Mutagenetix > Incidental Mutation

Incidental Mutation 'R8985:Casd1'

683952

Institutional Source

Beutler Lab

Gene Symbol

Casd1

Ensembl Gene

ENSMUSG00000015189

Gene Name

CAS1 domain containing 1

Synonyms

Cast1

MMRRC Submission

068818-MU

Accession Numbers

Essential gene?

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

Stock #

R8985 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4600911-4643355 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 4624399 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 397 (Y397*)

Ref Sequence

ENSEMBL: ENSMUSP00000015333 (fasta)

Gene Model

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

AlphaFold

Q7TN73

Predicted Effect

probably null
Transcript: ENSMUST00000015333
AA Change: Y397*

SMART Domains

Protein: ENSMUSP00000015333
Gene: ENSMUSG00000015189
AA Change: Y397*

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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	A	3: 36,141,860 (GRCm39)		probably benign	Het
Agbl1	C	A	7: 75,969,904 (GRCm39)	S53R		Het
Ahr	T	C	12: 35,576,736 (GRCm39)	K65R	possibly damaging	Het
AI429214	A	T	8: 37,460,820 (GRCm39)		probably benign	Het
Ankrd52	T	C	10: 128,222,978 (GRCm39)	S643P	probably damaging	Het
Asz1	T	C	6: 18,051,336 (GRCm39)	T448A	probably benign	Het
Atp10a	A	G	7: 58,438,092 (GRCm39)	I425V	probably benign	Het
Ccdc162	A	G	10: 41,432,102 (GRCm39)	I1797T	probably damaging	Het
Cdc20b	A	T	13: 113,196,330 (GRCm39)	R152*	probably null	Het
Cdc25b	T	C	2: 131,035,180 (GRCm39)	C313R	probably damaging	Het
Cfap73	T	A	5: 120,768,123 (GRCm39)	T212S	probably benign	Het
Chd9	G	T	8: 91,721,101 (GRCm39)	R963L	unknown	Het
Clip4	G	T	17: 72,113,527 (GRCm39)	V226F	probably damaging	Het
Cmya5	A	G	13: 93,233,664 (GRCm39)	S475P	possibly damaging	Het
Cntn5	A	G	9: 10,171,960 (GRCm39)	Y75H	possibly damaging	Het
Crtc1	T	G	8: 70,855,092 (GRCm39)	H176P	probably damaging	Het
Cspg5	T	C	9: 110,085,502 (GRCm39)	W558R	unknown	Het
Cyp2c39	A	G	19: 39,552,419 (GRCm39)	T371A	probably benign	Het
Dcaf8	G	A	1: 172,000,199 (GRCm39)	R119H	probably benign	Het
Drosha	G	T	15: 12,924,187 (GRCm39)	A1190S	possibly damaging	Het
Dst	T	C	1: 34,288,886 (GRCm39)	V5655A	probably benign	Het
Etnk1	C	G	6: 143,140,953 (GRCm39)		probably benign	Het
Flnc	T	A	6: 29,440,499 (GRCm39)	V269D	probably benign	Het
Foxs1	T	A	2: 152,775,058 (GRCm39)		probably benign	Het
Ftsj3	T	C	11: 106,141,595 (GRCm39)	Y551C	possibly damaging	Het
Fzd6	A	T	15: 38,895,019 (GRCm39)	H395L	probably damaging	Het
Grm6	C	T	11: 50,746,537 (GRCm39)	A289V	possibly damaging	Het
Hook1	A	G	4: 95,910,468 (GRCm39)	D694G	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Igha	T	C	12: 113,222,611 (GRCm39)	E270G		Het
Itga2b	C	A	11: 102,356,288 (GRCm39)		probably benign	Het
