Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02348:Ctrb1'

289382

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ctrb1

Ensembl Gene

ENSMUSG00000031957

Gene Name

chymotrypsinogen B1

Synonyms

2200008D09Rik, Prt-2

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.412) question?

Stock #

IGL02348

Quality Score

Status

Chromosome

Chromosomal Location

112413151-112417642 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 112413762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 201 (A201T)

Ref Sequence

ENSEMBL: ENSMUSP00000034435 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034435]

AlphaFold

Q9CR35

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034435
AA Change: A201T

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034435
Gene: ENSMUSG00000031957
AA Change: A201T

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Tryp_SPc	33	256	2.69e-98	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183519

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(8) : Targeted(2) Gene trapped(6)

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	G	A	10: 4,304,722 (GRCm39)	D511N	probably damaging	Het
Akt3	T	A	1: 176,886,952 (GRCm39)	D299V	probably damaging	Het
Arfgef3	G	A	10: 18,467,095 (GRCm39)	P2035L	probably benign	Het
Atp13a3	C	T	16: 30,170,046 (GRCm39)		probably null	Het
Capn9	C	A	8: 125,321,416 (GRCm39)	P151T	probably damaging	Het
Csrnp1	T	A	9: 119,801,709 (GRCm39)	D450V	probably damaging	Het
Erp27	T	C	6: 136,888,544 (GRCm39)	T145A	probably damaging	Het
Fads2b	T	C	2: 85,323,640 (GRCm39)	I298V	possibly damaging	Het
Fanca	A	T	8: 124,032,002 (GRCm39)	L256Q	probably damaging	Het
Fars2	G	A	13: 36,721,354 (GRCm39)	V433I	probably benign	Het
Fbxo9	T	A	9: 78,016,289 (GRCm39)	M1L	probably benign	Het
Fcnb	C	A	2: 27,974,842 (GRCm39)	V10F	possibly damaging	Het
Gad2	C	T	2: 22,519,405 (GRCm39)	H175Y	probably damaging	Het
Get4	G	A	5: 139,238,254 (GRCm39)	G12D	probably benign	Het
Gmpr2	T	A	14: 55,915,758 (GRCm39)	I312N	probably damaging	Het
Golm1	T	A	13: 59,786,191 (GRCm39)	M334L	probably benign	Het
Itgam	T	A	7: 127,715,472 (GRCm39)	F1054L	possibly damaging	Het
Kcnk7	C	A	19: 5,756,501 (GRCm39)		probably benign	Het
Kif3b	G	A	2: 153,158,813 (GRCm39)	A205T	probably damaging	Het
Macf1	C	T	4: 123,406,659 (GRCm39)	V276M	probably damaging	Het
Mdga2	T	A	12: 66,597,349 (GRCm39)	N715I	probably damaging	Het
Mfap5	T	A	6: 122,503,746 (GRCm39)	S103R	possibly damaging	Het
Nckap1	C	T	2: 80,348,326 (GRCm39)	V876M	probably damaging	Het
Ncor1	A	T	11: 62,224,485 (GRCm39)		probably benign	Het
Nfya	G	A	17: 48,700,304 (GRCm39)	Q122*	probably null	Het
Nup210l	G	A	3: 90,011,471 (GRCm39)		probably benign	Het
Or5h22	T	G	16: 58,895,312 (GRCm39)	I44L	probably damaging	Het
Pcdhb19	T	A	18: 37,631,861 (GRCm39)	L552Q	probably damaging	Het
Psmd2	T	A	16: 20,473,397 (GRCm39)	S153T	probably benign	Het
Ptpn4	T	C	1: 119,610,452 (GRCm39)	Y685C	probably damaging	Het
Rad54l2	T	C	9: 106,597,575 (GRCm39)	R144G	probably damaging	Het
S1pr4	A	C	10: 81,334,855 (GRCm39)	Y206*	probably null	Het
Slc39a14	A	G	14: 70,553,885 (GRCm39)		probably null	Het
Stx2	G	A	5: 129,065,894 (GRCm39)	A254V	probably damaging	Het
Sumf2	G	T	5: 129,888,711 (GRCm39)	G216C	probably damaging	Het
Tbc1d32	A	G	10: 56,100,715 (GRCm39)	S88P	probably benign	Het
Trem1	T	A	17: 48,539,824 (GRCm39)	M1K	probably null	Het
Trmt1l	T	C	1: 151,325,757 (GRCm39)	Y401H	probably damaging	Het
Ttc22	A	T	4: 106,480,135 (GRCm39)	M130L	probably damaging	Het
Wnk1	T	C	6: 119,940,289 (GRCm39)	E816G	probably damaging	Het
Wnt9b	C	T	11: 103,622,908 (GRCm39)	G165D	probably damaging	Het
Zscan21	A	G	5: 138,131,645 (GRCm39)	T390A	probably damaging	Het
Zswim7	G	T	11: 62,159,581 (GRCm39)	C85*	probably null	Het

Other mutations in Ctrb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02322:Ctrb1	APN	8	112,415,951 (GRCm39)	splice site	probably null
R0066:Ctrb1	UTSW	8	112,413,269 (GRCm39)	nonsense	probably null
R0066:Ctrb1	UTSW	8	112,413,269 (GRCm39)	nonsense	probably null
R0371:Ctrb1	UTSW	8	112,413,783 (GRCm39)	missense	probably benign	0.43
R1468:Ctrb1	UTSW	8	112,416,041 (GRCm39)	splice site	probably benign
R1928:Ctrb1	UTSW	8	112,415,324 (GRCm39)	missense	probably benign	0.00
R1944:Ctrb1	UTSW	8	112,416,151 (GRCm39)	missense	probably damaging	1.00
R2026:Ctrb1	UTSW	8	112,415,317 (GRCm39)	missense	probably benign	0.09
R4898:Ctrb1	UTSW	8	112,413,783 (GRCm39)	missense	probably benign	0.43
R6323:Ctrb1	UTSW	8	112,416,223 (GRCm39)	missense	probably benign	0.22
R6791:Ctrb1	UTSW	8	112,415,981 (GRCm39)	missense	possibly damaging	0.76
R6868:Ctrb1	UTSW	8	112,416,035 (GRCm39)	missense	probably benign	0.03
R6954:Ctrb1	UTSW	8	112,413,296 (GRCm39)	missense	probably damaging	0.99
R7528:Ctrb1	UTSW	8	112,413,783 (GRCm39)	missense	probably benign	0.43
R8130:Ctrb1	UTSW	8	112,415,823 (GRCm39)	missense	possibly damaging	0.85
R9218:Ctrb1	UTSW	8	112,416,140 (GRCm39)	missense	probably damaging	1.00
Z1177:Ctrb1	UTSW	8	112,413,306 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16