Mutagenetix > Incidental Mutation

Incidental Mutation 'R4178:Gm10322'

319599

Institutional Source

Beutler Lab

Gene Symbol

Gm10322

Ensembl Gene

ENSMUSG00000071280

Gene Name

predicted gene 10322

Synonyms

MMRRC Submission

040864-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R4178 (G1)

Quality Score

225

Status

Not 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: 97.2%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Antxrl	A	G	14: 33,776,928 (GRCm39)		probably null	Het
Atp2b2	A	T	6: 113,770,679 (GRCm39)	V410E	probably damaging	Het
C6	G	A	15: 4,764,621 (GRCm39)	V106I	probably benign	Het
Cdhr1	A	C	14: 36,804,896 (GRCm39)		probably null	Het
Cfap44	T	A	16: 44,272,216 (GRCm39)	L1323Q	possibly damaging	Het
Ehd4	T	A	2: 119,984,829 (GRCm39)	Y43F	probably damaging	Het
Eno1	T	C	4: 150,328,490 (GRCm39)	I90T	possibly damaging	Het
Epb41l1	A	G	2: 156,363,477 (GRCm39)	Y662C	probably benign	Het
Fkbp14	A	G	6: 54,566,299 (GRCm39)	L103P	probably damaging	Het
Iqcd	C	A	5: 120,740,476 (GRCm39)	T269K	probably damaging	Het
Kat6b	T	A	14: 21,668,972 (GRCm39)	C249*	probably null	Het
Kcnab2	T	C	4: 152,489,058 (GRCm39)	R109G	probably null	Het
Obox7	A	G	7: 14,398,032 (GRCm39)	Q24R	probably damaging	Het
Obox7	C	A	7: 14,398,031 (GRCm39)	Q24K	probably damaging	Het
Or5p1	A	G	7: 107,916,565 (GRCm39)	N155D	probably damaging	Het
Or5p68	G	A	7: 107,945,765 (GRCm39)	T141I	probably benign	Het
Or8g18	A	C	9: 39,149,375 (GRCm39)	L115*	probably null	Het
Rasgrf2	C	T	13: 92,038,717 (GRCm39)	G1043D	probably damaging	Het
Slf1	A	G	13: 77,191,688 (GRCm39)	S1049P	probably damaging	Het
Smc1b	A	T	15: 85,004,848 (GRCm39)	F409I	possibly damaging	Het
Tab2	A	G	10: 7,795,123 (GRCm39)	V453A	probably damaging	Het
Ubr4	A	G	4: 139,120,725 (GRCm39)	Y338C	probably damaging	Het
Usp6nl	A	G	2: 6,445,787 (GRCm39)	E588G	probably benign	Het
Vcan	T	C	13: 89,873,666 (GRCm39)	R63G	probably damaging	Het
Zfp775	A	G	6: 48,590,187 (GRCm39)		probably null	Het
Zfpm2	T	C	15: 40,966,940 (GRCm39)	C1010R	probably 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
R4177: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'- GGATAAAGTTTGATTTTCCTCCCTGC -3'
(R):5'- TTCCAGTTGAGAGATGGCGG -3'

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

Posted On

2015-06-10