Mutagenetix > Incidental Mutation

Incidental Mutation 'R6485:Fads6'

517311

Institutional Source

Beutler Lab

Gene Symbol

Fads6

Ensembl Gene

ENSMUSG00000044788

Gene Name

fatty acid desaturase domain family, member 6

Synonyms

OTTMUSG00000021749, BC050213

MMRRC Submission

044617-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R6485 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115170448-115188489 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115176264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 187 (F187S)

Ref Sequence

ENSEMBL: ENSMUSP00000058783 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056153]

AlphaFold

Q80UG1

Predicted Effect

probably benign
Transcript: ENSMUST00000056153
AA Change: F187S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000058783
Gene: ENSMUSG00000044788
AA Change: F187S

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	N/A	INTRINSIC
Pfam:FA_desaturase	62	313	3.2e-14	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	C	A	7: 120,026,390 (GRCm39)	Y117*	probably null	Het
Acot5	A	T	12: 84,122,258 (GRCm39)	R281W	probably damaging	Het
Adamts20	T	C	15: 94,241,852 (GRCm39)	T719A	probably benign	Het
Arhgap33	T	C	7: 30,223,429 (GRCm39)	T867A	probably benign	Het
Bcl2a1c	T	C	9: 114,159,278 (GRCm39)	Y19H	probably benign	Het
Bod1l	A	G	5: 41,974,459 (GRCm39)	I2285T	possibly damaging	Het
Cacna2d1	A	G	5: 16,559,655 (GRCm39)	Y755C	probably damaging	Het
Cdc27	T	C	11: 104,396,474 (GRCm39)	T816A	probably benign	Het
Clasrp	C	A	7: 19,320,294 (GRCm39)		probably benign	Het
Col6a4	A	G	9: 105,954,069 (GRCm39)		probably null	Het
Cpd	T	C	11: 76,699,533 (GRCm39)		probably null	Het
Crispld2	A	G	8: 120,756,048 (GRCm39)	D339G	probably damaging	Het
Dst	A	G	1: 34,333,610 (GRCm39)	D7046G	probably damaging	Het
Erbin	G	T	13: 104,004,621 (GRCm39)	Q136K	probably damaging	Het
Exph5	G	A	9: 53,287,991 (GRCm39)	E1691K	possibly damaging	Het
Foxg1	A	T	12: 49,431,863 (GRCm39)	I199F	probably damaging	Het
Garem1	T	C	18: 21,262,894 (GRCm39)	D640G	probably benign	Het
Gba2	A	C	4: 43,574,118 (GRCm39)	Y112D	probably damaging	Het
Gcfc2	T	C	6: 81,916,528 (GRCm39)	I323T	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gria4	T	A	9: 4,464,249 (GRCm39)	Y571F	probably damaging	Het
Large2	T	C	2: 92,196,373 (GRCm39)	T485A	probably benign	Het
Lonrf1	A	G	8: 36,696,288 (GRCm39)		probably null	Het
Mrgprb5	T	C	7: 47,818,525 (GRCm39)	N70S	probably damaging	Het
Muc2	T	A	7: 141,300,473 (GRCm39)		probably benign	Het
Nol4	T	C	18: 22,903,850 (GRCm39)	D375G	probably damaging	Het
Or2b2	A	G	13: 21,887,600 (GRCm39)	Q143R	probably benign	Het
Pcnt	G	T	10: 76,225,164 (GRCm39)	S1780*	probably null	Het
Pdgfra	A	T	5: 75,335,735 (GRCm39)		probably null	Het
Pgd	A	T	4: 149,240,876 (GRCm39)		probably null	Het
Pla2g6	T	C	15: 79,191,572 (GRCm39)	I279V	probably benign	Het
Ptpn21	A	T	12: 98,665,131 (GRCm39)	C297*	probably null	Het
Ripply1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	TTCCTCCTCCTCCTCCTCCTCCTCCTCCT	X: 138,680,599 (GRCm39)		probably benign	Het
Rtcb	T	C	10: 85,793,508 (GRCm39)	I22V	probably benign	Het
Slc25a30	G	T	14: 76,012,447 (GRCm39)	A67E	probably damaging	Het
Stk11ip	T	C	1: 75,506,612 (GRCm39)	V605A	possibly damaging	Het
Ush1c	A	T	7: 45,858,534 (GRCm39)	S585T	probably benign	Het
Vps13a	T	C	19: 16,657,414 (GRCm39)	D1785G	probably damaging	Het
Zic5	T	A	14: 122,697,052 (GRCm39)	Y521F	unknown	Het

Other mutations in Fads6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Shoshone	UTSW	11	115,187,503 (GRCm39)	missense	probably benign
R0550:Fads6	UTSW	11	115,187,503 (GRCm39)	missense	probably benign
R1442:Fads6	UTSW	11	115,188,235 (GRCm39)	missense	probably benign	0.00
R2264:Fads6	UTSW	11	115,177,061 (GRCm39)	missense	probably damaging	1.00
R4928:Fads6	UTSW	11	115,187,387 (GRCm39)	missense	probably benign	0.01
R5090:Fads6	UTSW	11	115,187,480 (GRCm39)	missense	probably benign	0.29
R6472:Fads6	UTSW	11	115,176,962 (GRCm39)	missense	probably damaging	0.97
R7055:Fads6	UTSW	11	115,176,229 (GRCm39)	missense	probably benign
R7854:Fads6	UTSW	11	115,188,222 (GRCm39)	missense	probably benign	0.00
X0067:Fads6	UTSW	11	115,176,148 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAAACGTTGGGTCGAGCCTG -3'
(R):5'- ACCACAGATGACAGAGTGTGTG -3'

Sequencing Primer
(F):5'- TCGAGCCTGCTGTCAGAAC -3'
(R):5'- CTTTAGGGGGAATCAGTCAATCCC -3'

Posted On

2018-05-21