Mutagenetix > Incidental Mutation

Incidental Mutation 'R0962:Cachd1'

81243

Institutional Source

Beutler Lab

Gene Symbol

Cachd1

Ensembl Gene

ENSMUSG00000028532

Gene Name

cache domain containing 1

Synonyms

Vwcd1, 1190007F10Rik, B430218L07Rik

MMRRC Submission

039091-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.258) question?

Stock #

R0962 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100633870-100861741 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 100840498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000095568 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030257] [ENSMUST00000097955]

AlphaFold

Q6PDJ1

Predicted Effect

probably benign
Transcript: ENSMUST00000030257

SMART Domains

Protein: ENSMUSP00000030257
Gene: ENSMUSG00000028532

Domain	Start	End	E-Value	Type
low complexity region	11	24	N/A	INTRINSIC
Pfam:VWA_N	103	218	9.4e-22	PFAM
VWA	240	438	2.8e-1	SMART
Pfam:Cache_1	467	543	2.4e-12	PFAM
Pfam:Cache_1	786	871	1.5e-7	PFAM
low complexity region	981	996	N/A	INTRINSIC
transmembrane domain	1109	1131	N/A	INTRINSIC
low complexity region	1159	1173	N/A	INTRINSIC
low complexity region	1240	1246	N/A	INTRINSIC
low complexity region	1260	1274	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097955

