Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01406:Ces1b'

79806

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ces1b

Ensembl Gene

ENSMUSG00000078964

Gene Name

carboxylesterase 1B

Synonyms

Gm5158

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL01406

Quality Score

Status

Chromosome

Chromosomal Location

93783356-93806645 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93798622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 188 (N188S)

Ref Sequence

ENSEMBL: ENSMUSP00000105210 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109582]

AlphaFold

D3Z5G7

Predicted Effect

probably damaging
Transcript: ENSMUST00000109582
AA Change: N188S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105210
Gene: ENSMUSG00000078964
AA Change: N188S

Domain	Start	End	E-Value	Type
Pfam:COesterase	1	547	7.6e-168	PFAM
Pfam:Abhydrolase_3	136	245	8.5e-11	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	G	A	5: 8,180,212 (GRCm39)	Q558*	probably null	Het
Adam29	A	T	8: 56,324,874 (GRCm39)	Y527N	probably damaging	Het
Atm	T	C	9: 53,351,046 (GRCm39)	*3067W	probably null	Het
B3galt2	A	T	1: 143,522,844 (GRCm39)	I327L	possibly damaging	Het
Cadm2	C	A	16: 66,612,192 (GRCm39)		probably null	Het
Cd6	G	T	19: 10,768,501 (GRCm39)	A496E	possibly damaging	Het
Cdh16	A	T	8: 105,345,044 (GRCm39)	I415N	possibly damaging	Het
Col4a1	T	C	8: 11,268,898 (GRCm39)	D980G	probably damaging	Het
Dmgdh	G	A	13: 93,823,539 (GRCm39)		probably benign	Het
Emb	A	T	13: 117,405,466 (GRCm39)	D296V	probably damaging	Het
Fbln2	T	C	6: 91,243,374 (GRCm39)	S917P	probably damaging	Het
Fmnl1	T	C	11: 103,085,516 (GRCm39)		probably benign	Het
Frem2	T	C	3: 53,433,317 (GRCm39)	Y2669C	probably damaging	Het
Gm3115	T	A	14: 4,087,137 (GRCm38)		probably benign	Het
Hnf1b	C	T	11: 83,779,950 (GRCm39)	P402S	probably benign	Het
Il7r	T	A	15: 9,508,300 (GRCm39)	R341*	probably null	Het
Krt75	T	C	15: 101,476,460 (GRCm39)	Y435C	probably damaging	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Musk	T	C	4: 58,367,539 (GRCm39)	Y578H	probably damaging	Het
Naa20	A	G	2: 145,757,726 (GRCm39)		probably null	Het
Ncoa7	T	C	10: 30,566,836 (GRCm39)	D565G	probably damaging	Het
Pgap1	C	T	1: 54,572,573 (GRCm39)		probably null	Het
Plekha5	G	A	6: 140,518,676 (GRCm39)	R172H	probably damaging	Het
Snx17	A	G	5: 31,353,338 (GRCm39)	Y77C	probably damaging	Het
Spdye4b	C	T	5: 143,188,166 (GRCm39)	P220S	probably benign	Het
Tbx18	T	A	9: 87,595,596 (GRCm39)	D326V	probably damaging	Het
Tlr12	A	T	4: 128,510,132 (GRCm39)	L706*	probably null	Het
Tnfrsf21	T	A	17: 43,348,837 (GRCm39)	C150S	probably damaging	Het
Togaram1	A	G	12: 65,042,352 (GRCm39)	D1187G	possibly damaging	Het
Trav5-1	T	C	14: 52,860,444 (GRCm39)	L83P	probably damaging	Het
Vmn2r75	T	A	7: 85,812,500 (GRCm39)		probably benign	Het

