Mutagenetix > Incidental Mutation

Incidental Mutation 'R9268:Ces1b'

702685

Institutional Source

Beutler Lab

Gene Symbol

Ces1b

Ensembl Gene

ENSMUSG00000078964

Gene Name

carboxylesterase 1B

Synonyms

Gm5158

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9268 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93783356-93806645 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 93798583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 201 (V201G)

Ref Sequence

ENSEMBL: ENSMUSP00000105210 (fasta)

Gene Model

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

AlphaFold

D3Z5G7

Predicted Effect

probably damaging
Transcript: ENSMUST00000109582
AA Change: V201G

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

SMART Domains

Protein: ENSMUSP00000105210
Gene: ENSMUSG00000078964
AA Change: V201G

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 89,969,030 (GRCm39)	T218A	possibly damaging	Het
Acadsb	C	T	7: 131,033,763 (GRCm39)	T260I	probably damaging	Het
Acap2	A	T	16: 30,955,392 (GRCm39)	V161E	probably damaging	Het
Adnp	A	G	2: 168,031,233 (GRCm39)	I26T	possibly damaging	Het
Alk	T	C	17: 72,181,190 (GRCm39)	T1367A	probably damaging	Het
Apoa5	A	T	9: 46,181,719 (GRCm39)	D265V	probably benign	Het
Asb15	G	A	6: 24,566,298 (GRCm39)	R417H	probably benign	Het
Atg2a	A	C	19: 6,291,905 (GRCm39)	H27P	probably damaging	Het
Bace1	G	T	9: 45,767,282 (GRCm39)		probably benign	Het
Camk1d	A	G	2: 5,303,901 (GRCm39)	S351P	probably benign	Het
Carf	C	A	1: 60,148,558 (GRCm39)	Q85K	possibly damaging	Het
Cdh19	A	G	1: 110,877,111 (GRCm39)	F76S	probably damaging	Het
Clk1	A	G	1: 58,458,882 (GRCm39)	L133S	unknown	Het
Clstn3	G	A	6: 124,433,880 (GRCm39)	L427F	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Cyp2j11	A	T	4: 96,207,781 (GRCm39)		probably benign	Het
Dctn4	T	A	18: 60,659,304 (GRCm39)	M1K	probably null	Het
Dnah12	A	G	14: 26,571,255 (GRCm39)	K2788R	possibly damaging	Het
Dtna	T	A	18: 23,702,643 (GRCm39)	V58D	possibly damaging	Het
Egfr	T	A	11: 16,855,410 (GRCm39)	D898E	probably damaging	Het
Eif2ak4	G	C	2: 118,271,701 (GRCm39)		probably null	Het
Enam	A	G	5: 88,640,778 (GRCm39)	M147V	probably benign	Het
Etaa1	A	T	11: 17,896,419 (GRCm39)	V566E	probably damaging	Het
F13a1	C	T	13: 37,076,910 (GRCm39)	G593D	probably benign	Het
Far2	C	T	6: 148,060,418 (GRCm39)	T257I	probably benign	Het
Fat4	C	T	3: 38,942,396 (GRCm39)	R430C	probably damaging	Het
Fhod3	T	C	18: 24,842,832 (GRCm39)		probably null	Het
Fuca2	G	A	10: 13,390,563 (GRCm39)	W453*	probably null	Het
Hjv	T	C	3: 96,435,881 (GRCm39)	F380L	probably benign	Het
Hycc2	T	C	1: 58,591,361 (GRCm39)	D94G	probably damaging	Het
Ift70a1	A	T	2: 75,811,279 (GRCm39)	V268E	probably benign	Het
Igkv4-72	A	T	6: 69,203,980 (GRCm39)	Y70*	probably null	Het
Kdm1b	A	C	13: 47,217,705 (GRCm39)	N388T	probably benign	Het
Klri2	A	T	6: 129,710,037 (GRCm39)	W188R	probably damaging	Het
Lama4	A	G	10: 38,950,688 (GRCm39)	Y997C	probably damaging	Het
Lrrc73	T	C	17: 46,565,535 (GRCm39)	S89P	probably benign	Het
Macf1	T	C	4: 123,367,582 (GRCm39)	E2393G	probably damaging	Het
Mfsd14b	A	G	13: 65,222,855 (GRCm39)	L265P	probably damaging	Het
Msantd5f3	T	C	4: 73,575,373 (GRCm39)	S351P	probably damaging	Het
Myo3b	A	C	2: 70,257,305 (GRCm39)	*1334C	probably null	Het
Nfatc4	A	T	14: 56,064,685 (GRCm39)	I391F	probably damaging	Het
Nlgn1	A	T	3: 25,490,548 (GRCm39)	M393K	probably damaging	Het
Or5h17	T	G	16: 58,820,083 (GRCm39)	F12V	probably damaging	Het
Or9i14	A	T	19: 13,792,388 (GRCm39)	C189S	probably damaging	Het
Otogl	A	T	10: 107,616,917 (GRCm39)	C1787S	probably damaging	Het
Papola	A	G	12: 105,766,032 (GRCm39)	E44G	probably benign	Het
Parp1	A	G	1: 180,415,509 (GRCm39)	K443E	possibly damaging	Het
Pcdh15	A	T	10: 74,479,455 (GRCm39)	E522V	probably benign	Het
Peli2	A	G	14: 48,518,927 (GRCm39)	E225G	probably benign	Het
Pus7l	T	C	15: 94,431,445 (GRCm39)	I395V	probably benign	Het
Rmi1	T	C	13: 58,555,853 (GRCm39)	I34T	probably damaging	Het
Rnf220	A	G	4: 117,346,833 (GRCm39)	I193T	probably benign	Het
Rpgrip1l	T	C	8: 92,007,355 (GRCm39)	T412A	probably benign	Het
Shisa7	T	G	7: 4,837,333 (GRCm39)	D244A	probably damaging	Het
Slco3a1	T	C	7: 73,952,946 (GRCm39)	T538A	probably benign	Het
Sptlc1	A	T	13: 53,512,872 (GRCm39)	I162N	probably damaging	Het
Ssrp1	C	A	2: 84,870,606 (GRCm39)		probably benign	Het
Sytl2	A	G	7: 90,034,359 (GRCm39)	N523S	probably benign	Het
Tcf20	A	G	15: 82,740,705 (GRCm39)	S249P	probably benign	Het
Thumpd3	T	A	6: 113,043,819 (GRCm39)	F411L	probably damaging	Het
Ttn	A	G	2: 76,768,079 (GRCm39)	W3007R	unknown	Het
Ulbp1	A	T	10: 7,396,392 (GRCm39)	L295Q	unknown	Het
Vmn1r29	T	A	6: 58,284,577 (GRCm39)	V99E	probably damaging	Het
Wdr47	T	C	3: 108,525,812 (GRCm39)	F112L	probably benign	Het
Wnk2	A	G	13: 49,235,507 (GRCm39)	V636A	possibly damaging	Het
Zswim8	T	C	14: 20,761,908 (GRCm39)	L227P	probably damaging	Het

Other mutations in Ces1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01406:Ces1b	APN	8	93,798,622 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- ATGCAAACATGTTGTGCTGGATTG -3'
(R):5'- CATGCAAATTCCCTCCAGTGC -3'

Sequencing Primer
(F):5'- GCTGGATTGACTGTGTTCTAAC -3'
(R):5'- AAATTCCCTCCAGTGCTGTGATG -3'

Posted On

2022-03-25