Mutagenetix > Incidental Mutation

Incidental Mutation 'R8864:Cachd1'

675805

Institutional Source

Beutler Lab

Gene Symbol

Cachd1

Ensembl Gene

ENSMUSG00000028532

Gene Name

cache domain containing 1

Synonyms

Vwcd1, 1190007F10Rik, B430218L07Rik

MMRRC Submission

068680-MU

Accession Numbers

Essential gene?

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

Stock #

R8864 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100633870-100861741 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100852026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 1207 (S1207R)

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: S1207R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030257
Gene: ENSMUSG00000028532
AA Change: S1207R

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: S1207R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095568
Gene: ENSMUSG00000028532
AA Change: S1207R

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

Meta Mutation Damage Score

0.5363

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	A	18: 59,023,497 (GRCm39)	C297*	probably null	Het
Adamts3	T	C	5: 89,854,981 (GRCm39)		probably benign	Het
Best2	T	A	8: 85,735,942 (GRCm39)	M331L	probably benign	Het
Cacna2d3	G	T	14: 29,055,735 (GRCm39)	N298K	probably damaging	Het
Cyp2j12	T	C	4: 96,009,750 (GRCm39)	Y203C	probably damaging	Het
Dnah8	T	C	17: 30,981,616 (GRCm39)	I3046T	possibly damaging	Het
Eif3b	T	C	5: 140,412,287 (GRCm39)	V252A	probably benign	Het
Ergic2	A	G	6: 148,083,393 (GRCm39)	V355A	probably benign	Het
F13a1	C	T	13: 37,061,753 (GRCm39)	G670D	probably damaging	Het
Gfpt1	T	A	6: 87,031,605 (GRCm39)	D82E	probably benign	Het
Ggnbp2	G	A	11: 84,730,902 (GRCm39)	R376C	probably damaging	Het
Grn	T	C	11: 102,327,211 (GRCm39)	F191L	unknown	Het
Ighv1-16	C	T	12: 114,629,619 (GRCm39)	G56D	probably benign	Het
Jrkl	T	C	9: 13,244,326 (GRCm39)	D445G	probably benign	Het
Loxl3	A	G	6: 83,012,739 (GRCm39)	T93A	probably damaging	Het
Lrp1b	C	T	2: 41,002,718 (GRCm39)	A2094T		Het
Lrriq3	T	A	3: 154,893,575 (GRCm39)	D425E	probably damaging	Het
Majin	T	C	19: 6,261,650 (GRCm39)	V55A	possibly damaging	Het
Mapk8ip3	A	T	17: 25,118,492 (GRCm39)	V1192E	probably damaging	Het
Mdga1	T	C	17: 30,150,295 (GRCm39)	S106G	unknown	Het
Mtch2	C	T	2: 90,685,274 (GRCm39)	R135*	probably null	Het
Naip1	T	C	13: 100,562,828 (GRCm39)	N779S	possibly damaging	Het
Nfia	T	C	4: 97,951,382 (GRCm39)	V403A	possibly damaging	Het
Npas4	C	A	19: 5,038,556 (GRCm39)	D121Y	probably damaging	Het
Rab3gap1	C	T	1: 127,837,630 (GRCm39)	R231W	probably damaging	Het
Rangap1	C	G	15: 81,610,270 (GRCm39)		probably benign	Het
Rgs5	T	A	1: 169,517,990 (GRCm39)	F75I	probably benign	Het
Rnf19a	T	C	15: 36,265,452 (GRCm39)	D215G	possibly damaging	Het
Rwdd4a	A	T	8: 48,000,876 (GRCm39)		probably benign	Het
Setd5	G	A	6: 113,088,469 (GRCm39)	R199H	probably damaging	Het
Spata31e1	T	C	13: 49,940,988 (GRCm39)	N241D	probably benign	Het
Spef2	T	C	15: 9,599,833 (GRCm39)	Q2004R	unknown	Het
Syne1	T	C	10: 5,370,473 (GRCm39)	K236E	probably benign	Het
Tas2r104	A	G	6: 131,662,632 (GRCm39)	F26L	possibly damaging	Het
Tbc1d32	T	A	10: 55,963,655 (GRCm39)	E954D	probably benign	Het
Tenm2	A	C	11: 35,918,022 (GRCm39)	S1914A	possibly damaging	Het
Tln2	G	T	9: 67,237,834 (GRCm39)	Y32*	probably null	Het
Tnc	C	T	4: 63,911,296 (GRCm39)	R1425H	probably damaging	Het
Unc13b	T	C	4: 43,174,724 (GRCm39)	C1851R	unknown	Het
Wapl	T	A	14: 34,414,159 (GRCm39)	D340E	probably benign	Het
Zfp74	T	C	7: 29,634,235 (GRCm39)	E491G	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
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
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'- CTAACTTCTGAAAGACTGACCCTTCC -3'
(R):5'- AGGGCCCTTTAGCTTGACAC -3'

Sequencing Primer
(F):5'- TGACCCTTCCAACACGTGAG -3'
(R):5'- AGCTTGACACTTTTCTCAAACCATG -3'

Posted On

2021-07-15