Other mutations in Ces1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01939:Ces1b	APN	8	93,806,059 (GRCm39)	missense	probably damaging	1.00
IGL02314:Ces1b	APN	8	93,791,524 (GRCm39)	missense	possibly damaging	0.95
IGL02338:Ces1b	APN	8	93,783,675 (GRCm39)	missense	possibly damaging	0.77
IGL02647:Ces1b	APN	8	93,783,672 (GRCm39)	missense	probably benign	0.00
IGL02833:Ces1b	APN	8	93,806,038 (GRCm39)	missense	probably damaging	1.00
IGL03038:Ces1b	APN	8	93,793,680 (GRCm39)	missense	probably benign
IGL03149:Ces1b	APN	8	93,791,502 (GRCm39)	splice site	probably benign
FR4548:Ces1b	UTSW	8	93,794,720 (GRCm39)	missense	probably null
IGL02802:Ces1b	UTSW	8	93,783,594 (GRCm39)	missense	possibly damaging	0.64
R0382:Ces1b	UTSW	8	93,802,680 (GRCm39)	splice site	probably benign
R0893:Ces1b	UTSW	8	93,806,056 (GRCm39)	missense	probably benign	0.11
R0959:Ces1b	UTSW	8	93,794,775 (GRCm39)	missense	probably damaging	1.00
R1386:Ces1b	UTSW	8	93,794,705 (GRCm39)	missense	probably benign	0.02
R1440:Ces1b	UTSW	8	93,794,736 (GRCm39)	missense	probably damaging	0.97
R1667:Ces1b	UTSW	8	93,783,532 (GRCm39)	missense	possibly damaging	0.75
R2113:Ces1b	UTSW	8	93,794,783 (GRCm39)	missense	probably benign
R2193:Ces1b	UTSW	8	93,806,505 (GRCm39)	missense	probably benign	0.00
R2508:Ces1b	UTSW	8	93,799,969 (GRCm39)	missense	possibly damaging	0.75
R4656:Ces1b	UTSW	8	93,784,042 (GRCm39)	missense	probably damaging	0.96
R4776:Ces1b	UTSW	8	93,789,658 (GRCm39)	missense	possibly damaging	0.92
R5108:Ces1b	UTSW	8	93,798,541 (GRCm39)	missense	probably damaging	1.00
R5117:Ces1b	UTSW	8	93,799,837 (GRCm39)	critical splice donor site	probably null
R5308:Ces1b	UTSW	8	93,793,645 (GRCm39)	missense	probably benign	0.00
R5381:Ces1b	UTSW	8	93,791,647 (GRCm39)	missense	probably benign	0.02
R5392:Ces1b	UTSW	8	93,798,590 (GRCm39)	missense	probably damaging	0.98
R5614:Ces1b	UTSW	8	93,794,836 (GRCm39)	missense	probably benign	0.00
R5816:Ces1b	UTSW	8	93,799,890 (GRCm39)	missense	probably benign	0.05
R6554:Ces1b	UTSW	8	93,791,619 (GRCm39)	missense	probably benign	0.03
R6576:Ces1b	UTSW	8	93,783,547 (GRCm39)	missense	probably benign	0.06
R6601:Ces1b	UTSW	8	93,806,109 (GRCm39)	missense	probably benign
R6662:Ces1b	UTSW	8	93,790,697 (GRCm39)	missense	probably benign	0.33
R6753:Ces1b	UTSW	8	93,793,648 (GRCm39)	nonsense	probably null
R6904:Ces1b	UTSW	8	93,787,038 (GRCm39)	missense	probably damaging	0.96
R7267:Ces1b	UTSW	8	93,806,132 (GRCm39)	missense	possibly damaging	0.58
R7371:Ces1b	UTSW	8	93,783,982 (GRCm39)	critical splice donor site	probably null
R7396:Ces1b	UTSW	8	93,789,757 (GRCm39)	missense	probably benign	0.00
R7992:Ces1b	UTSW	8	93,786,987 (GRCm39)	missense	probably benign	0.34
R8022:Ces1b	UTSW	8	93,795,943 (GRCm39)	critical splice donor site	probably null
R8728:Ces1b	UTSW	8	93,798,576 (GRCm39)	missense	probably benign
R8809:Ces1b	UTSW	8	93,786,949 (GRCm39)	missense	probably damaging	1.00
R8809:Ces1b	UTSW	8	93,786,948 (GRCm39)	missense	probably damaging	1.00
R9268:Ces1b	UTSW	8	93,798,583 (GRCm39)	missense	probably damaging	1.00
R9476:Ces1b	UTSW	8	93,799,890 (GRCm39)	missense	probably damaging	0.97
R9638:Ces1b	UTSW	8	93,806,534 (GRCm39)	missense	probably benign
R9667:Ces1b	UTSW	8	93,791,637 (GRCm39)	missense	probably benign	0.02
R9745:Ces1b	UTSW	8	93,790,625 (GRCm39)	missense	probably benign
R9757:Ces1b	UTSW	8	93,806,501 (GRCm39)	missense	probably benign	0.02
X0024:Ces1b	UTSW	8	93,789,645 (GRCm39)	missense	probably benign
Z1088:Ces1b	UTSW	8	93,791,594 (GRCm39)	missense	probably damaging	0.96
Z1177:Ces1b	UTSW	8	93,802,782 (GRCm39)	missense	probably benign	0.00

Posted On

2013-11-05