Mutagenetix > Incidental Mutation

Incidental Mutation 'R1086:Got1l1'

85031

Institutional Source

Beutler Lab

Gene Symbol

Got1l1

Ensembl Gene

ENSMUSG00000039720

Gene Name

glutamic-oxaloacetic transaminase 1-like 1

Synonyms

1700083M11Rik

MMRRC Submission

039172-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R1086 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

27687487-27713856 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27688007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 341 (W341R)

Ref Sequence

ENSEMBL: ENSMUSP00000041337 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038174] [ENSMUST00000209299]

AlphaFold

Q7TSV6

Predicted Effect

probably damaging
Transcript: ENSMUST00000038174
AA Change: W341R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041337
Gene: ENSMUSG00000039720
AA Change: W341R

Domain	Start	End	E-Value	Type
Pfam:Aminotran_1_2	32	395	1.2e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209281

Predicted Effect

probably benign
Transcript: ENSMUST00000209299

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209699

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211002

Meta Mutation Damage Score

0.8950

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 94.4%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,334,220 (GRCm39)		probably benign	Het
Agbl4	G	C	4: 110,335,791 (GRCm39)		probably benign	Het
Ano6	T	C	15: 95,847,843 (GRCm39)		probably null	Het
B3gnt8	C	G	7: 25,327,736 (GRCm39)	N55K	probably damaging	Het
Brox	A	G	1: 183,064,052 (GRCm39)	Y252H	probably damaging	Het
Cfap100	T	A	6: 90,380,890 (GRCm39)	K605*	probably null	Het
Chd7	A	G	4: 8,866,458 (GRCm39)	T877A	probably benign	Het
Csmd3	T	A	15: 47,559,151 (GRCm39)	I2371F	probably damaging	Het
Cwc22	T	A	2: 77,754,824 (GRCm39)		probably benign	Het
Cyp2s1	A	T	7: 25,505,422 (GRCm39)	D347E	probably damaging	Het
Dab1	C	A	4: 104,185,769 (GRCm39)		probably benign	Het
Dis3l2	G	A	1: 86,917,871 (GRCm39)	D493N	probably benign	Het
Gps2	A	G	11: 69,806,050 (GRCm39)		probably benign	Het
Haus1	A	C	18: 77,854,553 (GRCm39)		probably benign	Het
Itgam	T	C	7: 127,679,436 (GRCm39)	S193P	probably damaging	Het
Itpr2	C	A	6: 146,251,543 (GRCm39)	A1034S	probably damaging	Het
Lrp5	T	C	19: 3,699,476 (GRCm39)	R270G	probably benign	Het
Ltbr	G	A	6: 125,289,703 (GRCm39)		probably benign	Het
Mdga2	T	C	12: 66,552,876 (GRCm39)		probably benign	Het
Mug1	T	A	6: 121,862,813 (GRCm39)	M1387K	probably damaging	Het
Nwd2	C	T	5: 63,963,917 (GRCm39)	S1167L	probably damaging	Het
Or5h19	T	A	16: 58,856,626 (GRCm39)	H158L	probably damaging	Het
Pfkm	T	C	15: 98,029,546 (GRCm39)	V719A	probably benign	Het
Ppfia3	C	G	7: 45,011,182 (GRCm39)	G16A	probably damaging	Het
Ppp2r3d	G	A	9: 101,031,021 (GRCm39)	T245I	possibly damaging	Het
Ptprd	T	C	4: 76,051,495 (GRCm39)	T256A	probably damaging	Het
Ptprg	C	T	14: 11,952,706 (GRCm38)		probably benign	Het
Rabgap1	T	C	2: 37,359,458 (GRCm39)	V7A	probably damaging	Het
Rnh1	T	G	7: 140,743,282 (GRCm39)	Q231P	probably benign	Het
Rwdd2b	C	T	16: 87,233,446 (GRCm39)		probably benign	Het
Saal1	T	C	7: 46,338,883 (GRCm39)		probably benign	Het
Sap130	G	A	18: 31,783,673 (GRCm39)		probably benign	Het
Serpina1d	T	G	12: 103,730,046 (GRCm39)	M379L	probably benign	Het
Skor2	A	C	18: 76,946,994 (GRCm39)	S239R	unknown	Het
Slc16a13	A	G	11: 70,109,850 (GRCm39)	L217P	probably damaging	Het
Slc18b1	T	C	10: 23,679,693 (GRCm39)	M74T	probably benign	Het
Speer4e2	T	C	5: 15,028,804 (GRCm39)	D29G	probably benign	Het
Tacc2	A	T	7: 130,228,227 (GRCm39)	E1637D	possibly damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tg	A	C	15: 66,555,911 (GRCm39)	I868L	probably benign	Het
Ttll5	G	A	12: 85,937,853 (GRCm39)	V395I	possibly damaging	Het
Uba6	C	A	5: 86,275,578 (GRCm39)	C739F	probably benign	Het
Unc5d	A	C	8: 29,365,658 (GRCm39)	V109G	possibly damaging	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp462	G	T	4: 55,013,000 (GRCm39)	K507N	probably damaging	Het

