Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01558:Casd1'

90765

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Casd1

Ensembl Gene

ENSMUSG00000015189

Gene Name

CAS1 domain containing 1

Synonyms

Cast1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.306) question?

Stock #

IGL01558

Quality Score

Status

Chromosome

Chromosomal Location

4600911-4643355 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4624143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 312 (I312N)

Ref Sequence

ENSEMBL: ENSMUSP00000015333 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015333] [ENSMUST00000181734]

AlphaFold

Q7TN73

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015333
AA Change: I312N

PolyPhen 2 Score 0.557 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000015333
Gene: ENSMUSG00000015189
AA Change: I312N

Domain	Start	End	E-Value	Type
low complexity region	22	39	N/A	INTRINSIC
Pfam:PC-Esterase	71	292	6.3e-33	PFAM
Pfam:Cas1_AcylT	295	776	9.4e-220	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141359

SMART Domains

Protein: ENSMUSP00000115427
Gene: ENSMUSG00000015189

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:PC-Esterase	60	113	1.5e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000181734

SMART Domains

Protein: ENSMUSP00000137822
Gene: ENSMUSG00000015189

Domain	Start	End	E-Value	Type
low complexity region	22	39	N/A	INTRINSIC
Pfam:PC-Esterase	74	271	2.9e-18	PFAM
Pfam:Cas1_AcylT	272	402	3.4e-45	PFAM
Pfam:Cas1_AcylT	399	484	3.4e-37	PFAM
Pfam:Cas1_AcylT	480	527	4.4e-11	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	C	5: 77,036,464 (GRCm39)	E359G	possibly damaging	Het
Agtr1b	T	C	3: 20,370,424 (GRCm39)	T61A	probably damaging	Het
Cebpz	A	T	17: 79,242,734 (GRCm39)	F307I	probably damaging	Het
Dhx33	T	C	11: 70,890,579 (GRCm39)	R207G	probably benign	Het
G0s2	T	C	1: 192,955,003 (GRCm39)	Y27C	probably damaging	Het
Glg1	A	T	8: 111,914,362 (GRCm39)	M474K	probably benign	Het
Macf1	T	C	4: 123,346,798 (GRCm39)	N2490S	probably benign	Het
Mpdz	C	A	4: 81,213,767 (GRCm39)	E1565*	probably null	Het
Mthfsl	A	G	9: 88,570,870 (GRCm39)	I126T	possibly damaging	Het
Nectin4	A	G	1: 171,212,257 (GRCm39)	D285G	probably benign	Het
Neurod1	T	C	2: 79,284,363 (GRCm39)	H340R	possibly damaging	Het
Nop53	G	A	7: 15,679,751 (GRCm39)		probably benign	Het
Siglec1	A	G	2: 130,920,419 (GRCm39)	L795P	probably damaging	Het
Sntg1	A	T	1: 8,533,612 (GRCm39)		probably benign	Het
Stk33	T	C	7: 108,940,491 (GRCm39)		probably benign	Het
Stox1	C	T	10: 62,503,651 (GRCm39)	V135M	probably damaging	Het
Sult2a8	C	A	7: 14,159,377 (GRCm39)	E81*	probably null	Het
Tdrd6	A	G	17: 43,936,659 (GRCm39)	V1463A	probably damaging	Het
Tdrd6	C	T	17: 43,935,657 (GRCm39)	G1797D	probably benign	Het
Trmt2b	C	A	X: 133,139,305 (GRCm39)	R389I	possibly damaging	Het
Ttc28	G	T	5: 111,431,828 (GRCm39)	V1903L	probably damaging	Het

