Mutagenetix > Incidental Mutation

Incidental Mutation 'R4016:Gm1979'

359701

Institutional Source

Beutler Lab

Gene Symbol

Gm1979

Ensembl Gene

ENSMUSG00000091049

Gene Name

predicted gene 1979

Synonyms

MMRRC Submission

040847-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R4016 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

26204020-26209796 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 26209604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 41 (W41*)

Ref Sequence

ENSEMBL: ENSMUSP00000130718 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168875] [ENSMUST00000170224]

AlphaFold

E9QAN3

Predicted Effect

probably null
Transcript: ENSMUST00000168875
AA Change: W41*

SMART Domains

Protein: ENSMUSP00000130718
Gene: ENSMUSG00000091049
AA Change: W41*

Domain	Start	End	E-Value	Type
Pfam:Takusan	50	134	1e-25	PFAM
low complexity region	154	168	N/A	INTRINSIC
low complexity region	235	259	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170224

SMART Domains

Protein: ENSMUSP00000130782
Gene: ENSMUSG00000091049

Domain	Start	End	E-Value	Type
Pfam:Takusan	3	89	1.1e-17	PFAM
low complexity region	108	122	N/A	INTRINSIC
low complexity region	189	213	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170449

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.4%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh8a1	G	A	10: 21,271,470 (GRCm39)	V399I	probably benign	Het
Apold1	A	G	6: 134,960,869 (GRCm39)	I108V	probably benign	Het
Arpc5	G	A	1: 152,644,607 (GRCm39)		probably benign	Het
Capn11	T	A	17: 45,964,682 (GRCm39)	D45V	probably damaging	Het
Dctpp1	G	A	7: 126,856,285 (GRCm39)	R146C	probably damaging	Het
Dlat	C	T	9: 50,560,931 (GRCm39)		probably null	Het
Dock10	T	A	1: 80,584,286 (GRCm39)	D140V	probably damaging	Het
Dtx3	A	G	10: 127,027,040 (GRCm39)	V378A	probably benign	Het
Ezh2	A	G	6: 47,521,516 (GRCm39)	I414T	probably benign	Het
Igf2bp2	T	C	16: 21,882,426 (GRCm39)	N425S	probably damaging	Het
Kdm5a	T	A	6: 120,371,067 (GRCm39)	Y504N	probably damaging	Het
Map3k21	T	A	8: 126,637,924 (GRCm39)	I170N	probably damaging	Het
Mrgpra6	C	A	7: 46,838,463 (GRCm39)	C245F	possibly damaging	Het
Nipal2	T	G	15: 34,600,207 (GRCm39)	K203N	possibly damaging	Het
Nlrp1b	A	G	11: 71,063,911 (GRCm39)	F621S	probably damaging	Het
Nos3	G	A	5: 24,576,714 (GRCm39)	V448M	probably damaging	Het
Ntrk3	G	T	7: 78,112,695 (GRCm39)		probably benign	Het
Or5b118	A	T	19: 13,448,561 (GRCm39)	T76S	possibly damaging	Het
P2rx1	T	C	11: 72,900,799 (GRCm39)	C190R	probably damaging	Het
Pdzrn4	T	A	15: 92,297,630 (GRCm39)	D198E	probably benign	Het
Ptar1	A	G	19: 23,664,824 (GRCm39)	M1V	probably null	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Purg	T	A	8: 33,877,019 (GRCm39)	L219*	probably null	Het
Rbp3	G	T	14: 33,677,347 (GRCm39)	V432L	possibly damaging	Het
Scnn1b	G	T	7: 121,513,555 (GRCm39)		probably null	Het
Sgms1	A	G	19: 32,120,192 (GRCm39)	V238A	possibly damaging	Het
Slc16a14	G	T	1: 84,890,228 (GRCm39)	S359*	probably null	Het
Smarca2	G	A	19: 26,661,327 (GRCm39)		probably null	Het
Spatc1l	A	G	10: 76,398,323 (GRCm39)	S42G	probably benign	Het
Stra6	T	A	9: 58,042,473 (GRCm39)	V34E	probably damaging	Het
Tex14	A	G	11: 87,429,449 (GRCm39)		probably null	Het
Tox4	T	C	14: 52,523,361 (GRCm39)		probably null	Het
Tyr	A	G	7: 87,087,148 (GRCm39)	S455P	probably benign	Het
Uggt2	T	C	14: 119,263,845 (GRCm39)	N1062D	possibly damaging	Het
Umod	A	C	7: 119,075,913 (GRCm39)	N284K	possibly damaging	Het
Unc93b1	T	C	19: 3,993,572 (GRCm39)	I338T	probably damaging	Het
Vmn2r99	C	T	17: 19,598,832 (GRCm39)	T172I	possibly damaging	Het
Whrn	G	A	4: 63,333,876 (GRCm39)	Q415*	probably null	Het

Other mutations in Gm1979

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03331:Gm1979	APN	5	26,207,008 (GRCm39)	missense	probably damaging	0.99
R1826:Gm1979	UTSW	5	26,206,240 (GRCm39)	missense	probably damaging	0.99
R4239:Gm1979	UTSW	5	26,206,119 (GRCm39)	missense	probably benign	0.05
R4240:Gm1979	UTSW	5	26,206,119 (GRCm39)	missense	probably benign	0.05
R6135:Gm1979	UTSW	5	26,205,298 (GRCm39)	missense	probably damaging	0.99
R6608:Gm1979	UTSW	5	26,206,094 (GRCm39)	missense	probably benign	0.00
R6936:Gm1979	UTSW	5	26,207,028 (GRCm39)	missense	probably benign	0.26
R7149:Gm1979	UTSW	5	26,206,945 (GRCm39)	missense	probably benign	0.06
R7699:Gm1979	UTSW	5	26,205,178 (GRCm39)	missense	probably damaging	0.98
R7700:Gm1979	UTSW	5	26,205,178 (GRCm39)	missense	probably damaging	0.98
R8298:Gm1979	UTSW	5	26,206,148 (GRCm39)	missense	probably damaging	0.97
R9055:Gm1979	UTSW	5	26,207,032 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGCTTTGACCTTGCCAACG -3'
(R):5'- CCTTCGTGATGTCACCAGTG -3'

Sequencing Primer
(F):5'- TGCCAACGCCTGCCTTAG -3'
(R):5'- ATGTCACCAGTGTTGTAGTGAC -3'

Posted On

2015-12-01