Mutagenetix > Incidental Mutation

Incidental Mutation 'R0711:Chid1'

62740

Institutional Source

Beutler Lab

Gene Symbol

Chid1

Ensembl Gene

ENSMUSG00000025512

Gene Name

chitinase domain containing 1

Synonyms

3110023E09Rik

MMRRC Submission

038894-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R0711 (G1)

Quality Score

139

Status

Validated

Chromosome

Chromosomal Location

141073049-141119770 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 141076590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 325 (V325I)

Ref Sequence

ENSEMBL: ENSMUSP00000130360 (fasta)

Gene Model

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

AlphaFold

Q922Q9

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
AA Change: V239I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026586
Gene: ENSMUSG00000025512
AA Change: V239I

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
AA Change: V236I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112891
Gene: ENSMUSG00000025512
AA Change: V236I

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: ENSMUST00000166082
AA Change: V325I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000130360
Gene: ENSMUSG00000025512
AA Change: V325I

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: ENSMUST00000153191
AA Change: V322I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114693
Gene: ENSMUSG00000025512
AA Change: V322I

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: ENSMUST00000209452

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147610

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 91.4%

Validation Efficiency

100% (91/91)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,773,986 (GRCm39)	D1058E	probably damaging	Het
4933405L10Rik	A	T	8: 106,435,563 (GRCm39)		probably null	Het
Adamtsl3	T	A	7: 82,114,907 (GRCm39)		probably benign	Het
Afdn	C	T	17: 14,072,698 (GRCm39)	P874S	probably damaging	Het
Ankrd6	G	A	4: 32,815,326 (GRCm39)	A391V	probably damaging	Het
Arhgef28	T	G	13: 98,067,762 (GRCm39)	T1388P	probably damaging	Het
Asxl3	G	T	18: 22,657,508 (GRCm39)	M1839I	probably benign	Het
BC005537	T	C	13: 24,989,923 (GRCm39)	F129L	probably damaging	Het
Celf2	A	G	2: 6,726,226 (GRCm39)		probably null	Het
Cnn3	T	A	3: 121,243,633 (GRCm39)	D31E	probably benign	Het
Col12a1	G	A	9: 79,559,317 (GRCm39)	P1857L	probably damaging	Het
Cpeb1	T	A	7: 81,001,618 (GRCm39)	R430W	probably benign	Het
Daw1	T	C	1: 83,169,059 (GRCm39)		probably benign	Het
Dcaf13	A	G	15: 39,001,484 (GRCm39)	Y264C	probably damaging	Het
Dnah6	T	C	6: 73,064,585 (GRCm39)	I2666V	probably damaging	Het
Dnai2	A	C	11: 114,645,158 (GRCm39)	D531A	probably benign	Het
Dock10	A	T	1: 80,501,692 (GRCm39)	F1833I	probably damaging	Het
Efhd2	C	T	4: 141,587,183 (GRCm39)	A200T	probably damaging	Het
Epb41l5	T	A	1: 119,551,641 (GRCm39)		probably benign	Het
Ermp1	A	G	19: 29,608,788 (GRCm39)	Y164H	possibly damaging	Het
Gkn2	T	C	6: 87,350,401 (GRCm39)		probably benign	Het
Golgb1	A	T	16: 36,739,152 (GRCm39)	Q2497L	probably damaging	Het
Gzme	A	T	14: 56,355,196 (GRCm39)	M245K	probably damaging	Het
Iars2	A	T	1: 185,054,585 (GRCm39)		probably benign	Het
Icosl	T	A	10: 77,909,775 (GRCm39)	V240D	probably damaging	Het
Igsf3	T	C	3: 101,334,709 (GRCm39)	M262T	probably benign	Het
Ing3	G	T	6: 21,971,236 (GRCm39)	E336*	probably null	Het
Kat2a	A	T	11: 100,597,297 (GRCm39)	V625E	probably damaging	Het
Ksr1	A	G	11: 78,929,073 (GRCm39)		probably benign	Het
Lypd8	A	T	11: 58,277,583 (GRCm39)	M122L	probably benign	Het
Mdfi	A	T	17: 48,143,855 (GRCm39)		probably benign	Het
Med13	A	G	11: 86,192,179 (GRCm39)		probably benign	Het
Msh6	C	T	17: 88,294,112 (GRCm39)	R956C	probably damaging	Het
Myo15b	A	G	11: 115,774,664 (GRCm39)	E670G	probably damaging	Het
Myo1d	A	G	11: 80,375,158 (GRCm39)	L972P	probably damaging	Het
Or4s2b	A	G	2: 88,509,018 (GRCm39)	D266G	probably damaging	Het
Or51ai2	G	A	7: 103,587,024 (GRCm39)	A146T	probably benign	Het
Or7g12	T	A	9: 18,899,447 (GRCm39)	N54K	probably benign	Het
Pde8b	C	G	13: 95,244,325 (GRCm39)	S143T	possibly damaging	Het
Pias4	G	T	10: 80,993,364 (GRCm39)		probably benign	Het
Prkca	A	G	11: 107,872,480 (GRCm39)	Y427H	probably benign	Het
Psg25	G	A	7: 18,263,485 (GRCm39)	Q113*	probably null	Het
Rab3gap2	T	A	1: 184,982,123 (GRCm39)	S392T	probably damaging	Het
Scrib	A	G	15: 75,938,756 (GRCm39)		probably benign	Het
Sdk2	A	G	11: 113,793,970 (GRCm39)		probably benign	Het
Serpinb1c	T	A	13: 33,070,266 (GRCm39)		probably benign	Het
Serpinb9f	T	A	13: 33,511,904 (GRCm39)	W136R	probably damaging	Het
Skic3	C	T	13: 76,331,010 (GRCm39)	P1480L	probably damaging	Het
Skint10	C	A	4: 112,573,102 (GRCm39)		probably benign	Het
Slc25a13	T	C	6: 6,117,128 (GRCm39)	T196A	probably damaging	Het
Slc26a5	T	C	5: 22,052,230 (GRCm39)	H33R	probably damaging	Het
Slc27a6	T	C	18: 58,731,829 (GRCm39)		probably benign	Het
Slitrk6	A	T	14: 110,987,251 (GRCm39)	Y819N	probably damaging	Het
Spata46	C	T	1: 170,139,603 (GRCm39)	Q201*	probably null	Het
Sptbn1	A	T	11: 30,064,739 (GRCm39)	V1920E	probably damaging	Het
Taf6l	A	G	19: 8,755,881 (GRCm39)	F256L	probably benign	Het
Tmco3	T	A	8: 13,342,039 (GRCm39)	N104K	probably damaging	Het
Tmem200c	A	G	17: 69,149,249 (GRCm39)	T611A	probably damaging	Het
Tmem202	T	G	9: 59,432,655 (GRCm39)	Y24S	probably damaging	Het
Tpp1	A	G	7: 105,398,626 (GRCm39)	L230P	probably damaging	Het
Trim56	C	T	5: 137,141,846 (GRCm39)	E557K	probably benign	Het
Trrap	C	T	5: 144,790,309 (GRCm39)	L3590F	probably damaging	Het
Tulp4	A	G	17: 6,189,387 (GRCm39)	T70A	possibly damaging	Het
Vcp	G	C	4: 42,986,201 (GRCm39)	A297G	probably benign	Het
Vwf	T	A	6: 125,603,234 (GRCm39)	H861Q	probably benign	Het
Wdr64	T	C	1: 175,599,751 (GRCm39)	I536T	probably benign	Het
Zfp850	T	C	7: 27,689,698 (GRCm39)	N170S	probably benign	Het
Zfp87	G	A	13: 74,524,544 (GRCm39)		probably benign	Het