Other mutations in Casd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00704:Casd1	APN	6	4,607,979 (GRCm39)	splice site	probably benign
IGL00788:Casd1	APN	6	4,624,400 (GRCm39)	missense	probably benign	0.30
IGL01161:Casd1	APN	6	4,619,833 (GRCm39)	missense	possibly damaging	0.68
IGL02124:Casd1	APN	6	4,624,142 (GRCm39)	missense	probably benign	0.26
IGL02550:Casd1	APN	6	4,642,009 (GRCm39)	missense	probably benign	0.03
IGL02822:Casd1	APN	6	4,630,017 (GRCm39)	missense	probably damaging	1.00
IGL02957:Casd1	APN	6	4,634,068 (GRCm39)	missense	possibly damaging	0.84
IGL03113:Casd1	APN	6	4,640,951 (GRCm39)	missense	probably damaging	0.99
IGL03138:Casd1	UTSW	6	4,613,236 (GRCm39)	missense	probably damaging	1.00
R0653:Casd1	UTSW	6	4,608,075 (GRCm39)	missense	probably benign	0.00
R0673:Casd1	UTSW	6	4,624,440 (GRCm39)	missense	possibly damaging	0.68
R0729:Casd1	UTSW	6	4,619,753 (GRCm39)	splice site	probably benign
R0742:Casd1	UTSW	6	4,635,888 (GRCm39)	critical splice donor site	probably null
R0941:Casd1	UTSW	6	4,635,848 (GRCm39)	missense	probably damaging	1.00
R1056:Casd1	UTSW	6	4,641,967 (GRCm39)	missense	probably benign	0.03
R1390:Casd1	UTSW	6	4,641,859 (GRCm39)	missense	probably benign	0.04
R1394:Casd1	UTSW	6	4,624,117 (GRCm39)	missense	probably damaging	1.00
R1643:Casd1	UTSW	6	4,621,243 (GRCm39)	missense	probably benign	0.06
R1653:Casd1	UTSW	6	4,624,134 (GRCm39)	missense	probably benign	0.00
R1713:Casd1	UTSW	6	4,624,104 (GRCm39)	missense	probably damaging	1.00
R1861:Casd1	UTSW	6	4,640,951 (GRCm39)	missense	probably damaging	0.99
R1906:Casd1	UTSW	6	4,641,979 (GRCm39)	missense	probably damaging	1.00
R2094:Casd1	UTSW	6	4,608,705 (GRCm39)	missense	probably damaging	1.00
R3793:Casd1	UTSW	6	4,619,876 (GRCm39)	missense	possibly damaging	0.90
R3896:Casd1	UTSW	6	4,640,980 (GRCm39)	missense	probably damaging	1.00
R4519:Casd1	UTSW	6	4,621,102 (GRCm39)	missense	probably benign	0.00
R4610:Casd1	UTSW	6	4,631,165 (GRCm39)	critical splice donor site	probably null
R4673:Casd1	UTSW	6	4,629,975 (GRCm39)	missense	probably damaging	0.97
R4819:Casd1	UTSW	6	4,621,225 (GRCm39)	missense	probably damaging	0.99
R5920:Casd1	UTSW	6	4,641,853 (GRCm39)	missense	probably null	1.00
R5929:Casd1	UTSW	6	4,629,993 (GRCm39)	missense	probably damaging	1.00
R6130:Casd1	UTSW	6	4,641,948 (GRCm39)	missense	probably damaging	1.00
R6181:Casd1	UTSW	6	4,619,331 (GRCm39)	missense	probably damaging	1.00
R6291:Casd1	UTSW	6	4,619,834 (GRCm39)	missense	probably damaging	0.96
R6305:Casd1	UTSW	6	4,641,892 (GRCm39)	missense	probably damaging	1.00
R7147:Casd1	UTSW	6	4,624,187 (GRCm39)	missense	probably benign	0.07
R7150:Casd1	UTSW	6	4,624,211 (GRCm39)	missense	probably benign	0.01
R7657:Casd1	UTSW	6	4,619,773 (GRCm39)	missense	probably benign	0.00
R7983:Casd1	UTSW	6	4,624,472 (GRCm39)	nonsense	probably null
R8033:Casd1	UTSW	6	4,619,773 (GRCm39)	missense	probably benign	0.00
R8234:Casd1	UTSW	6	4,601,209 (GRCm39)	missense	probably damaging	1.00
R8748:Casd1	UTSW	6	4,608,634 (GRCm39)	missense	probably benign	0.02
R8985:Casd1	UTSW	6	4,624,399 (GRCm39)	nonsense	probably null
X0021:Casd1	UTSW	6	4,641,935 (GRCm39)	missense	probably damaging	1.00
Z1177:Casd1	UTSW	6	4,631,531 (GRCm39)	missense	possibly damaging	0.72

Posted On

2013-12-09