Mutagenetix > Incidental Mutation

Incidental Mutation 'R3902:Gatd1'

309236

Institutional Source

Beutler Lab

Gene Symbol

Gatd1

Ensembl Gene

ENSMUSG00000051007

Gene Name

glutamine amidotransferase like class 1 domain containing 1

Synonyms

Pddc1, D230016J19Rik

MMRRC Submission

040811-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R3902 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140988097-140994038 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140989014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 215 (L215P)

Ref Sequence

ENSEMBL: ENSMUSP00000101630 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106008]

AlphaFold

Q8BFQ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000106008
AA Change: L215P

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

SMART Domains

Protein: ENSMUSP00000101630
Gene: ENSMUSG00000051007
AA Change: L215P

Domain	Start	End	E-Value	Type
PDB:1U9C\|A	29	220	7e-10	PDB
SCOP:d1g2ia_	54	206	7e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140337

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142852

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156353

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209276

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atmin	A	G	8: 117,683,036 (GRCm39)	N232S	probably benign	Het
Brat1	A	C	5: 140,703,751 (GRCm39)	D668A	possibly damaging	Het
Eif2b3	C	T	4: 116,879,404 (GRCm39)	R15W	probably damaging	Het
Eprs1	G	A	1: 185,111,939 (GRCm39)		probably null	Het
F5	A	G	1: 164,003,798 (GRCm39)	T198A	probably benign	Het
Fbxl20	T	A	11: 97,987,861 (GRCm39)	T61S	probably benign	Het
Fry	A	G	5: 150,269,392 (GRCm39)	E211G	probably damaging	Het
Gys2	A	G	6: 142,418,526 (GRCm39)	M1T	probably null	Het
Hacd4	A	C	4: 88,355,738 (GRCm39)	I49R	probably damaging	Het
Jph3	G	T	8: 122,480,158 (GRCm39)	D279Y	possibly damaging	Het
Klhl26	T	C	8: 70,905,016 (GRCm39)	D217G	probably damaging	Het
Kmt2e	A	G	5: 23,706,640 (GRCm39)	N1401S	probably benign	Het
Mettl21a	C	T	1: 64,647,240 (GRCm39)	V106I	probably benign	Het
Mpdz	A	G	4: 81,225,353 (GRCm39)	V1427A	probably damaging	Het
Mug2	A	T	6: 122,052,526 (GRCm39)	D1024V	probably damaging	Het
Myl7	T	A	11: 5,848,430 (GRCm39)	K38M	probably damaging	Het
Myl7	T	G	11: 5,848,431 (GRCm39)	K38Q	probably damaging	Het
Myom2	T	C	8: 15,154,165 (GRCm39)	V701A	probably benign	Het
Nipbl	A	G	15: 8,379,730 (GRCm39)	S1021P	possibly damaging	Het
Optc	A	G	1: 133,825,701 (GRCm39)	M275T	probably benign	Het
Pclo	A	T	5: 14,762,536 (GRCm39)	T385S	probably benign	Het
Pdgfra	T	A	5: 75,353,169 (GRCm39)	N986K	probably benign	Het
Pira1	G	A	7: 3,740,276 (GRCm39)	T315I	probably damaging	Het
Plekhn1	T	A	4: 156,310,126 (GRCm39)	I63F	possibly damaging	Het
Pogk	C	T	1: 166,231,193 (GRCm39)	V45I	probably damaging	Het
Rassf1	A	G	9: 107,432,039 (GRCm39)	Y21C	probably damaging	Het
Slc12a1	A	T	2: 125,030,113 (GRCm39)	I562F	probably damaging	Het
Slc16a6	A	G	11: 109,349,387 (GRCm39)	S141P	probably damaging	Het
Sntn	T	C	14: 13,679,084 (GRCm38)	L86P	probably damaging	Het
Styx-ps	A	G	X: 67,865,253 (GRCm39)	M101V	probably benign	Het
Taar4	T	A	10: 23,836,913 (GRCm39)	N174K	probably damaging	Het
Trav12-3	G	T	14: 53,859,486 (GRCm39)	C44F	probably damaging	Het
Triml2	A	G	8: 43,643,397 (GRCm39)	R240G	probably benign	Het
Vmn1r3	A	G	4: 3,185,241 (GRCm39)	M22T	probably benign	Het
Vmn2r7	C	A	3: 64,626,937 (GRCm39)	Q26H	possibly damaging	Het
Vmn2r72	T	C	7: 85,398,943 (GRCm39)	D470G	possibly damaging	Het
Xpo6	A	G	7: 125,719,581 (GRCm39)	Y602H	probably damaging	Het
Zfp287	T	C	11: 62,603,028 (GRCm39)	T241A	probably benign	Het
Zfp386	A	G	12: 116,023,775 (GRCm39)	K498E	probably damaging	Het
Zzef1	T	C	11: 72,799,326 (GRCm39)	L2392P	probably damaging	Het

Other mutations in Gatd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02136:Gatd1	APN	7	140,988,873 (GRCm39)	makesense	probably null
IGL02880:Gatd1	APN	7	140,990,951 (GRCm39)	missense	possibly damaging	0.96
R1036:Gatd1	UTSW	7	140,989,045 (GRCm39)	missense	probably damaging	1.00
R1553:Gatd1	UTSW	7	140,989,806 (GRCm39)	missense	probably benign	0.06
R2966:Gatd1	UTSW	7	140,989,080 (GRCm39)	missense	probably damaging	1.00
R4719:Gatd1	UTSW	7	140,990,981 (GRCm39)	missense	probably benign	0.01
R4916:Gatd1	UTSW	7	140,989,010 (GRCm39)	nonsense	probably null
R5013:Gatd1	UTSW	7	140,988,861 (GRCm39)	utr 3 prime	probably benign
R5118:Gatd1	UTSW	7	140,986,719 (GRCm39)	unclassified	probably benign
R5538:Gatd1	UTSW	7	140,986,758 (GRCm39)	unclassified	probably benign
R7177:Gatd1	UTSW	7	140,990,947 (GRCm39)	missense	possibly damaging	0.94
R7975:Gatd1	UTSW	7	140,989,781 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GAGACCATGGTGAGTTCAGTC -3'
(R):5'- TAGATGGGCGAGGCTACTTG -3'

Sequencing Primer
(F):5'- ACCATGGTGAGTTCAGTCCTTGTC -3'
(R):5'- AGGCTACTTGCTGTGTGTTCAC -3'

Posted On

2015-04-17