Jade1	A	C	3: 41,568,148 (GRCm39)	S739R	probably benign	Het
Lpin3	T	C	2: 160,738,674 (GRCm39)	S209P	probably benign	Het
Ly6i	A	C	15: 74,851,806 (GRCm39)	L121R	probably damaging	Het
Ms4a1	C	T	19: 11,232,055 (GRCm39)	V107I	probably benign	Het
Mycbpap	T	A	11: 94,404,722 (GRCm39)	T74S	probably benign	Het
Nlrp14	A	G	7: 106,796,436 (GRCm39)	N921D	probably benign	Het
Nmur1	C	T	1: 86,314,103 (GRCm39)	E388K	probably benign	Het
Nol4	T	C	18: 23,085,294 (GRCm39)	Y40C	probably damaging	Het
Or1e1c	T	C	11: 73,266,252 (GRCm39)	S229P	possibly damaging	Het
Or51k1	A	T	7: 103,661,367 (GRCm39)	C181S	probably damaging	Het
Or8b51	A	T	9: 38,569,621 (GRCm39)	Y22*	probably null	Het
Pawr	G	A	10: 108,247,861 (GRCm39)	V283M	possibly damaging	Het
Pde6b	T	C	5: 108,578,503 (GRCm39)	Y814H	probably benign	Het
Pds5b	T	A	5: 150,724,239 (GRCm39)	L1272H	probably benign	Het
Pkd1l2	T	C	8: 117,764,849 (GRCm39)	T1350A	probably benign	Het
Plcz1	T	A	6: 139,961,903 (GRCm39)	Q216L	possibly damaging	Het
Prodh	A	T	16: 17,890,362 (GRCm39)	C522S	probably null	Het
Rasef	G	T	4: 73,708,960 (GRCm39)	P91Q	possibly damaging	Het
Rgs14	G	A	13: 55,531,234 (GRCm39)		probably benign	Het
Rnase6	A	T	14: 51,367,632 (GRCm39)	Y8F	unknown	Het
Rnf216	T	A	5: 143,076,180 (GRCm39)	T235S	probably benign	Het
Slco2a1	G	A	9: 102,949,834 (GRCm39)		probably null	Het
Smoc1	A	G	12: 81,226,261 (GRCm39)	E362G	probably damaging	Het
Sncaip	T	C	18: 53,002,169 (GRCm39)	L230P	probably benign	Het
Tdrd3	A	G	14: 87,743,597 (GRCm39)	E515G	possibly damaging	Het
Tipin	T	A	9: 64,195,385 (GRCm39)		probably null	Het
Tmem9	T	A	1: 135,955,145 (GRCm39)	V93D	possibly damaging	Het
Tpm3-rs7	A	C	14: 113,552,756 (GRCm39)	I217L	probably benign	Het
Ttc41	A	T	10: 86,566,956 (GRCm39)	I541F	possibly damaging	Het
Uck2	T	C	1: 167,070,681 (GRCm39)	D16G	probably benign	Het
Vmn1r50	A	G	6: 90,085,017 (GRCm39)	D254G	probably benign	Het
Vmn2r50	A	C	7: 9,779,974 (GRCm39)	F469C	probably damaging	Het
Vmn2r57	A	G	7: 41,049,259 (GRCm39)	V830A	probably benign	Het
Wwc2	T	A	8: 48,331,919 (GRCm39)	R299S	probably benign	Het
Xdh	C	T	17: 74,228,346 (GRCm39)	G352R	probably damaging	Het
Xkr9	A	T	1: 13,770,990 (GRCm39)	M169L	probably benign	Het
Zbtb10	A	G	3: 9,345,807 (GRCm39)	D767G	probably damaging	Het
Zfp106	T	C	2: 120,366,077 (GRCm39)	Y65C		Het
Zfp536	A	G	7: 37,268,228 (GRCm39)	L396P	probably damaging	Het
Znhit1	C	A	5: 137,011,408 (GRCm39)	C135F	probably damaging	Het
Zscan5b	A	G	7: 6,241,834 (GRCm39)	E351G	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
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
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'- CATCGTAATGCTCACCGGAAG -3'
(R):5'- ACTAAGCAGAGGACAACTTCAG -3'

Sequencing Primer
(F):5'- CCGGAAGAATAAACCATGTACTG -3'
(R):5'- AGAACCCTTCATCTCCCTGTAG -3'

Posted On

2021-10-11