Mutagenetix > Incidental Mutation

Incidental Mutation 'R6717:Gm13119'

529422

Institutional Source

Beutler Lab

Gene Symbol

Gm13119

Ensembl Gene

ENSMUSG00000070619

Gene Name

predicted gene 13119

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6717 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144357942-144364419 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 144362657 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 182 (V182L)

Ref Sequence

ENSEMBL: ENSMUSP00000092103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094526]

AlphaFold

B1ARV5

Predicted Effect

probably benign
Transcript: ENSMUST00000094526
AA Change: V182L

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

SMART Domains

Protein: ENSMUSP00000092103
Gene: ENSMUSG00000070619
AA Change: V182L

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	210	414	3e-10	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	C	T	5: 4,064,086	L3122F	probably damaging	Het
Atp6v1b1	A	T	6: 83,753,650		probably null	Het
Ccdc178	A	T	18: 22,020,889	V621E	probably damaging	Het
Cfap126	T	C	1: 171,114,102		probably null	Het
Cog2	T	C	8: 124,525,749	I64T	probably damaging	Het
Dhx9	A	C	1: 153,473,464		probably null	Het
Efcab7	A	G	4: 99,904,734	D407G	possibly damaging	Het
Eif2b5	G	T	16: 20,505,283	G459C	probably damaging	Het
Eml5	T	C	12: 98,827,506	E1168G	probably damaging	Het
Flnc	AGCTGTCAAGTATGCTG	AGCTG	6: 29,450,902		probably benign	Het
Fry	A	G	5: 150,496,312	T980A	probably benign	Het
Gabbr2	A	G	4: 46,787,574	V363A	possibly damaging	Het
Ggt6	T	A	11: 72,437,520	L244*	probably null	Het
Gprc6a	T	A	10: 51,615,137	I768F	probably damaging	Het
Grk1	G	A	8: 13,416,237	M560I	probably benign	Het
Hapln4	G	A	8: 70,085,090	E145K	probably damaging	Het
Hoxd9	C	T	2: 74,698,389	P112S	probably benign	Het
Ly6g6f	T	A	17: 35,085,574	M1L	probably benign	Het
Mast1	T	C	8: 84,917,754	T849A	probably benign	Het
Mob4	A	T	1: 55,136,713	M39L	possibly damaging	Het
Mrgpre	A	T	7: 143,781,523	L81Q	probably damaging	Het
Mst1	T	C	9: 108,080,575		probably null	Het
Muc5b	A	T	7: 141,857,822	R1502*	probably null	Het
Olfr1020	T	A	2: 85,850,223	I257N	probably damaging	Het
Olfr142	T	A	2: 90,252,524	I155L	probably benign	Het
Olfr311	T	C	11: 58,841,287	Y58H	probably damaging	Het
Pdc	A	G	1: 150,333,018	D84G	probably damaging	Het
Peak1	T	C	9: 56,207,239	N443D	probably benign	Het
Pkd1l3	T	A	8: 109,614,769	W85R	unknown	Het
Rfc1	G	A	5: 65,302,004	Q190*	probably null	Het
Rfc1	A	G	5: 65,312,961	S68P	probably damaging	Het
Rnf145	T	C	11: 44,561,490	V432A	probably benign	Het
Ror2	A	G	13: 53,118,982	S204P	probably damaging	Het
Scn1a	T	C	2: 66,332,287	E205G	probably damaging	Het
Slc2a8	A	C	2: 32,976,177	M277R	probably damaging	Het
Slc4a1	T	C	11: 102,354,423	Y566C	probably damaging	Het
Slc6a12	A	G	6: 121,354,303	N185S	probably benign	Het
Srcap	GCTCCTCCTCCTCCTCCT	GCTCCTCCTCCTCCT	7: 127,558,310		probably benign	Het
Stk33	T	A	7: 109,327,616	T279S	possibly damaging	Het
Taok3	A	G	5: 117,240,950		probably benign	Het
Tlr11	A	G	14: 50,362,104	T516A	probably benign	Het
Tmem132c	T	A	5: 127,564,029	L1088Q	possibly damaging	Het
Tmem132d	T	A	5: 127,784,421	M879L	probably benign	Het
Tnk2	A	G	16: 32,670,869	E322G	probably damaging	Het
Ttc28	T	C	5: 111,285,436	V2081A	probably benign	Het
Ttn	C	T	2: 76,794,409		probably null	Het
Zfp105	T	C	9: 122,930,308	V348A	possibly damaging	Het
Zswim2	T	C	2: 83,915,409	R562G	probably benign	Het

Other mutations in Gm13119

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Gm13119	APN	4	144362530	missense	possibly damaging	0.91
IGL00485:Gm13119	APN	4	144363442	missense	probably damaging	0.99
IGL01025:Gm13119	APN	4	144363377	missense	probably damaging	1.00
IGL01102:Gm13119	APN	4	144363625	missense	probably benign	0.08
IGL01631:Gm13119	APN	4	144362445	missense	probably benign	0.12
IGL02228:Gm13119	APN	4	144362661	missense	probably damaging	1.00
IGL02708:Gm13119	APN	4	144363413	missense	probably damaging	1.00
IGL02827:Gm13119	APN	4	144363761	missense	probably damaging	1.00
IGL03398:Gm13119	APN	4	144363491	missense	probably damaging	1.00
R0403:Gm13119	UTSW	4	144362646	missense	probably benign	0.00
R0627:Gm13119	UTSW	4	144362846	missense	probably benign	0.03
R0632:Gm13119	UTSW	4	144363782	missense	probably damaging	1.00
R1783:Gm13119	UTSW	4	144361725	missense	probably benign	0.01
R1895:Gm13119	UTSW	4	144361865	missense	probably benign	0.11
R1946:Gm13119	UTSW	4	144361865	missense	probably benign	0.11
R2263:Gm13119	UTSW	4	144363541	missense	probably benign	0.00
R2389:Gm13119	UTSW	4	144363413	missense	probably damaging	1.00
R2435:Gm13119	UTSW	4	144362903	missense	possibly damaging	0.75
R3013:Gm13119	UTSW	4	144362455	missense	probably damaging	0.98
R3021:Gm13119	UTSW	4	144361799	missense	probably damaging	0.99
R3106:Gm13119	UTSW	4	144361676	missense	probably benign	0.04
R5237:Gm13119	UTSW	4	144362471	nonsense	probably null
R5411:Gm13119	UTSW	4	144361637	start codon destroyed	probably null	1.00
R5532:Gm13119	UTSW	4	144363491	missense	probably damaging	1.00
R6229:Gm13119	UTSW	4	144363629	missense	probably benign	0.03
R6277:Gm13119	UTSW	4	144363653	missense	probably damaging	1.00
R6625:Gm13119	UTSW	4	144363799	missense	probably damaging	1.00
R7103:Gm13119	UTSW	4	144363727	missense	probably benign	0.00
R7207:Gm13119	UTSW	4	144361903	missense	probably benign	0.08
R8934:Gm13119	UTSW	4	144363775	missense	possibly damaging	0.54
R9325:Gm13119	UTSW	4	144362523	missense	probably benign
R9411:Gm13119	UTSW	4	144363427	missense	probably benign	0.00
Z1177:Gm13119	UTSW	4	144362973	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TGTTTCAGCTGGACCAGAGG -3'
(R):5'- AAAAGTGAAGAGTTTCTCGTGGAC -3'

Sequencing Primer
(F):5'- TTTCAGCTGGACCAGAGGATGAAG -3'
(R):5'- ACTAGTGTTAGATGGAGTTTACGAAG -3'

Posted On

2018-08-01