Mutagenetix > Incidental Mutation

Incidental Mutation 'R3413:Got1l1'

267809

Institutional Source

Beutler Lab

Gene Symbol

Got1l1

Ensembl Gene

ENSMUSG00000039720

Gene Name

glutamic-oxaloacetic transaminase 1-like 1

Synonyms

1700083M11Rik

MMRRC Submission

040631-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R3413 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27687487-27713856 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 27689864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000041337 (fasta)

Gene Model

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

AlphaFold

Q7TSV6

Predicted Effect

probably null
Transcript: ENSMUST00000038174

SMART Domains

Protein: ENSMUSP00000041337
Gene: ENSMUSG00000039720

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

0.9493

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	T	C	8: 10,037,387 (GRCm39)		probably benign	Het
Ap2a2	T	A	7: 141,178,689 (GRCm39)	N105K	probably benign	Het
Axin1	A	G	17: 26,407,012 (GRCm39)	H535R	probably damaging	Het
Ccnb3	T	A	X: 6,874,040 (GRCm39)	E846D	probably benign	Het
Cdca7	G	A	2: 72,315,631 (GRCm39)	G365R	probably damaging	Het
Clvs2	T	A	10: 33,498,967 (GRCm39)		probably benign	Het
Coq10a	A	G	10: 128,200,998 (GRCm39)	V93A	possibly damaging	Het
Ddx42	A	G	11: 106,138,636 (GRCm39)	T812A	probably benign	Het
Dnaaf6	T	A	X: 139,006,770 (GRCm39)	N216K	possibly damaging	Het
Eya1	T	A	1: 14,344,433 (GRCm39)		probably null	Het
Fcna	G	C	2: 25,517,505 (GRCm39)	P49A	probably damaging	Het
Gckr	T	A	5: 31,458,211 (GRCm39)		probably null	Het
Golgb1	A	G	16: 36,707,709 (GRCm39)	K68E	probably damaging	Het
Hip1	T	C	5: 135,451,026 (GRCm39)	E451G	probably damaging	Het
Hs6st2	C	T	X: 50,770,332 (GRCm39)	V50I	possibly damaging	Het
Ighv1-23	C	T	12: 114,728,087 (GRCm39)	V112I	probably benign	Het
Map1s	A	G	8: 71,365,163 (GRCm39)	N107D	probably damaging	Het
Mmel1	T	A	4: 154,974,043 (GRCm39)	V361D	probably damaging	Het
Myh15	A	G	16: 48,959,095 (GRCm39)	D989G	probably benign	Het
Myo1g	G	T	11: 6,467,870 (GRCm39)	H188Q	possibly damaging	Het
Nup210	G	T	6: 91,002,224 (GRCm39)	Q755K	probably benign	Het
Or14j3	A	G	17: 37,900,587 (GRCm39)	V219A	probably benign	Het
Or51q1c	A	G	7: 103,653,039 (GRCm39)	M186V	probably damaging	Het
Plcz1	C	T	6: 139,947,807 (GRCm39)	R525Q	probably damaging	Het
Ppef2	T	G	5: 92,376,581 (GRCm39)	S649R	probably damaging	Het
Rusc2	T	G	4: 43,415,935 (GRCm39)	S414A	probably damaging	Het
Sez6l	A	G	5: 112,623,227 (GRCm39)	L108P	possibly damaging	Het
Slc1a7	A	G	4: 107,868,191 (GRCm39)	E497G	probably benign	Het
Spag8	T	A	4: 43,651,606 (GRCm39)	S423C	probably damaging	Het
Sspo	C	T	6: 48,457,631 (GRCm39)	R3178C	probably damaging	Het
St6galnac1	A	G	11: 116,656,682 (GRCm39)	W486R	probably damaging	Het
Syk	A	G	13: 52,785,775 (GRCm39)	D327G	probably benign	Het
Tbc1d8b	C	T	X: 138,614,140 (GRCm39)	A391V	probably benign	Het
Tmed9	A	G	13: 55,743,387 (GRCm39)	E173G	probably benign	Het
Top1mt	T	C	15: 75,529,025 (GRCm39)	N573S	probably benign	Het
Tusc1	C	A	4: 93,223,173 (GRCm39)	R162L	probably damaging	Het
Ubn2	A	G	6: 38,475,674 (GRCm39)	T1211A	probably benign	Het
Unc80	G	A	1: 66,678,464 (GRCm39)	V2082I	probably benign	Het
Vmn2r63	A	G	7: 42,576,406 (GRCm39)	F469S	probably benign	Het
Zfp92	C	T	X: 72,463,900 (GRCm39)		probably benign	Het
Zfyve28	C	T	5: 34,357,028 (GRCm39)	M723I	probably benign	Het
Zmynd8	A	T	2: 165,657,371 (GRCm39)	M533K	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
R1086:Got1l1	UTSW	8	27,688,007 (GRCm39)	missense	probably damaging	1.00
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
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'- ACCGGACATTTAGGGTGGAG -3'
(R):5'- ATATGTCAATGATCCTCACCCC -3'

Sequencing Primer
(F):5'- ACATTTAGGGTGGAGACAATCTC -3'
(R):5'- TTCCCCAGACCCCAGCTG -3'

Posted On

2015-02-18