Mutagenetix > Incidental Mutation

Incidental Mutation 'R5390:Cachd1'

425508

Institutional Source

Beutler Lab

Gene Symbol

Cachd1

Ensembl Gene

ENSMUSG00000028532

Gene Name

cache domain containing 1

Synonyms

Vwcd1, 1190007F10Rik, B430218L07Rik

MMRRC Submission

042962-MU

Accession Numbers

Essential gene?

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

Stock #

R5390 (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 100838203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 822 (M822K)

Ref Sequence

ENSEMBL: ENSMUSP00000095568 (fasta)

Gene Model

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

AlphaFold

Q6PDJ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030257
AA Change: M822K

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000030257
Gene: ENSMUSG00000028532
AA Change: M822K

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: M822K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000095568
Gene: ENSMUSG00000028532
AA Change: M822K

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830454E08Rik	T	C	9: 120,406,772 (GRCm39)		probably benign	Het
Anxa4	G	A	6: 86,730,865 (GRCm39)	T104M	probably damaging	Het
BC048562	G	T	9: 108,313,777 (GRCm39)	W9L	probably damaging	Het
Clec4g	C	A	8: 3,768,441 (GRCm39)	V97L	probably benign	Het
Ddx19a	G	A	8: 111,707,263 (GRCm39)	Q176*	probably null	Het
Eml6	T	C	11: 29,710,096 (GRCm39)	H1413R	probably damaging	Het
Fam161b	C	T	12: 84,395,408 (GRCm39)	V512M	probably damaging	Het
Glcci1	A	T	6: 8,537,835 (GRCm39)	Q151L	probably benign	Het
Gm10801	TC	TCGAC	2: 98,494,151 (GRCm39)		probably benign	Het
Gpnmb	A	T	6: 49,024,775 (GRCm39)	D269V	probably damaging	Het
Gpx3	A	T	11: 54,800,375 (GRCm39)	D191V	probably damaging	Het
Grm4	C	T	17: 27,653,712 (GRCm39)	C491Y	probably damaging	Het
H2-M10.4	T	A	17: 36,771,533 (GRCm39)	H215L	probably damaging	Het
Hrc	T	A	7: 44,984,909 (GRCm39)	L20Q	probably damaging	Het
Hsd17b6	T	A	10: 127,827,308 (GRCm39)	M255L	probably benign	Het
Hydin	A	T	8: 111,322,099 (GRCm39)	I4584L	probably benign	Het
Ift70a2	A	T	2: 75,807,630 (GRCm39)	L294Q	probably damaging	Het
Ints5	T	A	19: 8,873,931 (GRCm39)	I630K	possibly damaging	Het
Kctd10	A	G	5: 114,503,764 (GRCm39)	I296T	possibly damaging	Het
Ltv1	G	A	10: 13,058,103 (GRCm39)	R234C	probably damaging	Het
Macf1	A	G	4: 123,365,546 (GRCm39)	S1507P	probably damaging	Het
Megf8	G	A	7: 25,039,714 (GRCm39)	G936D	possibly damaging	Het
Ms4a4d	T	C	19: 11,526,004 (GRCm39)		probably null	Het
Net1	C	T	13: 3,943,379 (GRCm39)	A3T	probably benign	Het
Nlrp2	T	C	7: 5,303,908 (GRCm39)	M206V	probably benign	Het
Or1j1	C	T	2: 36,702,444 (GRCm39)	R220H	probably benign	Het
Or5an1b	T	A	19: 12,299,505 (GRCm39)	I229F	probably damaging	Het
Pcyox1l	T	C	18: 61,832,433 (GRCm39)	I205V	probably benign	Het
Pigo	A	G	4: 43,019,645 (GRCm39)		probably null	Het
Pla2g6	A	T	15: 79,173,893 (GRCm39)	S590T	possibly damaging	Het
Pwp2	T	C	10: 78,013,605 (GRCm39)	T539A	possibly damaging	Het
Rag1	T	C	2: 101,473,079 (GRCm39)	T688A	probably benign	Het
Senp7	A	G	16: 55,990,279 (GRCm39)	T676A	probably benign	Het
Slc26a6	T	C	9: 108,738,499 (GRCm39)		probably benign	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Sorbs2	A	G	8: 46,272,778 (GRCm39)	H653R	probably damaging	Het
Stk3	T	A	15: 35,114,706 (GRCm39)	K67*	probably null	Het
Tctn2	A	ACC	5: 124,762,400 (GRCm39)		probably benign	Homo
Ttn	T	C	2: 76,540,395 (GRCm39)	Y34197C	probably damaging	Het
Ufc1	A	C	1: 171,117,746 (GRCm39)	L56R	probably damaging	Het
Usp34	T	A	11: 23,394,202 (GRCm39)		probably null	Het
Vnn3	T	A	10: 23,727,483 (GRCm39)	M1K	probably null	Het
Zfp653	C	A	9: 21,969,099 (GRCm39)		probably null	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
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'- CAACTGTTCATGTTAGCACTGG -3'
(R):5'- ACACATCTCCTGTCTCGACG -3'

Sequencing Primer
(F):5'- GCACTGGTCTTGTTCAAAAAGCC -3'
(R):5'- GCGGTCCACACCTAGTACTG -3'

Posted On

2016-08-04