SMART Domains

Protein: ENSMUSP00000095568
Gene: ENSMUSG00000028532

Domain	Start	End	E-Value	Type
low complexity region	11	24	N/A	INTRINSIC
Pfam:VWA_N	103	218	6.7e-32	PFAM
VWA	240	438	2.8e-1	SMART
Pfam:Cache_1	467	543	1.7e-12	PFAM
low complexity region	801	818	N/A	INTRINSIC
low complexity region	981	996	N/A	INTRINSIC
transmembrane domain	1109	1131	N/A	INTRINSIC
low complexity region	1159	1173	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.3%
10x: 97.9%
20x: 96.0%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	G	A	11: 84,202,129 (GRCm39)	A196T	probably damaging	Het
Adamtsl4	T	A	3: 95,591,798 (GRCm39)	R97*	probably null	Het
Adgrv1	T	C	13: 81,553,465 (GRCm39)	I5470V	probably benign	Het
Afg3l2	T	C	18: 67,538,497 (GRCm39)	T754A	possibly damaging	Het
Agfg1	T	C	1: 82,864,117 (GRCm39)	F395S	probably damaging	Het
Ahnak	A	G	19: 8,990,212 (GRCm39)		probably benign	Het
Alkbh2	T	C	5: 114,262,014 (GRCm39)	K239E	possibly damaging	Het
Ankmy1	A	T	1: 92,827,290 (GRCm39)	C87*	probably null	Het
Apob	A	G	12: 8,039,191 (GRCm39)	I461V	probably damaging	Het
Arap1	C	T	7: 101,034,121 (GRCm39)	P188S	possibly damaging	Het
Atp12a	G	A	14: 56,605,870 (GRCm39)	E64K	probably damaging	Het
Brca1	A	T	11: 101,416,192 (GRCm39)	H647Q	possibly damaging	Het
Cep57	A	T	9: 13,720,039 (GRCm39)	V429D	possibly damaging	Het
Cfap299	T	C	5: 98,714,420 (GRCm39)		probably benign	Het
Dip2a	T	C	10: 76,128,266 (GRCm39)		probably benign	Het
Dmxl2	A	T	9: 54,353,696 (GRCm39)	N757K	probably damaging	Het
Dock7	G	A	4: 98,833,432 (GRCm39)	T1953I	possibly damaging	Het
Ebf3	T	C	7: 136,826,932 (GRCm39)	T111A	probably damaging	Het
Ercc4	T	C	16: 12,948,010 (GRCm39)	I319T	probably damaging	Het
Fat1	T	C	8: 45,486,363 (GRCm39)		probably benign	Het
Gucy2g	C	T	19: 55,198,716 (GRCm39)	W809*	probably null	Het
Hhipl1	A	G	12: 108,293,980 (GRCm39)	K629E	probably benign	Het
Hmbox1	A	T	14: 65,134,223 (GRCm39)	S126T	probably benign	Het
Htr1a	A	G	13: 105,580,832 (GRCm39)	N24S	probably benign	Het
Htra3	T	A	5: 35,825,700 (GRCm39)	I185F	probably damaging	Het
Impg1	C	T	9: 80,289,023 (GRCm39)	D345N	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kdm7a	A	G	6: 39,124,128 (GRCm39)	V720A	probably benign	Het
Kirrel3	A	G	9: 34,912,293 (GRCm39)	D212G	possibly damaging	Het
Lgals3bp	A	T	11: 118,283,846 (GRCm39)	*139K	probably null	Het
Lrp11	T	A	10: 7,466,060 (GRCm39)	V82D	probably benign	Het
Mcf2l	T	C	8: 13,051,964 (GRCm39)	Y425H	probably benign	Het
Mfn2	T	C	4: 147,966,658 (GRCm39)	N511S	probably benign	Het
Mical2	T	C	7: 111,979,624 (GRCm39)	S108P	probably damaging	Het
Ms4a6c	C	T	19: 11,448,506 (GRCm39)	T13M	probably benign	Het
Naip2	C	A	13: 100,315,893 (GRCm39)	V296F	probably damaging	Het
Or2d36	T	A	7: 106,747,294 (GRCm39)	F257Y	possibly damaging	Het
Or51a5	A	G	7: 102,771,217 (GRCm39)	V254A	possibly damaging	Het
Or7e175	T	A	9: 20,048,834 (GRCm39)	C141S	probably damaging	Het
P3h2	T	C	16: 25,815,998 (GRCm39)	M172V	probably benign	Het
Pcolce2	T	G	9: 95,552,087 (GRCm39)	N73K	probably benign	Het
Pla2g4d	A	G	2: 120,111,098 (GRCm39)		probably null	Het
Ppfia3	A	G	7: 44,997,146 (GRCm39)		probably benign	Het
Ptprcap	A	G	19: 4,206,463 (GRCm39)	D182G	possibly damaging	Het
Rabgap1	T	C	2: 37,450,481 (GRCm39)		probably benign	Het
Rpain	G	A	11: 70,865,867 (GRCm39)		probably null	Het
Sdk1	C	T	5: 142,147,630 (GRCm39)	T1754I	probably damaging	Het
Stag1	T	A	9: 100,678,880 (GRCm39)	L267Q	probably damaging	Het
Tex9	T	C	9: 72,391,374 (GRCm39)	T92A	probably benign	Het
Trpa1	T	A	1: 14,968,387 (GRCm39)	I460F	possibly damaging	Het
Ttn	A	T	2: 76,780,500 (GRCm39)	Y1084N	probably damaging	Het
Utp6	A	G	11: 79,832,694 (GRCm39)		probably benign	Het
Zbtb39	C	G	10: 127,578,175 (GRCm39)	Q250E	probably benign	Het

