Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01118:Gm9839'

50302

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm9839

Ensembl Gene

ENSMUSG00000102865

Gene Name

predicted gene 9839

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.333) question?

Stock #

IGL01118

Quality Score

Status

Chromosome

Chromosomal Location

32558644-32560080 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32558924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 386 (M386K)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027226]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027226

SMART Domains

Protein: ENSMUSP00000027226
Gene: ENSMUSG00000026058

Domain	Start	End	E-Value	Type
low complexity region	41	48	N/A	INTRINSIC
KH	58	156	4.93e-7	SMART
low complexity region	185	197	N/A	INTRINSIC
low complexity region	204	231	N/A	INTRINSIC
Pfam:Sam68-YY	267	321	1.3e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000050429
AA Change: M386K

PolyPhen 2 Score 0.150 (Sensitivity: 0.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000085635
Gene: ENSMUSG00000049830
AA Change: M386K

Domain	Start	End	E-Value	Type
low complexity region	137	150	N/A	INTRINSIC
Pfam:Peptidase_C48	298	477	1.1e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195252

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	T	3: 124,195,058 (GRCm39)	R539Q	probably benign	Het
Abcb1a	G	A	5: 8,724,687 (GRCm39)	R40H	probably damaging	Het
Acan	T	A	7: 78,748,401 (GRCm39)	S1057R	possibly damaging	Het
Ahnak	A	T	19: 8,989,942 (GRCm39)	D3742V	probably damaging	Het
Amdhd1	A	T	10: 93,367,430 (GRCm39)	D241E	probably benign	Het
Cntn5	T	C	9: 9,831,565 (GRCm39)	Y605C	possibly damaging	Het
Dnmt3l	T	C	10: 77,893,120 (GRCm39)	F299S	probably damaging	Het
Eif1ad19	T	A	12: 87,740,212 (GRCm39)	N116Y	probably damaging	Het
Ess2	A	T	16: 17,720,796 (GRCm39)	I350N	probably damaging	Het
G6pd2	A	T	5: 61,967,406 (GRCm39)	M394L	probably benign	Het
Gtf2h3	T	C	5: 124,733,731 (GRCm39)	V268A	probably damaging	Het
Hgs	T	C	11: 120,366,040 (GRCm39)	V195A	probably damaging	Het
Igkv3-2	A	T	6: 70,675,978 (GRCm39)	S96C	probably damaging	Het
Mgl2	A	G	11: 70,025,015 (GRCm39)	E12G	probably benign	Het
Mup11	A	T	4: 60,615,779 (GRCm39)	F153I	probably damaging	Het
Nf1	T	A	11: 79,437,812 (GRCm39)	C2057S	probably damaging	Het
Nkrf	A	G	X: 36,152,410 (GRCm39)	F624S	probably damaging	Het
Noto	T	C	6: 85,401,192 (GRCm39)	S74P	probably benign	Het
Or8k40	A	G	2: 86,584,314 (GRCm39)	I256T	probably benign	Het
Pax8	T	C	2: 24,332,944 (GRCm39)		probably benign	Het
Psg28	A	T	7: 18,162,017 (GRCm39)	V162D	probably damaging	Het
Rai1	T	C	11: 60,078,264 (GRCm39)	F776S	probably damaging	Het
Taar8a	A	T	10: 23,952,759 (GRCm39)	H121L	probably damaging	Het
Tas2r113	A	G	6: 132,870,278 (GRCm39)	N102S	probably benign	Het
Trpm1	A	G	7: 63,885,572 (GRCm39)	T863A	probably benign	Het
Ttf2	A	G	3: 100,874,413 (GRCm39)		probably benign	Het
Wdr62	T	C	7: 29,942,206 (GRCm39)	H611R	probably damaging	Het
Wdr90	A	T	17: 26,073,661 (GRCm39)	L762Q	probably damaging	Het
Yeats2	T	G	16: 20,005,054 (GRCm39)	S364A	probably damaging	Het
Zdhhc15	G	T	X: 103,641,712 (GRCm39)	Q82K	probably benign	Het

Other mutations in Gm9839

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01096:Gm9839	APN	1	32,559,917 (GRCm39)	missense	possibly damaging	0.85
IGL01467:Gm9839	APN	1	32,559,032 (GRCm39)	missense	probably damaging	1.00
IGL02422:Gm9839	APN	1	32,558,943 (GRCm39)	intron	probably benign
IGL02450:Gm9839	APN	1	32,559,964 (GRCm39)	intron	probably benign
R1467:Gm9839	UTSW	1	32,559,594 (GRCm39)	nonsense	probably null

Posted On

2013-06-21