Mutagenetix > Incidental Mutations

Incidental Mutation 'R0006:Chid1'

19157

Institutional Source

Beutler Lab

Gene Symbol

Chid1

Ensembl Gene

ENSMUSG00000025512

Gene Name

chitinase domain containing 1

Synonyms

MMRRC Submission

041980-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R0006 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

141493136-141539857 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 141496426 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026585] [ENSMUST00000026586] [ENSMUST00000117634] [ENSMUST00000118694] [ENSMUST00000138092] [ENSMUST00000146305] [ENSMUST00000153191] [ENSMUST00000166082] [ENSMUST00000209452]

Predicted Effect

probably benign
Transcript: ENSMUST00000026585

SMART Domains

Protein: ENSMUSP00000026585
Gene: ENSMUSG00000025511

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	230	4.7e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000026586

SMART Domains

Protein: ENSMUSP00000026586
Gene: ENSMUSG00000025512

Domain	Start	End	E-Value	Type
PDB:3BXW\|A	4	240	1e-142	PDB
Blast:Glyco_18	82	302	1e-139	BLAST
SCOP:d1e9la1	84	240	1e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000064642

SMART Domains

Protein: ENSMUSP00000065953
Gene: ENSMUSG00000025512

Domain	Start	End	E-Value	Type
PDB:3BXW\|A	3	236	1e-143	PDB
Blast:Glyco_18	81	268	1e-121	BLAST
SCOP:d1e9la1	83	236	2e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117634

SMART Domains

Protein: ENSMUSP00000113085
Gene: ENSMUSG00000025511

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	230	1.1e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118694

SMART Domains

Protein: ENSMUSP00000112891
Gene: ENSMUSG00000025512

Domain	Start	End	E-Value	Type
PDB:3BXW\|A	1	237	1e-142	PDB
Blast:Glyco_18	79	299	1e-139	BLAST
SCOP:d1e9la1	81	237	1e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130402

Predicted Effect

probably benign
Transcript: ENSMUST00000138092

SMART Domains

Protein: ENSMUSP00000115421
Gene: ENSMUSG00000025511

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	154	1.8e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146305

SMART Domains

Protein: ENSMUSP00000118533
Gene: ENSMUSG00000025511

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	158	2.5e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147610

Predicted Effect

probably benign
Transcript: ENSMUST00000153191

SMART Domains

Protein: ENSMUSP00000114693
Gene: ENSMUSG00000025512

Domain	Start	End	E-Value	Type
low complexity region	22	32	N/A	INTRINSIC
Glyco_18	79	385	3.54e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166082

SMART Domains

Protein: ENSMUSP00000130360
Gene: ENSMUSG00000025512

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
Glyco_18	82	388	3.54e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000209452

Coding Region Coverage

1x: 77.9%
3x: 66.3%
10x: 36.9%
20x: 17.4%

Validation Efficiency

95% (74/78)

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Appl2	A	G	10: 83,602,898	F556L	probably damaging	Het
Atad2b	T	A	12: 4,942,030	S210T	possibly damaging	Het
Aurka	A	G	2: 172,359,753		probably null	Het
Chd8	A	G	14: 52,235,293	I351T	possibly damaging	Het
Dnase2b	T	A	3: 146,582,489	I284F	probably damaging	Het
Dst	C	T	1: 34,228,918	T5325I	probably benign	Het
Erbb3	A	G	10: 128,573,410		probably null	Het
Fancl	A	G	11: 26,469,695	N316S	possibly damaging	Het
Gabrd	C	A	4: 155,388,601	V72L	probably damaging	Het
Hephl1	T	A	9: 15,076,764	T683S	probably benign	Het
Jazf1	A	G	6: 52,894,086		probably benign	Het
Kntc1	T	A	5: 123,789,138	S1219T	probably benign	Het
L3mbtl1	A	T	2: 162,964,569	Y460F	possibly damaging	Het
Map1b	C	T	13: 99,435,302	V304M	probably damaging	Het
Msantd4	A	G	9: 4,384,099	E140G	probably damaging	Het
Myo16	A	G	8: 10,475,988	K843E	probably damaging	Het
Rap1gds1	G	T	3: 138,983,871		probably null	Het
Rsph4a	T	C	10: 33,909,148	C148R	probably damaging	Het
Slc7a9	A	T	7: 35,470,100		probably benign	Het
Sptbn1	A	G	11: 30,123,855	S1405P	probably damaging	Het
Tex35	T	C	1: 157,099,744	K154E	possibly damaging	Het
Tpm3	T	A	3: 90,087,661		probably benign	Het
Ubr4	T	C	4: 139,431,649	F2438L	probably benign	Het
Wfdc8	T	C	2: 164,599,064	D253G	probably damaging	Het
Zfp451	A	T	1: 33,802,780		probably benign	Het
Zfp687	A	G	3: 95,011,456	I335T	probably damaging	Het

Other mutations in Chid1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Chid1	APN	7	141522696	missense	probably damaging	1.00
IGL01095:Chid1	APN	7	141530229	missense	probably damaging	1.00
IGL01382:Chid1	APN	7	141530253	missense	probably damaging	1.00
IGL01505:Chid1	APN	7	141513894	splice site	probably null
IGL02108:Chid1	APN	7	141532928	start codon destroyed	probably null	0.98
IGL02216:Chid1	APN	7	141496593	splice site	probably benign
IGL02574:Chid1	APN	7	141496690	splice site	probably benign
R0006:Chid1	UTSW	7	141496426	splice site	probably benign
R0711:Chid1	UTSW	7	141496677	missense	probably benign
R1518:Chid1	UTSW	7	141528471	missense	probably damaging	0.98
R1836:Chid1	UTSW	7	141526496	splice site	probably null
R5026:Chid1	UTSW	7	141513836	missense	probably damaging	0.99
R5516:Chid1	UTSW	7	141496146	missense	probably damaging	1.00
R5811:Chid1	UTSW	7	141530253	missense	probably damaging	1.00
R6009:Chid1	UTSW	7	141529580	missense	probably damaging	1.00
R6182:Chid1	UTSW	7	141528502	missense	probably benign	0.08
R6238:Chid1	UTSW	7	141496136	missense	probably benign	0.03
R6966:Chid1	UTSW	7	141496384	missense	possibly damaging	0.89
R7106:Chid1	UTSW	7	141522660	missense	probably benign	0.01
R7278:Chid1	UTSW	7	141529488	intron	probably null
R7773:Chid1	UTSW	7	141529605	missense	probably benign	0.02

Posted On

2013-03-25