Mutagenetix > Incidental Mutation

Incidental Mutation 'R1390:Casd1'

162573

Institutional Source

Beutler Lab

Gene Symbol

Casd1

Ensembl Gene

ENSMUSG00000015189

Gene Name

CAS1 domain containing 1

Synonyms

Cast1

MMRRC Submission

039452-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.298) question?

Stock #

R1390 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4600911-4643355 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4641859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 712 (I712T)

Ref Sequence

ENSEMBL: ENSMUSP00000015333 (fasta)

Gene Model

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

AlphaFold

Q7TN73

Predicted Effect

probably benign
Transcript: ENSMUST00000015333
AA Change: I712T

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000015333
Gene: ENSMUSG00000015189
AA Change: I712T

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: ENSMUST00000204372

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 90.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	T	A	13: 68,805,512 (GRCm39)	I819F	possibly damaging	Het
Carm1	T	A	9: 21,490,789 (GRCm39)	M219K	probably damaging	Het
Dido1	A	G	2: 180,326,917 (GRCm39)	V402A	possibly damaging	Het
Frem3	T	C	8: 81,417,402 (GRCm39)	S2036P	probably damaging	Het
Galnt3	T	C	2: 65,921,567 (GRCm39)	Y488C	probably damaging	Het
Ints8	A	T	4: 11,239,461 (GRCm39)	I288K	probably benign	Het
Mcmbp	A	C	7: 128,325,865 (GRCm39)	M71R	probably damaging	Het
Nid1	T	G	13: 13,650,831 (GRCm39)	L456R	probably damaging	Het
Obscn	T	C	11: 58,984,274 (GRCm39)	D1752G	probably damaging	Het
Or4f47	A	G	2: 111,972,952 (GRCm39)	I221V	probably benign	Het
Osbpl3	T	A	6: 50,285,407 (GRCm39)	D647V	probably damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Shank1	G	T	7: 44,006,462 (GRCm39)	G2060W	probably damaging	Het
Skint5	A	G	4: 113,512,881 (GRCm39)	S884P	unknown	Het
Slit2	G	A	5: 48,374,832 (GRCm39)	S370N	probably benign	Het
Sorcs3	G	A	19: 48,682,440 (GRCm39)		probably null	Het
Strip2	G	T	6: 29,929,828 (GRCm39)	R305L	probably damaging	Het
Trim30d	T	C	7: 104,132,610 (GRCm39)	R226G	probably benign	Het
Vmn1r173	T	G	7: 23,402,323 (GRCm39)	V186G	possibly damaging	Het
Zfp719	A	G	7: 43,239,867 (GRCm39)	D485G	possibly 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
IGL01558:Casd1	APN	6	4,624,143 (GRCm39)	missense	possibly damaging	0.56
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
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

Predicted Primers

PCR Primer
(F):5'- TCTGATTGTCTCAGTGAGCAGAGGG -3'
(R):5'- AGAATGCAATCGTACATGCCAGCC -3'

Sequencing Primer
(F):5'- GTTGTATGGGTCAGCAACG -3'
(R):5'- ATGCCAGCCTTCGGAAGAG -3'

Posted On

2014-03-17