Mutagenetix > Incidental Mutation

Incidental Mutation 'R2163:Gadl1'

235290

Institutional Source

Beutler Lab

Gene Symbol

Gadl1

Ensembl Gene

ENSMUSG00000056880

Gene Name

glutamate decarboxylase-like 1

Synonyms

1110027M19Rik

MMRRC Submission

040166-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R2163 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115713947-115905243 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115778626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 180 (I180N)

Ref Sequence

ENSEMBL: ENSMUSP00000113240 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069651] [ENSMUST00000119291] [ENSMUST00000121770]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069651
AA Change: I180N

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077694
Gene: ENSMUSG00000056880
AA Change: I180N

Domain	Start	End	E-Value	Type
Pfam:Pyridoxal_deC	58	426	1.1e-113	PFAM
Pfam:Beta_elim_lyase	137	467	1e-7	PFAM
Pfam:Aminotran_5	167	333	1.6e-7	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119291
AA Change: I180N

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112433
Gene: ENSMUSG00000056880
AA Change: I180N

Domain	Start	End	E-Value	Type
Pfam:Pyridoxal_deC	58	426	3.2e-112	PFAM
Pfam:Beta_elim_lyase	137	446	1.6e-6	PFAM
Pfam:Aminotran_5	184	330	3.3e-6	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121770
AA Change: I180N

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113240
Gene: ENSMUSG00000056880
AA Change: I180N

Domain	Start	End	E-Value	Type
Pfam:Pyridoxal_deC	58	426	2.8e-112	PFAM
Pfam:Beta_elim_lyase	137	461	6.2e-8	PFAM
Pfam:Aminotran_5	184	330	4.1e-7	PFAM

