Mutagenetix > Incidental Mutation

Incidental Mutation 'R6291:Casd1'

508418

Institutional Source

Beutler Lab

Gene Symbol

Casd1

Ensembl Gene

ENSMUSG00000015189

Gene Name

CAS1 domain containing 1

Synonyms

Cast1

Accession Numbers

Essential gene?

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

Stock #

R6291 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4600911-4643355 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 4619834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 193 (P193Q)

Ref Sequence

ENSEMBL: ENSMUSP00000015333 (fasta)

Gene Model

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

AlphaFold

Q7TN73

Predicted Effect

probably damaging
Transcript: ENSMUST00000015333
AA Change: P193Q

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000015333
Gene: ENSMUSG00000015189
AA Change: P193Q

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

unknown
Transcript: ENSMUST00000141359
AA Change: P145Q

SMART Domains

Protein: ENSMUSP00000115427
Gene: ENSMUSG00000015189
AA Change: P145Q

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000181734
AA Change: P193Q

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137822
Gene: ENSMUSG00000015189
AA Change: P193Q

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (86/88)

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	T	8: 87,293,173 (GRCm39)	G5D	possibly damaging	Het
Adamts9	T	C	6: 92,867,101 (GRCm39)	K95R	probably damaging	Het
Adap1	G	T	5: 139,259,246 (GRCm39)	L314M	probably benign	Het
Alkbh1	T	A	12: 87,475,864 (GRCm39)	E306V	possibly damaging	Het
Alpk2	T	A	18: 65,438,972 (GRCm39)	D1274V	possibly damaging	Het
Ankrd31	A	C	13: 97,014,746 (GRCm39)	K1188N	possibly damaging	Het
Aox1	T	A	1: 58,369,965 (GRCm39)	M759K	probably damaging	Het
Atp13a3	T	A	16: 30,155,061 (GRCm39)	D961V	probably damaging	Het
Bcl11a	G	A	11: 24,108,321 (GRCm39)	G100R	probably damaging	Het
Bpifc	G	A	10: 85,812,122 (GRCm39)	A362V	probably damaging	Het
Btaf1	C	T	19: 36,950,408 (GRCm39)	T546I	probably benign	Het
Cdhr1	T	C	14: 36,811,422 (GRCm39)	T230A	probably benign	Het
Celsr3	T	G	9: 108,706,041 (GRCm39)	D841E	probably damaging	Het
Cenpj	T	C	14: 56,789,433 (GRCm39)	D872G	probably benign	Het
Cep95	G	T	11: 106,706,422 (GRCm39)	A559S	probably damaging	Het
Chpt1	A	T	10: 88,311,306 (GRCm39)	C62*	probably null	Het
Cspg4b	T	A	13: 113,456,981 (GRCm39)	I1009N	possibly damaging	Het
Cspp1	A	G	1: 10,134,559 (GRCm39)	K103R	probably damaging	Het
Ctla4	T	C	1: 60,951,837 (GRCm39)	V122A	probably benign	Het
Cyp3a11	A	G	5: 145,799,237 (GRCm39)	F317L	possibly damaging	Het
Daam1	T	C	12: 71,993,025 (GRCm39)	L338P	unknown	Het
Dcc	T	A	18: 71,815,238 (GRCm39)	I379L	probably benign	Het
Dennd2c	C	A	3: 103,038,925 (GRCm39)	C24*	probably null	Het
Dnai3	G	A	3: 145,772,648 (GRCm39)	S466L	probably benign	Het
Dnajc12	A	G	10: 63,233,053 (GRCm39)	I65V	probably benign	Het
Dock3	T	A	9: 106,785,631 (GRCm39)	M208L	probably benign	Het
Dsg1b	T	C	18: 20,537,848 (GRCm39)	I588T	possibly damaging	Het
Eif1b	T	C	9: 120,323,206 (GRCm39)	L22S	probably benign	Het
Ep300	T	A	15: 81,532,708 (GRCm39)	S1649T	unknown	Het
Eps15	CAAA	CAA	4: 109,162,900 (GRCm39)		probably null	Het
Ercc6	A	T	14: 32,291,943 (GRCm39)	E1102D	probably benign	Het
Gsdmc3	T	C	15: 63,732,090 (GRCm39)	N312S	probably benign	Het
Guca2b	A	T	4: 119,514,890 (GRCm39)	L57Q	probably damaging	Het
Heatr5b	G	T	17: 79,069,526 (GRCm39)	H1740Q	probably benign	Het
Hecw1	G	A	13: 14,697,592 (GRCm39)		probably benign	Het
Icam5	A	G	9: 20,948,217 (GRCm39)	H675R	probably benign	Het
