Mutagenetix > Incidental Mutation

Incidental Mutation 'R8032:Kash5'

618023

Institutional Source

Beutler Lab

Gene Symbol

Kash5

Ensembl Gene

ENSMUSG00000038292

Gene Name

KASH domain containing 5

Synonyms

Ccdc155, LOC384619

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8032 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

44833048-44854316 bp(-) (GRCm39)

Type of Mutation

small insertion (2 aa in frame mutation)

DNA Base Change (assembly)

TCAGGC to TCAGGCACAGGC at 44837630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113616 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121017]

AlphaFold

Q80VJ8

Predicted Effect

probably benign
Transcript: ENSMUST00000121017

SMART Domains

Protein: ENSMUSP00000113616
Gene: ENSMUSG00000038292

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
Pfam:EF-hand_9	108	175	8e-31	PFAM
Pfam:KASH_CCD	227	419	2.4e-90	PFAM
low complexity region	472	498	N/A	INTRINSIC
low complexity region	607	633	N/A	INTRINSIC
low complexity region	638	647	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice are infertile. Females have small ovaries and lack ovarian follicles. Males exhibit small testes and seminiferous tubules, lack of mature sperm, increased testis apoptosis, and meiotic arrest along with limited homologous chromosome pairing and unresolved double-strand breaks. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt2	T	A	4: 154,751,955 (GRCm39)	E60D	probably benign	Het
Adamts12	T	C	15: 11,259,189 (GRCm39)		probably null	Het
Ak9	T	A	10: 41,300,616 (GRCm39)	C1609S	unknown	Het
Aox1	A	T	1: 58,389,442 (GRCm39)	Y1147F	probably benign	Het
Atf7ip	T	C	6: 136,542,110 (GRCm39)	F615L	probably benign	Het
BC005624	A	G	2: 30,865,901 (GRCm39)		probably null	Het
BC024063	T	A	10: 81,943,738 (GRCm39)	M33K	probably benign	Het
Bmpr2	T	A	1: 59,906,502 (GRCm39)	S532T	probably benign	Het
Cast	G	A	13: 74,883,360 (GRCm39)	Q292*	probably null	Het
Ccdc7a	G	T	8: 129,551,864 (GRCm39)	H1249N	unknown	Het
Cd177	C	T	7: 24,455,594 (GRCm39)	W309*	probably null	Het
Col15a1	T	C	4: 47,288,108 (GRCm39)	I4T	unknown	Het
Cyp2c39	A	G	19: 39,499,426 (GRCm39)	I38V	probably benign	Het
Dmpk	A	G	7: 18,821,978 (GRCm39)	D312G	possibly damaging	Het
Dnah1	T	C	14: 30,993,505 (GRCm39)	D2892G	probably damaging	Het
Dnah10	G	A	5: 124,823,676 (GRCm39)	D566N	probably damaging	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Exd2	T	A	12: 80,536,427 (GRCm39)	D352E	probably benign	Het
Fgf8	A	T	19: 45,725,676 (GRCm39)	L187Q	probably damaging	Het
Frrs1	A	G	3: 116,672,009 (GRCm39)	I36V	probably benign	Het
Gga2	A	T	7: 121,620,210 (GRCm39)		probably null	Het
Gigyf2	C	G	1: 87,334,735 (GRCm39)	H249D	unknown	Het
Gli2	A	T	1: 118,763,900 (GRCm39)	M1417K	probably damaging	Het
Gm10801	C	CGTA	2: 98,494,152 (GRCm39)		probably null	Het
Gm49380	A	T	9: 44,023,000 (GRCm39)	I416N	probably damaging	Het
Gpr137	T	C	19: 6,919,480 (GRCm39)	T16A	unknown	Het
Grid1	T	A	14: 35,045,316 (GRCm39)	D386E	probably benign	Het
Grm3	A	G	5: 9,562,272 (GRCm39)	V526A	probably benign	Het
Havcr2	A	T	11: 46,370,118 (GRCm39)	I231F	probably damaging	Het
Icam5	C	A	9: 20,944,514 (GRCm39)	R72S	probably benign	Het
Ighv9-2	T	A	12: 114,072,764 (GRCm39)	I70L	possibly damaging	Het
Inpp5e	C	T	2: 26,286,865 (GRCm39)	S119N		Het
Kxd1	T	A	8: 70,966,791 (GRCm39)	D110V	possibly damaging	Het
Mbd4	A	G	6: 115,821,594 (GRCm39)	S474P	probably damaging	Het
Meaf6	C	A	4: 124,996,795 (GRCm39)	H168Q	unknown	Het
Nek2	T	C	1: 191,558,457 (GRCm39)	L254S	probably damaging	Het
Nhej1	T	C	1: 75,007,959 (GRCm39)	D104G	probably benign	Het
Nmnat3	A	G	9: 98,292,271 (GRCm39)	E172G	probably benign	Het
Npm3	A	T	19: 45,736,682 (GRCm39)	D152E	probably benign	Het
Nsd1	A	T	13: 55,458,196 (GRCm39)	K2103M	probably damaging	Het
Ntrk3	C	T	7: 78,005,807 (GRCm39)	R518H	probably damaging	Het
Nup210	T	A	6: 91,051,331 (GRCm39)	T351S	probably benign	Het
Or10h5	T	A	17: 33,434,924 (GRCm39)	R131S	possibly damaging	Het
Or9g19	A	G	2: 85,600,210 (GRCm39)	I22V	probably benign	Het
Otof	T	A	5: 30,619,142 (GRCm39)	M1L	probably benign	Het
Pacs2	T	A	12: 113,025,278 (GRCm39)	Y477N	probably damaging	Het
Panx3	A	G	9: 37,572,966 (GRCm39)	Y195H	probably damaging	Het
Pcsk5	T	C	19: 17,692,151 (GRCm39)	R178G	probably damaging	Het
Pde7a	A	G	3: 19,314,429 (GRCm39)	S56P	possibly damaging	Het
Prcp	T	G	7: 92,577,906 (GRCm39)	C392G	probably damaging	Het
Prkdc	A	G	16: 15,597,315 (GRCm39)	K2825R	probably benign	Het
Ptpn12	T	C	5: 21,203,041 (GRCm39)	H579R	probably benign	Het
Rbl1	A	T	2: 157,029,918 (GRCm39)	Y468*	probably null	Het
Rbmxl2	A	G	7: 106,809,429 (GRCm39)	Y238C	probably damaging	Het
Scgb2b20	A	T	7: 33,065,724 (GRCm39)	M1K	probably null	Het
Slc25a18	G	A	6: 120,769,452 (GRCm39)	G237D	probably damaging	Het
Slc9a3	G	A	13: 74,305,763 (GRCm39)	G260D	probably damaging	Het
Sorcs1	A	T	19: 50,463,846 (GRCm39)	S201R	probably benign	Het
Strip1	A	C	3: 107,525,394 (GRCm39)	D547E	probably damaging	Het
Thsd7a	C	T	6: 12,555,287 (GRCm39)	C199Y		Het
Top1mt	A	G	15: 75,540,572 (GRCm39)	V233A	probably damaging	Het
Tpp2	C	G	1: 44,014,628 (GRCm39)	P656A	possibly damaging	Het
Ttc1	A	T	11: 43,628,806 (GRCm39)	L193Q	probably damaging	Het
Ttll4	T	A	1: 74,735,632 (GRCm39)	D1013E	possibly damaging	Het
Unc5a	T	C	13: 55,144,299 (GRCm39)	V208A	possibly damaging	Het
Vmn1r185	C	A	7: 26,310,558 (GRCm39)	V316F	probably benign	Het
Vmn2r112	T	A	17: 22,822,375 (GRCm39)	V351E	probably benign	Het
Wdfy4	T	A	14: 32,751,043 (GRCm39)	K2391*	probably null	Het
Zfhx3	T	C	8: 109,677,854 (GRCm39)	V2968A	possibly damaging	Het
Zfp551	G	A	7: 12,152,487 (GRCm39)	A82V	possibly damaging	Het

