Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03084:Cachd1'

418018

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cachd1

Ensembl Gene

ENSMUSG00000028532

Gene Name

cache domain containing 1

Synonyms

Vwcd1, 1190007F10Rik, B430218L07Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

IGL03084

Quality Score

Status

Chromosome

Chromosomal Location

100633870-100861741 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100860285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1285 (D1285E)

Ref Sequence

ENSEMBL: ENSMUSP00000030257 (fasta)

Gene Model

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

AlphaFold

Q6PDJ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000030257
AA Change: D1285E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030257
Gene: ENSMUSG00000028532
AA Change: D1285E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123475

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136430

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	G	T	8: 111,768,261 (GRCm39)	V211L	probably damaging	Het
BC024139	T	C	15: 76,004,007 (GRCm39)	D753G	probably benign	Het
Brpf3	A	G	17: 29,054,751 (GRCm39)	M1098V	probably damaging	Het
Cacna1b	T	C	2: 24,499,944 (GRCm39)	T147A	probably benign	Het
Cdc14a	A	G	3: 116,142,101 (GRCm39)		probably null	Het
Cfhr4	T	A	1: 139,708,880 (GRCm39)	L9F	possibly damaging	Het
Chd1	A	G	17: 15,990,560 (GRCm39)	H1704R	probably benign	Het
Dmkn	T	G	7: 30,470,481 (GRCm39)	N367K	possibly damaging	Het
Fam151b	C	A	13: 92,604,534 (GRCm39)	D152Y	probably damaging	Het
Gabrg3	T	C	7: 56,384,812 (GRCm39)	S250G	possibly damaging	Het
Gm28042	A	G	2: 119,870,986 (GRCm39)	Q833R	probably benign	Het
Gnpat	A	C	8: 125,605,638 (GRCm39)	Y336S	probably damaging	Het
Ighv1-54	G	A	12: 115,157,736 (GRCm39)		probably benign	Het
Irag1	A	G	7: 110,485,036 (GRCm39)		probably benign	Het
Kif2c	T	C	4: 117,035,355 (GRCm39)	N31S	possibly damaging	Het
Larp1	T	A	11: 57,947,921 (GRCm39)	L939Q	probably damaging	Het
Lrrc69	G	A	4: 14,708,631 (GRCm39)	P238S	probably damaging	Het
Lypd10	T	C	7: 24,413,605 (GRCm39)	I207T	possibly damaging	Het
Lztfl1	C	T	9: 123,538,641 (GRCm39)	G152E	probably damaging	Het
Man2a2	T	C	7: 80,002,691 (GRCm39)	T1097A	possibly damaging	Het
Myh4	A	G	11: 67,142,777 (GRCm39)		probably null	Het
Nab2	C	T	10: 127,500,346 (GRCm39)	V249M	probably damaging	Het
Nid2	A	T	14: 19,819,000 (GRCm39)	D498V	probably benign	Het
Nrap	T	C	19: 56,353,886 (GRCm39)	T404A	probably damaging	Het
Or51i1	A	G	7: 103,670,838 (GRCm39)	V229A	probably benign	Het
Or5al7	A	T	2: 85,992,569 (GRCm39)	C241*	probably null	Het
Or5c1	T	C	2: 37,222,413 (GRCm39)	I218T	probably damaging	Het
Or8c9	T	G	9: 38,241,513 (GRCm39)	I210S	probably damaging	Het
Pard3	A	G	8: 128,319,573 (GRCm39)	I1104V	probably damaging	Het
Pcna	C	T	2: 132,093,673 (GRCm39)	E109K	probably benign	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Ppfia3	A	G	7: 44,989,651 (GRCm39)	V1187A	probably benign	Het
Ppp1r16b	G	A	2: 158,603,413 (GRCm39)	W346*	probably null	Het
Rpl4	A	G	9: 64,085,599 (GRCm39)		probably benign	Het
Scn8a	A	T	15: 100,915,053 (GRCm39)	I1206F	probably damaging	Het
Slc5a2	T	C	7: 127,865,776 (GRCm39)	S61P	probably benign	Het
Smarcal1	T	C	1: 72,638,094 (GRCm39)		probably null	Het
Smyd4	A	G	11: 75,281,433 (GRCm39)	H302R	probably benign	Het
Sntb1	A	G	15: 55,655,487 (GRCm39)	I243T	probably damaging	Het
Stx8	C	T	11: 67,911,782 (GRCm39)	Q167*	probably null	Het
Sycp2	C	A	2: 178,033,584 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,626,742 (GRCm39)	V13088D	probably damaging	Het
Ugt2b1	T	A	5: 87,074,243 (GRCm39)	M39L	probably benign	Het
Utp6	A	T	11: 79,853,042 (GRCm39)		probably null	Het
Vmn1r189	A	T	13: 22,286,008 (GRCm39)	Y276*	probably null	Het
Vmn2r11	T	A	5: 109,207,209 (GRCm39)	D37V	probably benign	Het
Vmn2r16	T	G	5: 109,478,292 (GRCm39)	F16V	probably damaging	Het
Vmn2r65	A	T	7: 84,592,354 (GRCm39)	M538K	probably damaging	Het
Zfp143	T	A	7: 109,668,818 (GRCm39)		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
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	100,824,240 (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

Posted On

2016-08-02