Il18rap	T	C	1: 40,564,049 (GRCm39)	F56L	probably benign	Het
Iqgap3	T	A	3: 87,997,037 (GRCm39)		probably null	Het
Itsn1	T	C	16: 91,664,984 (GRCm39)		probably benign	Het
Jakmip3	A	T	7: 138,622,585 (GRCm39)	D315V	probably damaging	Het
Kif24	A	G	4: 41,413,959 (GRCm39)	Y328H	probably damaging	Het
Kmt2a	A	T	9: 44,744,171 (GRCm39)		probably benign	Het
Kng1	A	G	16: 22,898,475 (GRCm39)	E625G	probably damaging	Het
Man2b1	C	T	8: 85,823,675 (GRCm39)	T973I	probably benign	Het
Masp2	G	A	4: 148,687,210 (GRCm39)	V31M	probably damaging	Het
Myo18b	C	T	5: 113,013,601 (GRCm39)	R785H	possibly damaging	Het
Naa15	G	A	3: 51,350,212 (GRCm39)	G103D	probably damaging	Het
Or4f15	A	G	2: 111,813,969 (GRCm39)	V150A	probably benign	Het
Or5m11b	A	G	2: 85,805,926 (GRCm39)	Y113C	probably damaging	Het
Or7e177	T	A	9: 20,211,899 (GRCm39)	D134E	probably damaging	Het
Papln	A	G	12: 83,829,789 (GRCm39)	N970S	probably benign	Het
Pick1	T	A	15: 79,135,928 (GRCm39)		probably null	Het
Pigr	A	C	1: 130,769,498 (GRCm39)	D103A	probably benign	Het
Plekhf1	A	C	7: 37,921,029 (GRCm39)	F180V	possibly damaging	Het
Plxnc1	A	G	10: 94,669,504 (GRCm39)		probably null	Het
Polr3f	A	G	2: 144,376,308 (GRCm39)	I136V	probably damaging	Het
Ppp2r2c	T	C	5: 37,097,468 (GRCm39)	M218T	possibly damaging	Het
Prox2	C	T	12: 85,136,420 (GRCm39)	V466I	probably damaging	Het
Prrc2a	G	A	17: 35,373,909 (GRCm39)	L1479F	probably damaging	Het
Rbm24	T	A	13: 46,575,313 (GRCm39)		probably null	Het
Rcc1l	A	T	5: 134,195,560 (GRCm39)		probably null	Het
Ripk4	A	C	16: 97,556,323 (GRCm39)	L140R	probably damaging	Het
Rmnd1	A	T	10: 4,372,135 (GRCm39)	L188Q	probably damaging	Het
Rnf170	C	T	8: 26,630,992 (GRCm39)	P249S	probably damaging	Het
Rras	A	G	7: 44,667,595 (GRCm39)		probably null	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Scn7a	T	A	2: 66,530,458 (GRCm39)	D629V	probably damaging	Het
Sipa1l3	A	G	7: 29,087,558 (GRCm39)	S556P	probably damaging	Het
Smarca2	C	T	19: 26,608,292 (GRCm39)	A117V	probably damaging	Het
Snca	C	T	6: 60,792,702 (GRCm39)	A69T	probably damaging	Het
Snx2	T	C	18: 53,342,737 (GRCm39)		probably null	Het
Spp1	T	A	5: 104,587,242 (GRCm39)	S109T	possibly damaging	Het
Stoml3	T	C	3: 53,414,937 (GRCm39)	L243P	probably damaging	Het
Susd2	A	G	10: 75,473,408 (GRCm39)	F789L	possibly damaging	Het
Sycp1	A	G	3: 102,816,277 (GRCm39)	M419T	probably damaging	Het
Thoc1	T	C	18: 9,993,330 (GRCm39)	V563A	probably benign	Het
Tmprss11g	T	C	5: 86,635,281 (GRCm39)	I398V	probably damaging	Het
Tox3	A	G	8: 90,975,566 (GRCm39)	L355P	probably damaging	Het
Tpp1	A	G	7: 105,396,223 (GRCm39)	I492T	probably benign	Het
Trim21	A	T	7: 102,213,289 (GRCm39)	L3Q	probably damaging	Het
Ttn	A	C	2: 76,738,080 (GRCm39)	V4153G	probably benign	Het
Ttn	T	C	2: 76,744,638 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,560,756 (GRCm39)	E828G	possibly damaging	Het
Vav3	A	G	3: 109,416,170 (GRCm39)	N263S	possibly damaging	Het
Vmn1r183	A	C	7: 23,754,982 (GRCm39)	T262P	possibly damaging	Het
Vmn2r67	G	A	7: 84,799,142 (GRCm39)	P522S	possibly damaging	Het
Vps35	T	A	8: 86,026,086 (GRCm39)	M1L	probably benign	Het
Xpo7	A	T	14: 70,942,130 (GRCm39)	L79*	probably null	Het
Zc3h14	G	A	12: 98,726,087 (GRCm39)	R324H	probably damaging	Het
Zfp330	T	C	8: 83,499,613 (GRCm39)	T6A	probably damaging	Het
Zfp948	T	A	17: 21,807,286 (GRCm39)	H159Q	unknown	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
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'- GTTTCACTCTTAAAGACATGCCAAG -3'
(R):5'- CCGTAGTTTACAGCCATTCTGC -3'

Sequencing Primer
(F):5'- GGGCCTGAATGAACTAAGTAAATTTC -3'
(R):5'- AGCCATTCTGCTGCTGG -3'

Posted On

2018-03-15