Other mutations in Cachd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00922:Cachd1	APN	4	100,824,163 (GRCm39)	missense	probably benign	0.05
IGL01531:Cachd1	APN	4	100,810,231 (GRCm39)	missense	probably benign	0.02
IGL01705:Cachd1	APN	4	100,840,736 (GRCm39)	missense	possibly damaging	0.46
IGL01843:Cachd1	APN	4	100,850,069 (GRCm39)	missense	probably damaging	0.98
IGL01938:Cachd1	APN	4	100,831,325 (GRCm39)	missense	possibly damaging	0.59
IGL02268:Cachd1	APN	4	100,809,294 (GRCm39)	missense	possibly damaging	0.75
IGL02934:Cachd1	APN	4	100,825,295 (GRCm39)	missense	probably damaging	0.98
IGL03019:Cachd1	APN	4	100,809,282 (GRCm39)	missense	probably damaging	0.98
IGL03084:Cachd1	APN	4	100,860,285 (GRCm39)	missense	probably damaging	0.99
R0366:Cachd1	UTSW	4	100,851,934 (GRCm39)	missense	possibly damaging	0.94
R0395:Cachd1	UTSW	4	100,810,402 (GRCm39)	missense	probably damaging	1.00
R0520:Cachd1	UTSW	4	100,754,900 (GRCm39)	missense	probably damaging	0.99
R0578:Cachd1	UTSW	4	100,852,039 (GRCm39)	splice site	probably benign
R0646:Cachd1	UTSW	4	100,845,418 (GRCm39)	missense	probably damaging	1.00
R0689:Cachd1	UTSW	4	100,832,073 (GRCm39)	missense	probably damaging	1.00
R1156:Cachd1	UTSW	4	100,845,816 (GRCm39)	missense	probably damaging	1.00
R1157:Cachd1	UTSW	4	100,832,037 (GRCm39)	missense	possibly damaging	0.77
R1314:Cachd1	UTSW	4	100,832,114 (GRCm39)	missense	probably damaging	1.00
R1482:Cachd1	UTSW	4	100,845,795 (GRCm39)	missense	possibly damaging	0.94
R1632:Cachd1	UTSW	4	100,824,169 (GRCm39)	missense	probably benign	0.02
R1774:Cachd1	UTSW	4	100,824,240 (GRCm39)	missense	probably benign	0.02
R1774:Cachd1	UTSW	4	100,821,632 (GRCm39)	missense	probably damaging	1.00
R1845:Cachd1	UTSW	4	100,634,555 (GRCm39)	missense	probably benign	0.01
R1869:Cachd1	UTSW	4	100,840,587 (GRCm39)	missense	probably damaging	1.00
R1912:Cachd1	UTSW	4	100,810,366 (GRCm39)	missense	probably damaging	0.99
R2069:Cachd1	UTSW	4	100,848,041 (GRCm39)	missense	probably damaging	1.00
R2082:Cachd1	UTSW	4	100,860,155 (GRCm39)	missense	probably damaging	1.00
R2267:Cachd1	UTSW	4	100,806,266 (GRCm39)	splice site	probably benign
R2517:Cachd1	UTSW	4	100,838,079 (GRCm39)	splice site	probably null
R2896:Cachd1	UTSW	4	100,828,100 (GRCm39)	missense	probably damaging	1.00
R3729:Cachd1	UTSW	4	100,832,077 (GRCm39)	nonsense	probably null
R3818:Cachd1	UTSW	4	100,848,062 (GRCm39)	missense	probably damaging	1.00
R3979:Cachd1	UTSW	4	100,828,085 (GRCm39)	missense	probably damaging	1.00
R4647:Cachd1	UTSW	4	100,810,327 (GRCm39)	nonsense	probably null
R4791:Cachd1	UTSW	4	100,775,282 (GRCm39)	missense	probably damaging	1.00
R5133:Cachd1	UTSW	4	100,851,935 (GRCm39)	missense	probably damaging	0.98
R5147:Cachd1	UTSW	4	100,821,688 (GRCm39)	missense	probably damaging	1.00
R5187:Cachd1	UTSW	4	100,823,397 (GRCm39)	missense	possibly damaging	0.94
R5322:Cachd1	UTSW	4	100,809,319 (GRCm39)	missense	probably damaging	0.98
R5335:Cachd1	UTSW	4	100,825,282 (GRCm39)	missense	possibly damaging	0.88
R5390:Cachd1	UTSW	4	100,838,203 (GRCm39)	missense	probably damaging	1.00
R5573:Cachd1	UTSW	4	100,831,276 (GRCm39)	missense	probably damaging	0.99
