Mutagenetix > Incidental Mutation

Incidental Mutation 'R6171:Gm10322'

490448

Institutional Source

Beutler Lab

Gene Symbol

Gm10322

Ensembl Gene

ENSMUSG00000071280

Gene Name

predicted gene 10322

Synonyms

MMRRC Submission

044314-MU

Accession Numbers

Essential gene?

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

Stock #

R6171 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59451885-59453238 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59452084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 67 (V67A)

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

possibly damaging
Transcript: ENSMUST00000095646
AA Change: V67A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000093306
Gene: ENSMUSG00000071280
AA Change: V67A

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

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprs	A	G	4: 126,211,110 (GRCm39)	V269A	probably damaging	Het
Atp11a	T	A	8: 12,882,663 (GRCm39)	V517D	probably damaging	Het
Atr	C	T	9: 95,763,324 (GRCm39)	Q1073*	probably null	Het
C87436	A	C	6: 86,422,449 (GRCm39)	T8P	probably benign	Het
Clasrp	T	C	7: 19,318,747 (GRCm39)		probably benign	Het
Creb3l1	G	T	2: 91,821,614 (GRCm39)	Q254K	probably damaging	Het
Dapl1	C	A	2: 59,326,946 (GRCm39)	T64K	probably benign	Het
Dnah2	A	T	11: 69,313,868 (GRCm39)	L4168Q	probably damaging	Het
Dnttip2	T	A	3: 122,072,511 (GRCm39)	I597N	probably damaging	Het
Dyrk1b	A	T	7: 27,885,975 (GRCm39)		probably null	Het
Elk3	G	T	10: 93,085,906 (GRCm39)	P132Q	probably damaging	Het
Galt	C	T	4: 41,757,541 (GRCm39)	P238S	probably damaging	Het
Ice1	T	C	13: 70,754,850 (GRCm39)	Y412C	probably benign	Het
Kcna1	A	T	6: 126,619,286 (GRCm39)	Y345N	probably damaging	Het
Kif1b	T	C	4: 149,342,505 (GRCm39)	Y419C	probably damaging	Het
Klf15	G	T	6: 90,443,601 (GRCm39)	A59S	possibly damaging	Het
Mettl17	T	A	14: 52,126,236 (GRCm39)	Y162N	probably damaging	Het
Myh10	G	A	11: 68,682,716 (GRCm39)	R1050Q	probably damaging	Het
Nek4	T	C	14: 30,692,304 (GRCm39)	V376A	probably benign	Het
Nemp1	T	A	10: 127,525,319 (GRCm39)		probably null	Het
Nlrp9a	T	C	7: 26,258,188 (GRCm39)	I602T	possibly damaging	Het
Nphp4	T	C	4: 152,628,906 (GRCm39)	V764A	probably damaging	Het
Or12e1	T	A	2: 87,022,709 (GRCm39)	V226E	possibly damaging	Het
Or8c17	C	T	9: 38,179,898 (GRCm39)	Q22*	probably null	Het
Osbp2	A	T	11: 3,667,221 (GRCm39)		probably null	Het
Pax2	A	G	19: 44,779,179 (GRCm39)	Y185C	probably damaging	Het
Pdyn	A	T	2: 129,530,268 (GRCm39)	S134T	possibly damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Ppp1r13l	A	G	7: 19,111,436 (GRCm39)	M754V	probably benign	Het
Prr23a3	T	A	9: 98,747,731 (GRCm39)	N228K	probably benign	Het
Psmd12	T	C	11: 107,382,733 (GRCm39)	F213L	probably damaging	Het
Qser1	A	T	2: 104,619,628 (GRCm39)	S395T	probably damaging	Het
Rab7b	A	G	1: 131,626,372 (GRCm39)		probably null	Het
Rev3l	T	A	10: 39,738,709 (GRCm39)	L2821*	probably null	Het
Rplp0	A	G	5: 115,699,219 (GRCm39)	N127S	probably benign	Het
Serpina9	G	T	12: 103,974,678 (GRCm39)	Y158*	probably null	Het
Sis	G	A	3: 72,868,360 (GRCm39)	T110M	possibly damaging	Het
Slc43a2	A	G	11: 75,453,876 (GRCm39)	Y263C	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Stard13	A	T	5: 151,016,227 (GRCm39)	V88E	probably damaging	Het
Trim29	G	A	9: 43,230,674 (GRCm39)	E286K	probably damaging	Het
Vmn2r24	T	C	6: 123,764,205 (GRCm39)	S361P	probably damaging	Het
Wnk2	T	C	13: 49,214,308 (GRCm39)	T18A	probably damaging	Het
Xylb	C	T	9: 119,210,657 (GRCm39)	T380M	probably damaging	Het
Zbtb5	T	C	4: 44,994,119 (GRCm39)	T422A	probably benign	Het
Zhx2	A	G	15: 57,686,602 (GRCm39)	E657G	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
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
R9635:Gm10322	UTSW	10	59,451,931 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- ATAAAGTTTGATTTTCCTCCCTGCG -3'
(R):5'- CGTTTCCAGTTGAGAGATGGC -3'

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

Posted On

2017-10-10