Other mutations in Got1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01392:Got1l1	APN	8	27,688,019 (GRCm39)	missense	probably damaging	1.00
IGL02094:Got1l1	APN	8	27,689,873 (GRCm39)	missense	probably benign	0.10
IGL03155:Got1l1	APN	8	27,689,360 (GRCm39)	missense	probably damaging	1.00
IGL03395:Got1l1	APN	8	27,690,885 (GRCm39)	missense	probably benign	0.00
R0026:Got1l1	UTSW	8	27,690,276 (GRCm39)	missense	probably benign	0.00
R1403:Got1l1	UTSW	8	27,690,745 (GRCm39)	splice site	probably null
R1403:Got1l1	UTSW	8	27,690,745 (GRCm39)	splice site	probably null
R2349:Got1l1	UTSW	8	27,687,959 (GRCm39)	missense	probably benign	0.09
R3413:Got1l1	UTSW	8	27,689,864 (GRCm39)	critical splice donor site	probably null
R4513:Got1l1	UTSW	8	27,688,513 (GRCm39)	missense	probably benign	0.27
R4514:Got1l1	UTSW	8	27,688,513 (GRCm39)	missense	probably benign	0.27
R5686:Got1l1	UTSW	8	27,688,087 (GRCm39)	missense	probably damaging	1.00
R5979:Got1l1	UTSW	8	27,687,951 (GRCm39)	splice site	probably null
R6023:Got1l1	UTSW	8	27,689,932 (GRCm39)	nonsense	probably null
R6229:Got1l1	UTSW	8	27,688,464 (GRCm39)	splice site	probably null
R7635:Got1l1	UTSW	8	27,687,962 (GRCm39)	missense	probably damaging	1.00
R8101:Got1l1	UTSW	8	27,690,330 (GRCm39)	missense	possibly damaging	0.68
R8104:Got1l1	UTSW	8	27,687,619 (GRCm39)	missense	probably damaging	1.00
R8298:Got1l1	UTSW	8	27,688,586 (GRCm39)	missense	probably benign	0.09
R8792:Got1l1	UTSW	8	27,690,749 (GRCm39)	critical splice donor site	probably null
R9089:Got1l1	UTSW	8	27,690,889 (GRCm39)	missense	probably damaging	1.00
R9526:Got1l1	UTSW	8	27,688,503 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- AGCAGCCCCACTTCTACAAGGATG -3'
(R):5'- AACCAGGTTCCAGCCGTGTGTTTC -3'

Sequencing Primer
(F):5'- TGTCAAGAGGAAATCCCGC -3'
(R):5'- AGCCGTGTGTTTCCTGAC -3'

Posted On

2013-11-18