)	missense	probably damaging	1.00
Z1176:Fads2b	UTSW	2	85,348,806 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- TGCTGCTTTGAGTACATAAGCAAG -3'
(R):5'- TCTTTCTACTCCAACACAGAAGATG -3'

Sequencing Primer
(F):5'- CTTTGAGTACATAAGCAAGAAAAAGC -3'
(R):5'- TTTGAGGCAGGAAGAACCAGTTG -3'

Posted On

2022-03-25