Mutagenetix > Incidental Mutation

Incidental Mutation 'R4177:Gm10322'

319564

Institutional Source

Beutler Lab

Gene Symbol

Gm10322

Ensembl Gene

ENSMUSG00000071280

Gene Name

predicted gene 10322

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

R4177 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59451885-59453238 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 59452052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 56 (N56K)

Ref Sequence

ENSEMBL: ENSMUSP00000093306 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020312] [ENSMUST00000095646] [ENSMUST00000161435]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020312

SMART Domains

Protein: ENSMUSP00000020312
Gene: ENSMUSG00000009647

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	66	77	N/A	INTRINSIC
Pfam:MCU	114	319	3.5e-78	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000095646
AA Change: N56K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000093306
Gene: ENSMUSG00000071280
AA Change: N56K

Domain	Start	End	E-Value	Type
low complexity region	18	31	N/A	INTRINSIC
low complexity region	55	74	N/A	INTRINSIC
low complexity region	88	111	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161168

Predicted Effect

probably benign
Transcript: ENSMUST00000161435

SMART Domains

Protein: ENSMUSP00000124087
Gene: ENSMUSG00000009647

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162012

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aicda	A	T	6: 122,538,043 (GRCm39)	D67V	probably benign	Het
Arhgap32	A	G	9: 32,158,510 (GRCm39)	R182G	probably null	Het
Bbx	T	C	16: 50,045,221 (GRCm39)	K447E	probably damaging	Het
Bscl2	A	G	19: 8,817,120 (GRCm39)	D16G	possibly damaging	Het
Celsr2	A	G	3: 108,321,294 (GRCm39)	V506A	probably damaging	Het
Cenpf	T	A	1: 189,400,816 (GRCm39)	Q441L	possibly damaging	Het
Crebbp	A	T	16: 3,937,663 (GRCm39)	M700K	possibly damaging	Het
Dhcr7	A	G	7: 143,394,910 (GRCm39)	Y142C	probably damaging	Het
Dnajc2	A	G	5: 21,962,394 (GRCm39)	M602T	probably benign	Het
Dysf	C	T	6: 84,044,013 (GRCm39)	R254*	probably null	Het
Ednra	A	C	8: 78,401,677 (GRCm39)	I204M	possibly damaging	Het
Fabp2	A	G	3: 122,690,547 (GRCm39)	T77A	possibly damaging	Het
Gnb1	T	C	4: 155,625,113 (GRCm39)		probably benign	Het
Gpc2	T	C	5: 138,275,621 (GRCm39)		probably benign	Het
Kmt2a	T	C	9: 44,732,280 (GRCm39)		probably benign	Het
Lypla2	T	C	4: 135,696,403 (GRCm39)		probably benign	Het
Maf	A	T	8: 116,433,210 (GRCm39)	Y131*	probably null	Het
Mfsd4a	T	A	1: 131,968,295 (GRCm39)	H335L	probably damaging	Het
Mrgpra9	A	G	7: 46,885,302 (GRCm39)	Y122H	probably damaging	Het
Myo10	A	T	15: 25,734,137 (GRCm39)	Q342L	possibly damaging	Het
N4bp2	A	G	5: 65,955,513 (GRCm39)		probably null	Het
Or5t15	A	T	2: 86,681,745 (GRCm39)	M99K	possibly damaging	Het
Pomt1	A	G	2: 32,138,689 (GRCm39)	N435S	probably damaging	Het
Pram1	A	G	17: 33,860,203 (GRCm39)	I257V	probably benign	Het
Rab9	G	T	X: 165,241,296 (GRCm39)	S5*	probably null	Het
Ralgapa2	A	T	2: 146,327,083 (GRCm39)	Y59N	probably damaging	Het
Rasgrf2	C	T	13: 92,038,717 (GRCm39)	G1043D	probably damaging	Het
Rps6kc1	G	A	1: 190,532,616 (GRCm39)	T462M	possibly damaging	Het
Selenoo	C	T	15: 88,983,662 (GRCm39)		probably benign	Het
Sptb	G	C	12: 76,659,953 (GRCm39)	D982E	probably benign	Het
Tab2	A	G	10: 7,795,123 (GRCm39)	V453A	probably damaging	Het
Ubald1	A	G	16: 4,693,745 (GRCm39)		probably benign	Het
Ube2d1	T	C	10: 71,094,033 (GRCm39)	K101R	probably damaging	Het
Unc5cl	A	G	17: 48,769,298 (GRCm39)	T261A	probably benign	Het
Zcwpw1	G	T	5: 137,798,395 (GRCm39)	K197N	probably damaging	Het
Zfp268	T	C	4: 145,347,225 (GRCm39)	L43S	probably damaging	Het
Zfyve19	A	G	2: 119,046,693 (GRCm39)	T296A	possibly damaging	Het

Other mutations in Gm10322

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0432:Gm10322	UTSW	10	59,452,030 (GRCm39)	missense	possibly damaging	0.66
R3709:Gm10322	UTSW	10	59,451,941 (GRCm39)	missense	possibly damaging	0.81
R4178:Gm10322	UTSW	10	59,452,052 (GRCm39)	missense	probably benign	0.00
R5082:Gm10322	UTSW	10	59,452,090 (GRCm39)	missense	possibly damaging	0.92
R5888:Gm10322	UTSW	10	59,452,125 (GRCm39)	missense	probably benign	0.27
R6171:Gm10322	UTSW	10	59,452,084 (GRCm39)	missense	possibly damaging	0.46
R9635:Gm10322	UTSW	10	59,451,931 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- GATAAAGTTTGATTTTCCTCCCTGCG -3'
(R):5'- TTCCAGTTGAGAGATGGCGG -3'

Sequencing Primer
(F):5'- TCCCTGCGTGTTCCTAGGG -3'
(R):5'- AGGTAGATCGCTCCTGCTG -3'

Posted On

2015-06-10