Mutagenetix > Incidental Mutation

Incidental Mutation 'R6305:Casd1'

509582

Institutional Source

Beutler Lab

Gene Symbol

Casd1

Ensembl Gene

ENSMUSG00000015189

Gene Name

CAS1 domain containing 1

Synonyms

Cast1

MMRRC Submission

044411-MU

Accession Numbers

Essential gene?

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

Stock #

R6305 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4600911-4643355 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4641892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 723 (T723I)

Ref Sequence

ENSEMBL: ENSMUSP00000015333 (fasta)

Gene Model

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

AlphaFold

Q7TN73

Predicted Effect

probably damaging
Transcript: ENSMUST00000015333
AA Change: T723I

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

SMART Domains

Protein: ENSMUSP00000015333
Gene: ENSMUSG00000015189
AA Change: T723I

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

97% (61/63)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,773,741 (GRCm39)	S977P	probably damaging	Het
Abraxas2	G	A	7: 132,476,694 (GRCm39)	A145T	probably damaging	Het
Adcy6	T	A	15: 98,496,526 (GRCm39)	I550L	probably benign	Het
Agbl3	G	A	6: 34,759,145 (GRCm39)	D19N	unknown	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Arhgap39	T	A	15: 76,621,902 (GRCm39)	D233V	probably benign	Het
Bcl9	G	A	3: 97,113,254 (GRCm39)	P1067L	possibly damaging	Het
Cd209g	T	A	8: 4,186,809 (GRCm39)	I118N	probably benign	Het
Cdh24	A	T	14: 54,869,813 (GRCm39)	D701E	possibly damaging	Het
Chd9	C	T	8: 91,757,174 (GRCm39)	P1858S	possibly damaging	Het
Csnk1g3	T	A	18: 54,065,384 (GRCm39)	Y322*	probably null	Het
Cyp2f2	G	A	7: 26,828,649 (GRCm39)	R173H	probably damaging	Het
D130043K22Rik	T	C	13: 25,069,668 (GRCm39)	F909S	probably damaging	Het
Dll4	T	A	2: 119,161,138 (GRCm39)	S299T	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dsg4	T	A	18: 20,582,847 (GRCm39)	Y162N	probably damaging	Het
Enpp1	T	C	10: 24,517,780 (GRCm39)	Y882C	probably damaging	Het
Fbxw7	T	A	3: 84,883,630 (GRCm39)	N520K	probably damaging	Het
Galc	C	T	12: 98,225,549 (GRCm39)	A14T	possibly damaging	Het
Grm7	G	A	6: 111,335,626 (GRCm39)	R679Q	probably damaging	Het
Hnrnpdl	T	C	5: 100,186,517 (GRCm39)		probably benign	Het
Il12a	A	T	3: 68,601,511 (GRCm39)	K77N	possibly damaging	Het
Il17rd	C	T	14: 26,817,899 (GRCm39)	S196L	possibly damaging	Het
Kcnv2	T	C	19: 27,301,237 (GRCm39)	F363L	probably benign	Het
Lair1	A	G	7: 4,013,727 (GRCm39)		probably null	Het
Lrit3	G	A	3: 129,594,109 (GRCm39)	T156I	probably damaging	Het
Me2	T	A	18: 73,924,915 (GRCm39)	R267S	probably benign	Het
Mga	T	C	2: 119,778,179 (GRCm39)	V1908A	probably benign	Het
Mylk3	T	A	8: 86,077,048 (GRCm39)	I463F	probably damaging	Het
Neb	G	A	2: 52,141,775 (GRCm39)	R75*	probably null	Het
Niban1	T	C	1: 151,571,469 (GRCm39)	L248P	probably damaging	Het
Or10a3b	C	T	7: 108,444,761 (GRCm39)	G152D	possibly damaging	Het
Or1j11	T	A	2: 36,311,634 (GRCm39)	S75T	probably damaging	Het
Or5p50	T	G	7: 107,421,864 (GRCm39)	T271P	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Or8b36	TG	TGGTGTTGG	9: 37,937,838 (GRCm39)		probably null	Het
Or8k33	A	G	2: 86,383,839 (GRCm39)	S210P	possibly damaging	Het
Pfas	A	G	11: 68,892,023 (GRCm39)	S162P	possibly damaging	Het
Pip5k1c	T	A	10: 81,151,768 (GRCm39)	V654E	probably benign	Het
Plxdc1	C	A	11: 97,829,416 (GRCm39)	C318F	probably damaging	Het
Qrfprl	A	T	6: 65,431,975 (GRCm39)	M293L	probably benign	Het
Rbm8a2	T	C	1: 175,806,312 (GRCm39)	D55G	probably benign	Het
Rexo5	A	T	7: 119,427,348 (GRCm39)	K419N	probably damaging	Het
Septin4	C	T	11: 87,458,145 (GRCm39)	T173M	probably benign	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc24a4	C	A	12: 102,188,360 (GRCm39)	T151K	possibly damaging	Het
Slc6a15	A	T	10: 103,225,031 (GRCm39)	I40F	probably benign	Het
Slc6a21	T	C	7: 44,930,028 (GRCm39)	V172A	possibly damaging	Het
Thrap3	A	G	4: 126,074,600 (GRCm39)		probably benign	Het
Tm9sf3	A	G	19: 41,233,881 (GRCm39)		probably null	Het
Trp53	A	T	11: 69,479,533 (GRCm39)	H211L	probably damaging	Het
Ttc21b	A	T	2: 66,018,614 (GRCm39)	N1264K	probably damaging	Het
Vmn1r120	A	T	7: 20,787,531 (GRCm39)	V60E	possibly damaging	Het
Ylpm1	A	G	12: 85,077,319 (GRCm39)	E890G	probably damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp934	T	C	13: 62,666,370 (GRCm39)	Y102C	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
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
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
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'- GTCAGGATTCTGCCATCTTCTG -3'
(R):5'- ATCGTACATGCCAGCCTTCG -3'

Sequencing Primer
(F):5'- TATGGGTCAGCAACGTGC -3'
(R):5'- TACATGCCAGCCTTCGGAAGAG -3'

Posted On

2018-04-02