R5578:Cachd1	UTSW	4	100,722,203 (GRCm39)	missense	probably benign	0.31
R5905:Cachd1	UTSW	4	100,840,753 (GRCm39)	missense	probably damaging	0.99
R6003:Cachd1	UTSW	4	100,809,216 (GRCm39)	missense	possibly damaging	0.79
R6028:Cachd1	UTSW	4	100,840,753 (GRCm39)	missense	probably damaging	0.99
R6185:Cachd1	UTSW	4	100,838,228 (GRCm39)	nonsense	probably null
R6367:Cachd1	UTSW	4	100,860,167 (GRCm39)	missense	probably damaging	1.00
R6492:Cachd1	UTSW	4	100,809,315 (GRCm39)	missense	possibly damaging	0.89
R6591:Cachd1	UTSW	4	100,846,683 (GRCm39)	missense	probably benign
R6691:Cachd1	UTSW	4	100,846,683 (GRCm39)	missense	probably benign
R7129:Cachd1	UTSW	4	100,775,263 (GRCm39)	missense	probably null	0.99
R7187:Cachd1	UTSW	4	100,833,552 (GRCm39)	missense	possibly damaging	0.95
R7387:Cachd1	UTSW	4	100,634,375 (GRCm39)	missense	unknown
R7833:Cachd1	UTSW	4	100,832,012 (GRCm39)	missense	probably benign	0.09
R7835:Cachd1	UTSW	4	100,831,350 (GRCm39)	splice site	probably null
R7838:Cachd1	UTSW	4	100,824,211 (GRCm39)	missense	possibly damaging	0.71
R7867:Cachd1	UTSW	4	100,845,759 (GRCm39)	missense	probably damaging	0.97
R7882:Cachd1	UTSW	4	100,824,244 (GRCm39)	missense	probably benign	0.29
R7941:Cachd1	UTSW	4	100,845,370 (GRCm39)	missense	probably damaging	1.00
R7978:Cachd1	UTSW	4	100,832,060 (GRCm39)	missense	probably damaging	1.00
R8085:Cachd1	UTSW	4	100,845,361 (GRCm39)	missense	probably damaging	1.00
R8153:Cachd1	UTSW	4	100,845,835 (GRCm39)	critical splice donor site	probably null
R8174:Cachd1	UTSW	4	100,823,466 (GRCm39)	missense	probably damaging	0.99
R8219:Cachd1	UTSW	4	100,848,159 (GRCm39)	missense	probably benign	0.34
R8358:Cachd1	UTSW	4	100,816,668 (GRCm39)	missense	possibly damaging	0.94
R8376:Cachd1	UTSW	4	100,832,073 (GRCm39)	missense	probably damaging	0.99
R8686:Cachd1	UTSW	4	100,845,325 (GRCm39)	missense	probably damaging	0.99
R8747:Cachd1	UTSW	4	100,860,045 (GRCm39)	intron	probably benign
R8845:Cachd1	UTSW	4	100,810,343 (GRCm39)	missense	probably benign	0.36
R8864:Cachd1	UTSW	4	100,852,026 (GRCm39)	missense	probably damaging	0.99
R8869:Cachd1	UTSW	4	100,809,280 (GRCm39)	missense	probably benign	0.09
R8870:Cachd1	UTSW	4	100,754,978 (GRCm39)	missense	probably damaging	0.99
R8904:Cachd1	UTSW	4	100,810,363 (GRCm39)	missense	probably damaging	1.00
R8958:Cachd1	UTSW	4	100,851,283 (GRCm39)	missense	probably benign	0.11
R9061:Cachd1	UTSW	4	100,809,202 (GRCm39)	critical splice acceptor site	probably null
R9193:Cachd1	UTSW	4	100,634,339 (GRCm39)	missense	unknown
R9304:Cachd1	UTSW	4	100,824,179 (GRCm39)	missense	possibly damaging	0.81
R9358:Cachd1	UTSW	4	100,833,622 (GRCm39)	missense	probably damaging	0.99
R9373:Cachd1	UTSW	4	100,832,067 (GRCm39)	missense	possibly damaging	0.94
R9425:Cachd1	UTSW	4	100,832,057 (GRCm39)	missense	probably benign
R9632:Cachd1	UTSW	4	100,832,092 (GRCm39)	missense	probably benign	0.34
R9710:Cachd1	UTSW	4	100,832,092 (GRCm39)	missense	probably benign	0.34
R9751:Cachd1	UTSW	4	100,823,438 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- GTGACCACAGAGCTATGTGTTCTTACC -3'
(R):5'- GTTCAGGATATCATTTGCTACCAGGGG -3'

Sequencing Primer
(F):5'- GTTCTTACCATAACCTGGAGGC -3'
(R):5'- GCTCCTGACAAGGCCAC -3'

Posted On

2013-11-07