Mutagenetix > Incidental Mutation

Incidental Mutation 'R8162:Ces3b'

633579

Institutional Source

Beutler Lab

Gene Symbol

Ces3b

Ensembl Gene

ENSMUSG00000062181

Gene Name

carboxylesterase 3B

Synonyms

Gm4738, ES31L

MMRRC Submission

067588-MU

Accession Numbers

Essential gene?

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

Stock #

R8162 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105810385-105820561 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105817385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 371 (L371S)

Ref Sequence

ENSEMBL: ENSMUSP00000090909 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074403] [ENSMUST00000093221] [ENSMUST00000173088]

AlphaFold

Q8VCU1

Predicted Effect

probably benign
Transcript: ENSMUST00000074403
AA Change: L371S

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000074004
Gene: ENSMUSG00000062181
AA Change: L371S

Domain	Start	End	E-Value	Type
Pfam:COesterase	13	436	1.8e-127	PFAM
Pfam:Abhydrolase_3	147	303	2.8e-13	PFAM
Pfam:COesterase	423	497	5.8e-10	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093221
AA Change: L371S

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000090909
Gene: ENSMUSG00000062181
AA Change: L371S

Domain	Start	End	E-Value	Type
Pfam:COesterase	13	547	9.5e-163	PFAM
Pfam:Abhydrolase_3	147	304	2.1e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000173088
AA Change: L60S

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134204
Gene: ENSMUSG00000062181
AA Change: L60S

Domain	Start	End	E-Value	Type
Pfam:COesterase	1	114	2e-11	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol7b	T	A	15: 77,307,430 (GRCm39)	Q355L	probably benign	Het
Asb14	A	T	14: 26,633,945 (GRCm39)	Q383H	probably benign	Het
Ash1l	T	G	3: 88,977,553 (GRCm39)	M2661R	probably damaging	Het
Cacna1e	G	T	1: 154,577,313 (GRCm39)		probably null	Het
Ccdc40	G	T	11: 119,150,870 (GRCm39)		probably null	Het
Cd27	T	A	6: 125,210,188 (GRCm39)		probably null	Het
Clec4a2	T	A	6: 123,117,711 (GRCm39)	Y210N	probably damaging	Het
Cpeb2	A	T	5: 43,394,681 (GRCm39)	H553L		Het
Cpne8	T	C	15: 90,503,881 (GRCm39)	I95V	probably benign	Het
D630039A03Rik	T	C	4: 57,910,525 (GRCm39)	T96A	probably benign	Het
Dand5	C	A	8: 85,543,147 (GRCm39)	G110C	probably damaging	Het
Erich3	C	T	3: 154,470,210 (GRCm39)	T1554M	unknown	Het
Evi5l	T	C	8: 4,241,300 (GRCm39)	S278P	probably damaging	Het
Farp2	C	A	1: 93,548,325 (GRCm39)	H1003Q	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gm13741	A	C	2: 87,486,446 (GRCm39)	M273R	possibly damaging	Het
Gm28363	T	A	1: 117,626,641 (GRCm39)	D26E	unknown	Het
Gm8674	A	T	13: 50,054,407 (GRCm39)	D700E	noncoding transcript	Het
Gtf3c4	G	A	2: 28,724,593 (GRCm39)	Q380*	probably null	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Il1a	A	T	2: 129,148,477 (GRCm39)	S78T	possibly damaging	Het
Kdm2b	A	T	5: 123,072,856 (GRCm39)	Y341N	probably damaging	Het
Mcc	T	C	18: 44,582,508 (GRCm39)		probably null	Het
Met	A	G	6: 17,547,061 (GRCm39)	D898G	probably damaging	Het
Mogs	T	C	6: 83,092,863 (GRCm39)	V101A	probably damaging	Het
Mrgpra4	A	T	7: 47,631,221 (GRCm39)	Y127N	probably damaging	Het
Ms4a18	A	G	19: 10,991,071 (GRCm39)	S8P	probably benign	Het
Muc4	A	T	16: 32,569,197 (GRCm39)	T148S	unknown	Het
Nutm1	G	A	2: 112,078,817 (GRCm39)	L1033F	probably benign	Het
Ocstamp	G	T	2: 165,239,787 (GRCm39)	A133D	probably damaging	Het
Or1ab2	T	G	8: 72,864,253 (GRCm39)	V281G	noncoding transcript	Het
Or5p63	T	C	7: 107,810,995 (GRCm39)	H247R	probably damaging	Het
Or8g17	T	A	9: 38,930,249 (GRCm39)	D196V	probably benign	Het
Or9s18	G	A	13: 65,300,734 (GRCm39)	R232Q	probably damaging	Het
Phf12	C	A	11: 77,915,651 (GRCm39)	P46Q	probably damaging	Het
Prf1	A	G	10: 61,138,749 (GRCm39)	T236A	probably damaging	Het
Ptcd3	A	G	6: 71,884,798 (GRCm39)	V47A	probably benign	Het
Rapgef1	A	T	2: 29,626,011 (GRCm39)	N1071Y	probably damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rnf26rt	C	A	6: 76,473,558 (GRCm39)	A353S	probably benign	Het
Tango6	C	T	8: 107,409,882 (GRCm39)	P33L	possibly damaging	Het
Tasor2	G	T	13: 3,649,691 (GRCm39)	T36N	probably damaging	Het
Tbc1d2b	C	T	9: 90,089,937 (GRCm39)	R864H	probably damaging	Het
Tent2	A	G	13: 93,304,432 (GRCm39)		probably null	Het
Trav10n	A	T	14: 53,359,929 (GRCm39)	I69L	probably benign	Het
Tsks	A	G	7: 44,603,296 (GRCm39)	Q366R	probably damaging	Het
Vcan	G	T	13: 89,853,106 (GRCm39)	S618*	probably null	Het
Vwf	T	A	6: 125,622,799 (GRCm39)		probably null	Het
Zfp827	T	A	8: 79,787,206 (GRCm39)	L124*	probably null	Het