Meta Mutation Damage Score

0.1725

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

97% (76/78)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I07Rik	C	A	14: 67,175,997 (GRCm39)	T64K	unknown	Het
Ablim2	T	C	5: 35,959,697 (GRCm39)		probably benign	Het
Acp4	T	C	7: 43,905,400 (GRCm39)	D107G	probably damaging	Het
Adamts2	T	A	11: 50,679,632 (GRCm39)	C871S	probably benign	Het
Adamts3	A	G	5: 89,856,577 (GRCm39)	V332A	probably damaging	Het
Alkal1	C	T	1: 6,459,736 (GRCm39)	T104M	probably benign	Het
Astn1	A	G	1: 158,329,720 (GRCm39)	S192G	probably damaging	Het
Axdnd1	A	C	1: 156,219,573 (GRCm39)	V337G	probably damaging	Het
Baiap2l2	T	C	15: 79,143,395 (GRCm39)	D481G	possibly damaging	Het
Cacna2d1	C	T	5: 16,567,317 (GRCm39)	T964I	probably damaging	Het
Carf	T	C	1: 60,186,645 (GRCm39)		probably benign	Het
Catsper2	T	C	2: 121,230,656 (GRCm39)	D295G	probably damaging	Het
Cdh1	A	G	8: 107,375,713 (GRCm39)	T84A	probably benign	Het
Chd8	T	A	14: 52,436,275 (GRCm39)	H2508L	possibly damaging	Het
Chl1	A	T	6: 103,688,192 (GRCm39)	T284S	probably damaging	Het
Chtop	A	T	3: 90,409,518 (GRCm39)	M125K	probably benign	Het
Col14a1	T	A	15: 55,308,041 (GRCm39)		probably benign	Het
Cplane1	T	A	15: 8,232,735 (GRCm39)		probably null	Het
Cyp2b10	A	T	7: 25,624,810 (GRCm39)		probably benign	Het
Cyp2c70	G	A	19: 40,149,163 (GRCm39)	H328Y	possibly damaging	Het
Dcbld1	A	G	10: 52,162,452 (GRCm39)	T77A	probably damaging	Het
Dnah6	A	T	6: 73,066,729 (GRCm39)		probably null	Het
Efhd1	A	T	1: 87,217,195 (GRCm39)	D104V	probably damaging	Het
Eif5b	A	T	1: 38,087,875 (GRCm39)	D957V	probably benign	Het
Eps15	T	A	4: 109,227,866 (GRCm39)	S549R	probably damaging	Het
Fbxo3	C	A	2: 103,885,330 (GRCm39)	H400N	probably benign	Het
Fcer1a	A	G	1: 173,050,264 (GRCm39)	V86A	probably damaging	Het
Fh1	A	G	1: 175,442,406 (GRCm39)	M148T	possibly damaging	Het
Foxc1	C	A	13: 31,992,586 (GRCm39)	H466N	unknown	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Gm21718	T	C	14: 51,555,223 (GRCm39)		noncoding transcript	Het
Hivep2	T	A	10: 14,003,970 (GRCm39)	Y189*	probably null	Het
Hoxd13	T	A	2: 74,499,413 (GRCm39)	S254T	possibly damaging	Het
Hspd1	A	G	1: 55,117,697 (GRCm39)		probably benign	Het
Il1r1	A	G	1: 40,334,023 (GRCm39)	M198V	probably benign	Het
Katnal1	T	A	5: 148,825,746 (GRCm39)	I362F	probably damaging	Het
Muc2	CGTG	CGTGTG	7: 141,699,185 (GRCm38)		probably null	Het
Mybpc1	T	C	10: 88,376,804 (GRCm39)		probably benign	Het
Mycbp2	A	G	14: 103,407,291 (GRCm39)		probably null	Het
Nell2	G	T	15: 95,327,859 (GRCm39)	N301K	probably damaging	Het
Nenf	T	A	1: 191,042,132 (GRCm39)	D108V	probably damaging	Het
Nfkbiz	T	C	16: 55,638,581 (GRCm39)	N293S	probably benign	Het
Nipbl	T	C	15: 8,366,403 (GRCm39)	K1229E	probably damaging	Het
Nlrp4a	T	C	7: 26,152,822 (GRCm39)	F631L	probably benign	Het
Nrp1	T	A	8: 129,224,352 (GRCm39)	V705E	probably damaging	Het
Nsf	G	C	11: 103,754,159 (GRCm39)	A459G	possibly damaging	Het
Or1af1	A	G	2: 37,110,089 (GRCm39)	E196G	probably damaging	Het
Or5w10	A	G	2: 87,375,238 (GRCm39)	S217P	probably damaging	Het
Pdia4	C	T	6: 47,775,341 (GRCm39)	D490N	possibly damaging	Het
Pinlyp	T	A	7: 24,241,226 (GRCm39)	Y192F	probably benign	Het
Pkd2	T	C	5: 104,603,543 (GRCm39)		probably benign	Het
Ppara	A	G	15: 85,685,247 (GRCm39)	K399E	probably benign	Het
Ppp4r2	C	A	6: 100,842,047 (GRCm39)	N169K	probably damaging	Het
Prom1	T	A	5: 44,171,505 (GRCm39)	E632V	possibly damaging	Het
Rpap3	T	A	15: 97,578,229 (GRCm39)	Y562F	possibly damaging	Het
Rsph14	T	A	10: 74,793,611 (GRCm39)	K263N	probably damaging	Het
Sanbr	T	C	11: 23,526,826 (GRCm39)		probably benign	Het
Scn11a	T	G	9: 119,584,091 (GRCm39)	D1508A	probably damaging	Het
Scn7a	T	C	2: 66,506,300 (GRCm39)	T1530A	probably damaging	Het
Sec14l1	T	A	11: 117,034,108 (GRCm39)		probably null	Het
Slc4a4	A	G	5: 89,362,435 (GRCm39)	I840V	probably damaging	Het
Slco1a8	G	A	6: 141,926,664 (GRCm39)	T554I	possibly damaging	Het
Slco1c1	T	A	6: 141,505,478 (GRCm39)	V419D	probably benign	Het
Sltm	T	A	9: 70,498,964 (GRCm39)	F1013I	probably damaging	Het
Spam1	A	G	6: 24,796,846 (GRCm39)	K266E	probably benign	Het
Syt15	A	G	14: 33,948,073 (GRCm39)	E306G	probably benign	Het
Tap1	A	T	17: 34,408,447 (GRCm39)		probably null	Het
Tbc1d16	G	C	11: 119,045,904 (GRCm39)		probably benign	Het
Tex47	T	C	5: 7,355,022 (GRCm39)	Y68H	probably damaging	Het
Ttn	T	C	2: 76,642,845 (GRCm39)	T13264A	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubxn2a	A	T	12: 4,935,757 (GRCm39)	F131Y	probably damaging	Het
Usp40	T	C	1: 87,923,580 (GRCm39)		probably benign	Het
Vmn1r170	T	C	7: 23,306,462 (GRCm39)	L288P	probably damaging	Het
Vmn1r175	A	G	7: 23,508,352 (GRCm39)	Y92H	probably benign	Het
Wdpcp	G	T	11: 21,835,015 (GRCm39)	E673*	probably null	Het
Zfr	T	A	15: 12,162,309 (GRCm39)	L820I	probably damaging	Het