Other mutations in Chid1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Chid1	APN	7	141,102,609 (GRCm39)	missense	probably damaging	1.00
IGL01095:Chid1	APN	7	141,110,142 (GRCm39)	missense	probably damaging	1.00
IGL01382:Chid1	APN	7	141,110,166 (GRCm39)	missense	probably damaging	1.00
IGL01505:Chid1	APN	7	141,093,807 (GRCm39)	splice site	probably null
IGL02108:Chid1	APN	7	141,112,841 (GRCm39)	start codon destroyed	probably null	0.98
IGL02216:Chid1	APN	7	141,076,506 (GRCm39)	splice site	probably benign
IGL02574:Chid1	APN	7	141,076,603 (GRCm39)	splice site	probably benign
R0006:Chid1	UTSW	7	141,076,339 (GRCm39)	splice site	probably benign
R0006:Chid1	UTSW	7	141,076,339 (GRCm39)	splice site	probably benign
R1518:Chid1	UTSW	7	141,108,384 (GRCm39)	missense	probably damaging	0.98
R1836:Chid1	UTSW	7	141,106,409 (GRCm39)	splice site	probably null
R5026:Chid1	UTSW	7	141,093,749 (GRCm39)	missense	probably damaging	0.99
R5516:Chid1	UTSW	7	141,076,059 (GRCm39)	missense	probably damaging	1.00
R5811:Chid1	UTSW	7	141,110,166 (GRCm39)	missense	probably damaging	1.00
R6009:Chid1	UTSW	7	141,109,493 (GRCm39)	missense	probably damaging	1.00
R6182:Chid1	UTSW	7	141,108,415 (GRCm39)	missense	probably benign	0.08
R6238:Chid1	UTSW	7	141,076,049 (GRCm39)	missense	probably benign	0.03
R6966:Chid1	UTSW	7	141,076,297 (GRCm39)	missense	possibly damaging	0.89
R7106:Chid1	UTSW	7	141,102,573 (GRCm39)	missense	probably benign	0.01
R7278:Chid1	UTSW	7	141,109,401 (GRCm39)	splice site	probably null
R7773:Chid1	UTSW	7	141,109,518 (GRCm39)	missense	probably benign	0.02
R8714:Chid1	UTSW	7	141,093,678 (GRCm39)	nonsense	probably null
R9169:Chid1	UTSW	7	141,093,722 (GRCm39)	missense	probably damaging	1.00
R9536:Chid1	UTSW	7	141,093,755 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTTGGGTAGAAGACAACATGCCTCC -3'
(R):5'- TCCATTGGCTTCAAGAAGGCTCAC -3'

Sequencing Primer
(F):5'- GCTAGGTCAAGGACTACACTCTTC -3'
(R):5'- GCTCACAAAAGGTGCTGTTTC -3'

Posted On

2013-07-30