Mutagenetix > Incidental Mutation

Incidental Mutation 'R4791:Cachd1'

368548

Institutional Source

Beutler Lab

Gene Symbol

Cachd1

Ensembl Gene

ENSMUSG00000028532

Gene Name

cache domain containing 1

Synonyms

Vwcd1, 1190007F10Rik, B430218L07Rik

MMRRC Submission

041976-MU

Accession Numbers

Essential gene?

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

Stock #

R4791 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100633870-100861741 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100775282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 166 (C166S)

Ref Sequence

ENSEMBL: ENSMUSP00000095568 (fasta)

Gene Model

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

AlphaFold

Q6PDJ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000030257
AA Change: C166S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030257
Gene: ENSMUSG00000028532
AA Change: C166S

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 damaging
Transcript: ENSMUST00000097955
AA Change: C166S

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

SMART Domains

Protein: ENSMUSP00000095568
Gene: ENSMUSG00000028532
AA Change: C166S

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	C	T	7: 45,631,584 (GRCm39)	V1231M	probably benign	Het
Agl	A	G	3: 116,580,177 (GRCm39)		probably null	Het
Ak7	T	C	12: 105,676,404 (GRCm39)	F35L	probably benign	Het
Aldh1a1	A	G	19: 20,597,349 (GRCm39)	N110S	probably damaging	Het
Arhgef5	C	T	6: 43,260,117 (GRCm39)	L1368F	probably damaging	Het
Atp5mf	T	C	5: 145,121,365 (GRCm39)	Y72C	possibly damaging	Het
Atp6v0a2	T	G	5: 124,784,667 (GRCm39)	F317V	probably benign	Het
Bank1	A	T	3: 135,960,690 (GRCm39)	S56T	probably benign	Het
Cand1	A	G	10: 119,046,607 (GRCm39)	I961T	probably benign	Het
Ccdc73	G	A	2: 104,811,450 (GRCm39)		probably null	Het
Cct6b	A	T	11: 82,632,830 (GRCm39)		probably null	Het
Chd2	A	C	7: 73,118,325 (GRCm39)	S1098A	probably benign	Het
Col6a4	A	T	9: 105,957,401 (GRCm39)	V141E	possibly damaging	Het
Col6a5	T	C	9: 105,807,983 (GRCm39)	T1022A	unknown	Het
Cr2	A	T	1: 194,838,243 (GRCm39)	C698S	probably damaging	Het
Dnaaf5	C	A	5: 139,170,405 (GRCm39)	Q786K	possibly damaging	Het
Dnah6	T	C	6: 73,072,057 (GRCm39)	D2423G	probably benign	Het
Dnhd1	T	C	7: 105,370,324 (GRCm39)	F4583S	probably damaging	Het
Duoxa2	A	T	2: 122,131,679 (GRCm39)	T123S	probably damaging	Het
Edem1	T	G	6: 108,818,595 (GRCm39)	V201G	probably damaging	Het
Eef1d	C	T	15: 75,775,531 (GRCm39)	A43T	possibly damaging	Het
Elavl3	T	C	9: 21,935,974 (GRCm39)	K249E	probably damaging	Het
Epg5	G	T	18: 77,992,211 (GRCm39)	E303*	probably null	Het
Fam83h	T	C	15: 75,874,217 (GRCm39)	D1040G	probably damaging	Het
Fndc7	A	T	3: 108,783,975 (GRCm39)	F211L	probably benign	Het
Fsip2	A	G	2: 82,812,452 (GRCm39)	T2924A	possibly damaging	Het
Gm5616	T	C	9: 48,361,983 (GRCm39)		noncoding transcript	Het
Gpr135	T	A	12: 72,116,642 (GRCm39)	D375V	probably benign	Het
Hgd	A	G	16: 37,452,187 (GRCm39)	*446W	probably null	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Htra2	A	G	6: 83,028,798 (GRCm39)	L379P	probably damaging	Het
Hypk	G	T	2: 121,288,136 (GRCm39)		probably null	Het
Ica1l	A	G	1: 60,049,360 (GRCm39)	F198L	probably damaging	Het
Igsf11	G	A	16: 38,845,226 (GRCm39)	S319N	probably damaging	Het
Il12rb1	T	C	8: 71,266,012 (GRCm39)	S213P	possibly damaging	Het
Katnal1	C	T	5: 148,841,460 (GRCm39)	V135M	probably damaging	Het
Kcnc4	G	A	3: 107,354,859 (GRCm39)	P530S	probably benign	Het
Kcnu1	T	C	8: 26,403,780 (GRCm39)	Y24H	probably damaging	Het
Kdm5b	A	G	1: 134,558,538 (GRCm39)	E1515G	possibly damaging	Het
Kif18a	A	T	2: 109,118,220 (GRCm39)	M12L	probably benign	Het
Klre1	T	C	6: 129,561,118 (GRCm39)	S160P	probably damaging	Het
Lama2	A	T	10: 27,343,267 (GRCm39)	H68Q	probably damaging	Het