Other mutations in Ces3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Ces3b	APN	8	105,818,206 (GRCm39)	missense	probably benign	0.00
IGL01324:Ces3b	APN	8	105,819,884 (GRCm39)	missense	probably damaging	0.99
IGL02418:Ces3b	APN	8	105,812,279 (GRCm39)	missense	probably damaging	1.00
IGL02612:Ces3b	APN	8	105,811,901 (GRCm39)	missense	possibly damaging	0.83
IGL03400:Ces3b	APN	8	105,819,568 (GRCm39)	missense	probably damaging	1.00
R0244:Ces3b	UTSW	8	105,819,267 (GRCm39)	missense	probably damaging	1.00
R0282:Ces3b	UTSW	8	105,810,483 (GRCm39)	missense	probably benign	0.00
R0800:Ces3b	UTSW	8	105,811,901 (GRCm39)	missense	possibly damaging	0.83
R1833:Ces3b	UTSW	8	105,812,271 (GRCm39)	missense	probably damaging	0.98
R2130:Ces3b	UTSW	8	105,819,607 (GRCm39)	critical splice donor site	probably null
R3790:Ces3b	UTSW	8	105,813,520 (GRCm39)	missense	possibly damaging	0.50
R4827:Ces3b	UTSW	8	105,813,527 (GRCm39)	missense	probably benign	0.12
R5411:Ces3b	UTSW	8	105,815,264 (GRCm39)	missense	possibly damaging	0.94
R5790:Ces3b	UTSW	8	105,819,270 (GRCm39)	missense	probably damaging	1.00
R5798:Ces3b	UTSW	8	105,815,072 (GRCm39)	missense	probably damaging	1.00
R5929:Ces3b	UTSW	8	105,819,797 (GRCm39)	missense	probably damaging	1.00
R6437:Ces3b	UTSW	8	105,819,238 (GRCm39)	missense	probably damaging	1.00
R6470:Ces3b	UTSW	8	105,815,285 (GRCm39)	missense	possibly damaging	0.87
R6943:Ces3b	UTSW	8	105,819,710 (GRCm39)	missense	probably damaging	1.00
R7828:Ces3b	UTSW	8	105,813,228 (GRCm39)	missense	probably damaging	1.00
R7856:Ces3b	UTSW	8	105,819,894 (GRCm39)	makesense	probably null
R8924:Ces3b	UTSW	8	105,811,619 (GRCm39)	missense	probably benign	0.08
R9369:Ces3b	UTSW	8	105,813,502 (GRCm39)	missense	probably damaging	1.00
R9381:Ces3b	UTSW	8	105,811,670 (GRCm39)	missense	probably benign	0.30
R9651:Ces3b	UTSW	8	105,812,257 (GRCm39)	missense	probably damaging	1.00
R9652:Ces3b	UTSW	8	105,812,257 (GRCm39)	missense	probably damaging	1.00
R9653:Ces3b	UTSW	8	105,812,257 (GRCm39)	missense	probably damaging	1.00
Z1177:Ces3b	UTSW	8	105,811,715 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAATCAGTTGTCTCTCCATTGTGG -3'
(R):5'- TTCGGAGAGCTGGACAAATGC -3'

Sequencing Primer
(F):5'- GTGGATTTAACAACCTATGGCTC -3'
(R):5'- GGATGATGTCCACAGTCACC -3'

Posted On

2020-07-13