Other mutations in Kash5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00922:Kash5	APN	7	44,834,730 (GRCm39)	missense	possibly damaging	0.72
IGL01120:Kash5	APN	7	44,833,622 (GRCm39)	missense	probably damaging	0.99
IGL01620:Kash5	APN	7	44,839,384 (GRCm39)	missense	probably damaging	0.98
IGL01643:Kash5	APN	7	44,849,710 (GRCm39)	missense	probably damaging	0.99
IGL02528:Kash5	APN	7	44,833,170 (GRCm39)	unclassified	probably benign
big_ole	UTSW	7	44,843,501 (GRCm39)	missense	probably damaging	1.00
PIT4585001:Kash5	UTSW	7	44,849,695 (GRCm39)	missense	probably benign	0.02
R0240:Kash5	UTSW	7	44,849,675 (GRCm39)	missense	probably benign	0.43
R1219:Kash5	UTSW	7	44,838,832 (GRCm39)	splice site	probably benign
R1768:Kash5	UTSW	7	44,838,227 (GRCm39)	splice site	probably null
R5155:Kash5	UTSW	7	44,839,078 (GRCm39)	nonsense	probably null
R5818:Kash5	UTSW	7	44,843,383 (GRCm39)	critical splice donor site	probably null
R6746:Kash5	UTSW	7	44,849,735 (GRCm39)	missense	probably benign	0.06
R7574:Kash5	UTSW	7	44,854,035 (GRCm39)	missense	possibly damaging	0.53
R8030:Kash5	UTSW	7	44,837,608 (GRCm39)	small insertion	probably benign
R8032:Kash5	UTSW	7	44,837,608 (GRCm39)	small insertion	probably benign
R8418:Kash5	UTSW	7	44,843,501 (GRCm39)	missense	probably damaging	1.00
R8762:Kash5	UTSW	7	44,845,481 (GRCm39)	missense	probably damaging	1.00
R9083:Kash5	UTSW	7	44,854,058 (GRCm39)	missense	unknown
R9241:Kash5	UTSW	7	44,833,313 (GRCm39)	missense	probably benign	0.15
Z1176:Kash5	UTSW	7	44,833,678 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATCAGGCTCTCTGCAAGCTC -3'
(R):5'- CTCCAAGGCCATGTTCCTTAAC -3'

Sequencing Primer
(F):5'- CTCTGCAAGCTCACTGAGTAG -3'
(R):5'- TAACATCATCTCTCACCAATCTGG -3'

Posted On

2020-01-23