Mutagenetix > Incidental Mutation

Incidental Mutation 'R7149:Gm1979'

553994

Institutional Source

Beutler Lab

Gene Symbol

Gm1979

Ensembl Gene

ENSMUSG00000091049

Gene Name

predicted gene 1979

Synonyms

Accession Numbers

Essential gene?

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

Stock #

R7149 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26204020-26209796 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26206945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 136 (N136S)

Ref Sequence

ENSEMBL: ENSMUSP00000130718 (fasta)

Gene Model

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

AlphaFold

E9QAN3

Predicted Effect

probably benign
Transcript: ENSMUST00000168875
AA Change: N136S

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000130718
Gene: ENSMUSG00000091049
AA Change: N136S

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
AA Change: N90S

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000130782
Gene: ENSMUSG00000091049
AA Change: N90S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	C	11: 100,375,451 (GRCm39)	F790V	probably damaging	Het
Atf4	AAGCGGGCTGAGC	AAGC	15: 80,141,500 (GRCm39)		probably benign	Het
Brd8	C	T	18: 34,737,650 (GRCm39)		probably null	Het
Bsn	A	T	9: 107,993,520 (GRCm39)	L744*	probably null	Het
Capn9	A	G	8: 125,332,448 (GRCm39)	D429G	probably benign	Het
CK137956	A	T	4: 127,864,626 (GRCm39)	M1K	probably null	Het
Cnot6	G	A	11: 49,570,970 (GRCm39)	P341S	probably benign	Het
Cracdl	G	A	1: 37,651,352 (GRCm39)	Q1172*	probably null	Het
Dld	T	G	12: 31,385,589 (GRCm39)	I251L	probably benign	Het
Dlg5	T	C	14: 24,240,492 (GRCm39)	K253R	probably benign	Het
Dnmt3a	C	T	12: 3,952,397 (GRCm39)	P696L	probably damaging	Het
Dph1	T	C	11: 75,070,001 (GRCm39)	K409E	probably benign	Het
Dsg2	T	C	18: 20,712,511 (GRCm39)	S172P	probably damaging	Het
Gm2663	A	T	6: 40,974,891 (GRCm39)	L60Q	probably damaging	Het
Hdac10	A	G	15: 89,011,652 (GRCm39)	F144S	probably damaging	Het
Ifi203	T	C	1: 173,756,494 (GRCm39)	T430A	unknown	Het
Itgb2l	T	C	16: 96,234,759 (GRCm39)	D244G	probably damaging	Het
Klk1b9	A	T	7: 43,628,841 (GRCm39)	Y115F	probably benign	Het
Llcfc1	C	A	6: 41,662,251 (GRCm39)	A85E	possibly damaging	Het
Lrp1b	C	T	2: 40,527,872 (GRCm39)	V4330M		Het
Map3k13	A	G	16: 21,744,187 (GRCm39)	E811G	probably benign	Het
Myl6b	A	G	10: 128,333,068 (GRCm39)		probably null	Het
Myo15a	G	A	11: 60,400,836 (GRCm39)	A2997T	possibly damaging	Het
Nalcn	T	C	14: 123,837,277 (GRCm39)	D29G	probably benign	Het
Nepro	T	A	16: 44,550,078 (GRCm39)		probably null	Het
Nlrp1b	T	A	11: 71,072,482 (GRCm39)	R454*	probably null	Het
Nlrp4a	T	C	7: 26,149,863 (GRCm39)	V490A	probably benign	Het
Or1e1f	G	A	11: 73,856,257 (GRCm39)	M274I	probably benign	Het
Or2l13	T	C	16: 19,306,260 (GRCm39)	V224A	probably damaging	Het
Pde8b	T	G	13: 95,223,349 (GRCm39)	M197L	probably benign	Het
Phldb2	T	A	16: 45,571,895 (GRCm39)	K1166*	probably null	Het
Plekhm1	A	G	11: 103,285,742 (GRCm39)	I231T	probably damaging	Het
Ppp6r2	T	C	15: 89,146,599 (GRCm39)	I199T	probably damaging	Het
Ptch1	G	T	13: 63,659,550 (GRCm39)	H1368N	probably benign	Het
Ptprj	T	A	2: 90,274,790 (GRCm39)	T1191S	possibly damaging	Het
Rapgef1	T	C	2: 29,610,712 (GRCm39)	S748P	probably damaging	Het
Rigi	T	C	4: 40,222,079 (GRCm39)	D445G	possibly damaging	Het
Rnmt	T	C	18: 68,452,222 (GRCm39)	S420P	probably damaging	Het
Sgms2	A	G	3: 131,129,908 (GRCm39)	F160S	possibly damaging	Het
Sim1	G	T	10: 50,785,636 (GRCm39)	R235L	probably damaging	Het
Slco1a7	A	G	6: 141,690,178 (GRCm39)	S192P	probably damaging	Het
Smarcad1	T	A	6: 65,029,716 (GRCm39)	D101E	probably benign	Het
Smarcc2	G	A	10: 128,318,598 (GRCm39)	V627M	probably damaging	Het
Supt20	G	A	3: 54,635,832 (GRCm39)	R241H	unknown	Het
Tagln2	T	A	1: 172,333,386 (GRCm39)	I80N	probably damaging	Het
Tmod2	G	A	9: 75,489,167 (GRCm39)	T226I	possibly damaging	Het
Vmn2r80	A	T	10: 79,030,654 (GRCm39)	I827F	probably benign	Het
Vmn2r96	T	A	17: 18,817,989 (GRCm39)	M714K	possibly damaging	Het
Vps8	C	A	16: 21,278,526 (GRCm39)	D261E	probably damaging	Het
Yeats2	C	A	16: 19,972,939 (GRCm39)	A31E	probably damaging	Het
Zfp451	C	T	1: 33,816,405 (GRCm39)	R515Q	probably damaging	Het
Zfp553	A	G	7: 126,835,605 (GRCm39)	S387G	possibly damaging	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
R4016:Gm1979	UTSW	5	26,209,604 (GRCm39)	nonsense	probably null
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
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'- GGCCTAGGAAAACTGAGTCC -3'
(R):5'- TAGAATGCAGAGTGTGGTTTCC -3'

Sequencing Primer
(F):5'- TGAGTCCAAAAGATCCAAGGC -3'
(R):5'- TTCCATGGCTGCAGTAGTCCAG -3'

Posted On

2019-05-15