Lgals8	T	C	13: 12,468,203 (GRCm39)	K49R	possibly damaging	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Lsr	T	C	7: 30,657,977 (GRCm39)	T328A	probably damaging	Het
Mark4	C	T	7: 19,185,582 (GRCm39)	E51K	probably benign	Het
Mindy2	T	C	9: 70,541,283 (GRCm39)		probably null	Het
Mkks	G	A	2: 136,718,082 (GRCm39)	T400I	probably benign	Het
Mon2	T	A	10: 122,841,962 (GRCm39)	M1544L	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Myo5c	T	G	9: 75,198,198 (GRCm39)	L1341R	probably damaging	Het
Nin	T	C	12: 70,090,581 (GRCm39)	R945G	possibly damaging	Het
Nox4	T	C	7: 86,954,055 (GRCm39)	V120A	probably benign	Het
Or1s2	T	A	19: 13,758,706 (GRCm39)	C243*	probably null	Het
Or2aj4	G	T	16: 19,385,413 (GRCm39)	H73Q	possibly damaging	Het
Or2z2	A	T	11: 58,346,370 (GRCm39)	V135E	possibly damaging	Het
Or4a66	C	T	2: 88,531,242 (GRCm39)	V144I	probably benign	Het
Or7g29	T	C	9: 19,287,105 (GRCm39)	E24G	probably benign	Het
Plekha2	T	A	8: 25,532,778 (GRCm39)	R398W	probably damaging	Het
Pradc1	A	G	6: 85,424,173 (GRCm39)	W58R	probably damaging	Het
Pramel20	A	G	4: 143,297,559 (GRCm39)		probably benign	Het
Prrc2b	A	G	2: 32,107,351 (GRCm39)		probably null	Het
Psg19	T	A	7: 18,528,071 (GRCm39)	N224I	probably damaging	Het
Ranbp17	A	C	11: 33,437,746 (GRCm39)	V164G	probably benign	Het
Rasgrp3	A	G	17: 75,807,168 (GRCm39)	S211G	probably benign	Het
Rcc1l	G	A	5: 134,192,615 (GRCm39)	P270S	possibly damaging	Het
Rfx6	T	A	10: 51,596,040 (GRCm39)		probably null	Het
Rnf222	A	T	11: 68,783,845 (GRCm39)	E137D	probably damaging	Het
Selenof	T	G	3: 144,302,584 (GRCm39)	Y120D	probably damaging	Het
Sema3b	G	T	9: 107,481,012 (GRCm39)	D108E	probably damaging	Het
Shank3	T	A	15: 89,384,557 (GRCm39)	L143Q	probably damaging	Het
Shtn1	G	C	19: 59,039,305 (GRCm39)	R45G	probably damaging	Het
Sirt4	T	C	5: 115,618,373 (GRCm39)	T234A	possibly damaging	Het
Slc25a30	C	A	14: 76,000,806 (GRCm39)	W266L	probably benign	Het
Spata20	A	T	11: 94,375,412 (GRCm39)	N127K	probably damaging	Het
Spmip4	G	T	6: 50,572,817 (GRCm39)	P32Q	probably damaging	Het
St14	C	T	9: 31,006,918 (GRCm39)	G636D	probably benign	Het
Stat5a	G	A	11: 100,756,289 (GRCm39)	E170K	probably damaging	Het
Sugp2	C	T	8: 70,695,440 (GRCm39)	R138C	probably damaging	Het
Sult1e1	C	A	5: 87,734,589 (GRCm39)	W119L	possibly damaging	Het
Sv2a	T	C	3: 96,099,874 (GRCm39)	V608A	possibly damaging	Het
Syne2	T	C	12: 75,956,018 (GRCm39)	Y575H	possibly damaging	Het
Taok2	G	A	7: 126,467,304 (GRCm39)	S167L	possibly damaging	Het
Thoc6	T	C	17: 23,889,041 (GRCm39)	H151R	possibly damaging	Het
Tm9sf2	T	C	14: 122,377,062 (GRCm39)	S197P	probably benign	Het
Tmem260	CAGGGACCGGCATAG	CAG	14: 48,749,451 (GRCm39)		probably benign	Het
Tmx2	G	A	2: 84,508,340 (GRCm39)	P15L	probably damaging	Het
Top1mt	C	T	15: 75,540,474 (GRCm39)		probably null	Het
Trpm6	T	A	19: 18,845,345 (GRCm39)	S1682T	probably benign	Het
Trrap	C	T	5: 144,740,087 (GRCm39)	R1171W	probably damaging	Het
Ugt3a1	A	G	15: 9,361,665 (GRCm39)	D147G	probably damaging	Het
Utp25	G	A	1: 192,810,575 (GRCm39)	H143Y	probably benign	Het
Vnn3	A	G	10: 23,740,519 (GRCm39)	H274R	probably benign	Het
Vwf	C	A	6: 125,620,326 (GRCm39)	T1668K		Het
Zfp568	T	C	7: 29,714,608 (GRCm39)	S162P	probably damaging	Het
Zfp658	T	A	7: 43,223,890 (GRCm39)	C722S	possibly damaging	Het
Zfp808	T	A	13: 62,319,045 (GRCm39)	H91Q	probably damaging	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
R0962:Cachd1	UTSW	4	100,840,498 (GRCm39)	splice site	probably benign
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	100,821,632 (GRCm39)	missense	probably damaging	1.00
R1774:Cachd1	UTSW	4	100,824,240 (GRCm39)	missense	probably benign	0.02
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
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'- ACCATTCTCCTGCTTGTGGG -3'
(R):5'- ATACATGCCTACTTGATGATCTTCC -3'

Sequencing Primer
(F):5'- GCTGGCCTAGTCATACATGAAATG -3'
(R):5'- TCCTACAGAGTTAACCTTCTCAAG -3'

Posted On

2016-02-04