Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03331:Gm1979'

416862

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm1979

Ensembl Gene

ENSMUSG00000091049

Gene Name

predicted gene 1979

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL03331

Quality Score

Status

Chromosome

Chromosomal Location

26204020-26209796 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26207008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 69 (K69R)

Ref Sequence

ENSEMBL: ENSMUSP00000130782 (fasta)

Gene Model

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

AlphaFold

E9QAN3

Predicted Effect

probably damaging
Transcript: ENSMUST00000168875
AA Change: K115R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130718
Gene: ENSMUSG00000091049
AA Change: K115R

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 damaging
Transcript: ENSMUST00000170224
AA Change: K69R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130782
Gene: ENSMUSG00000091049
AA Change: K69R

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	C	A	14: 78,751,305 (GRCm39)	D361Y	probably damaging	Het
Arhgap10	T	C	8: 78,146,711 (GRCm39)	N231S	probably damaging	Het
Asb15	A	T	6: 24,556,523 (GRCm39)	D6V	possibly damaging	Het
C1qb	G	A	4: 136,607,604 (GRCm39)	A253V	probably damaging	Het
Ccdc178	G	T	18: 21,944,640 (GRCm39)		probably null	Het
Chst15	A	G	7: 131,864,442 (GRCm39)	L387P	probably damaging	Het
Clca3b	T	A	3: 144,533,724 (GRCm39)	E550D	probably benign	Het
Dnah5	A	G	15: 28,420,086 (GRCm39)	K3795E	probably damaging	Het
Dppa2	T	C	16: 48,134,242 (GRCm39)		probably benign	Het
Epb41l5	T	C	1: 119,545,149 (GRCm39)	Y220C	probably damaging	Het
Fkbpl	C	T	17: 34,864,661 (GRCm39)	T143I	probably damaging	Het
Gbe1	T	G	16: 70,230,466 (GRCm39)	Y155D	probably damaging	Het
Gna14	G	A	19: 16,586,832 (GRCm39)	V336M	probably damaging	Het
Gpr37	A	G	6: 25,669,728 (GRCm39)	V372A	probably benign	Het
H2bc12	T	C	13: 22,220,443 (GRCm39)		probably benign	Het
Herc2	C	A	7: 55,785,015 (GRCm39)		probably benign	Het
Krt20	T	C	11: 99,326,256 (GRCm39)		probably null	Het
Lman1	T	C	18: 66,126,275 (GRCm39)	T284A	probably benign	Het
Matn2	A	T	15: 34,345,503 (GRCm39)	D170V	probably damaging	Het
Morc1	C	A	16: 48,432,731 (GRCm39)		probably benign	Het
Necap1	T	A	6: 122,857,376 (GRCm39)	S34T	probably benign	Het
Nt5c3b	T	C	11: 100,327,041 (GRCm39)	Y85C	probably damaging	Het
Or2t6	C	A	14: 14,176,017 (GRCm38)	A22S	probably benign	Het
Or5b102	T	A	19: 13,041,231 (GRCm39)	L152H	probably damaging	Het
Papln	A	G	12: 83,830,435 (GRCm39)	M1016V	probably benign	Het
Pld1	T	C	3: 28,139,994 (GRCm39)	F605L	probably damaging	Het
Rbms2	T	A	10: 127,969,504 (GRCm39)		probably benign	Het
Rps6kb1	A	T	11: 86,423,656 (GRCm39)	V108E	probably damaging	Het
Scap	T	C	9: 110,209,304 (GRCm39)		probably null	Het
Serpina1f	T	C	12: 103,657,150 (GRCm39)	I307M	probably benign	Het
Tchh	A	G	3: 93,350,725 (GRCm39)	D55G	probably damaging	Het
Tnfaip3	G	T	10: 18,887,349 (GRCm39)	Q59K	possibly damaging	Het
Vcan	A	G	13: 89,810,051 (GRCm39)	C2287R	probably damaging	Het
Vmn2r6	T	C	3: 64,445,428 (GRCm39)	N766D	probably damaging	Het

Other mutations in Gm1979

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2016-08-02