Other mutations in Gadl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Gadl1	APN	9	115,783,907 (GRCm39)	critical splice donor site	probably null
IGL01343:Gadl1	APN	9	115,903,180 (GRCm39)	makesense	probably null
IGL01693:Gadl1	APN	9	115,778,653 (GRCm39)	missense	probably damaging	1.00
IGL02106:Gadl1	APN	9	115,766,225 (GRCm39)	utr 5 prime	probably benign
IGL02740:Gadl1	APN	9	115,835,629 (GRCm39)	nonsense	probably null
IGL03063:Gadl1	APN	9	115,795,335 (GRCm39)	missense	probably damaging	1.00
IGL03104:Gadl1	APN	9	115,903,108 (GRCm39)	missense	possibly damaging	0.93
IGL03127:Gadl1	APN	9	115,777,732 (GRCm39)	missense	probably damaging	1.00
R0133:Gadl1	UTSW	9	115,770,411 (GRCm39)	missense	probably benign	0.00
R0285:Gadl1	UTSW	9	115,859,806 (GRCm39)	splice site	probably benign
R0737:Gadl1	UTSW	9	115,903,055 (GRCm39)	missense	probably damaging	0.99
R0771:Gadl1	UTSW	9	115,773,300 (GRCm39)	missense	probably damaging	1.00
R1522:Gadl1	UTSW	9	115,773,297 (GRCm39)	missense	probably damaging	1.00
R1716:Gadl1	UTSW	9	115,835,576 (GRCm39)	nonsense	probably null
R2061:Gadl1	UTSW	9	115,770,448 (GRCm39)	missense	probably damaging	1.00
R3854:Gadl1	UTSW	9	115,835,732 (GRCm39)	nonsense	probably null
R3964:Gadl1	UTSW	9	115,794,676 (GRCm39)	missense	probably damaging	0.98
R4654:Gadl1	UTSW	9	115,770,408 (GRCm39)	missense	probably damaging	1.00
R4724:Gadl1	UTSW	9	115,783,685 (GRCm39)	missense	possibly damaging	0.81
R4765:Gadl1	UTSW	9	115,795,381 (GRCm39)	missense	probably null	0.00
R4956:Gadl1	UTSW	9	115,869,987 (GRCm39)	missense	probably benign	0.00
R5179:Gadl1	UTSW	9	115,789,448 (GRCm39)	nonsense	probably null
R5593:Gadl1	UTSW	9	115,835,718 (GRCm39)	missense	probably damaging	1.00
R5620:Gadl1	UTSW	9	115,766,230 (GRCm39)	start codon destroyed	probably benign	0.09
R6048:Gadl1	UTSW	9	115,835,769 (GRCm39)	splice site	probably null
R6458:Gadl1	UTSW	9	115,870,070 (GRCm39)	makesense	probably null
R7497:Gadl1	UTSW	9	115,903,155 (GRCm39)	missense	probably benign	0.00
R7889:Gadl1	UTSW	9	115,783,883 (GRCm39)	missense	possibly damaging	0.56
R8843:Gadl1	UTSW	9	115,835,569 (GRCm39)	missense	probably benign	0.00
R8858:Gadl1	UTSW	9	115,835,669 (GRCm39)	missense	probably damaging	1.00
R9015:Gadl1	UTSW	9	115,794,705 (GRCm39)	missense	probably benign	0.03
R9459:Gadl1	UTSW	9	115,794,679 (GRCm39)	missense	probably damaging	1.00
R9758:Gadl1	UTSW	9	115,789,519 (GRCm39)	missense	probably benign	0.09
Z1088:Gadl1	UTSW	9	115,766,338 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CATAGTTGAGACATATGGGGTGTC -3'
(R):5'- CATACGTAGGCATATCAATCACATG -3'

Sequencing Primer
(F):5'- CCTTTCACAGTGAGCTTTGGTTAGAC -3'
(R):5'- GGCATATCAATCACATGTAGATAGG -3'

Posted On

2014-10-01