Mutagenetix > Incidental Mutation

Incidental Mutation 'R5818:Kash5'

449160

Institutional Source

Beutler Lab

Gene Symbol

Kash5

Ensembl Gene

ENSMUSG00000038292

Gene Name

KASH domain containing 5

Synonyms

Ccdc155, LOC384619

MMRRC Submission

043398-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5818 (G1)

Quality Score

167

Status

Validated

Chromosome

Chromosomal Location

44833048-44854316 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 44843383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113616 (fasta)

Gene Model

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

AlphaFold

Q80VJ8

Predicted Effect

probably null
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

Predicted Effect

probably null
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

Predicted Effect

probably null
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211277

Meta Mutation Damage Score

0.9491

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

100% (64/64)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,110,469 (GRCm39)	V560D	probably damaging	Het
Actn4	A	G	7: 28,618,444 (GRCm39)	I72T	probably damaging	Het
Adam33	A	T	2: 130,896,278 (GRCm39)	C440S	possibly damaging	Het
Bace1	T	C	9: 45,770,347 (GRCm39)	I361T	possibly damaging	Het
Bend6	T	C	1: 33,922,654 (GRCm39)		probably benign	Het
Bpifb9a	T	G	2: 154,104,215 (GRCm39)	N219K	probably damaging	Het
Cacna1g	C	A	11: 94,308,946 (GRCm39)	K1634N	probably damaging	Het
Cdk18	A	G	1: 132,046,836 (GRCm39)		probably null	Het
Chrng	G	A	1: 87,137,523 (GRCm39)	V320I	probably benign	Het
Corin	G	T	5: 72,592,738 (GRCm39)	H87N	probably benign	Het
Cps1	A	T	1: 67,205,647 (GRCm39)	I557F	possibly damaging	Het
Cyp4a29	T	C	4: 115,104,229 (GRCm39)	V99A	possibly damaging	Het
Dach1	T	C	14: 98,406,120 (GRCm39)	D209G	probably damaging	Het
Dgat1	G	A	15: 76,386,407 (GRCm39)		probably benign	Het
Eif1ad8	T	G	12: 87,563,830 (GRCm39)	V55G	possibly damaging	Het
Fbxw26	G	T	9: 109,561,634 (GRCm39)	R187S	probably benign	Het
Gabrd	G	A	4: 155,472,818 (GRCm39)	P122S	probably damaging	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Hif1a	A	G	12: 73,986,338 (GRCm39)	Q343R	possibly damaging	Het
Hyou1	G	A	9: 44,300,223 (GRCm39)		probably null	Het
Igfn1	A	T	1: 135,893,864 (GRCm39)	I2072K	possibly damaging	Het
Itprid2	T	A	2: 79,474,937 (GRCm39)	S299T	probably damaging	Het
Kctd8	C	T	5: 69,454,054 (GRCm39)	A328T	probably benign	Het
Krt10	A	G	11: 99,279,597 (GRCm39)	Y188H	probably damaging	Het
Krtap4-16	T	A	11: 99,742,349 (GRCm39)	Q17L	unknown	Het
Larp4b	T	A	13: 9,208,596 (GRCm39)	S416R	probably benign	Het
Lmtk2	G	A	5: 144,093,718 (GRCm39)	V232M	probably benign	Het
Mroh4	A	G	15: 74,483,831 (GRCm39)	I571T	probably damaging	Het
Myo15a	G	A	11: 60,388,777 (GRCm39)	R2021Q	probably benign	Het
Npl	G	A	1: 153,411,661 (GRCm39)	R63C	probably damaging	Het
Ntn4	A	G	10: 93,480,626 (GRCm39)	I80V	probably benign	Het
Numb	C	T	12: 83,872,028 (GRCm39)		probably null	Het
Nusap1	A	C	2: 119,465,994 (GRCm39)	M205L	possibly damaging	Het
Onecut2	T	A	18: 64,474,046 (GRCm39)	M180K	possibly damaging	Het
Or10d1b	T	C	9: 39,613,661 (GRCm39)	S135G	probably benign	Het
Pmfbp1	T	C	8: 110,265,311 (GRCm39)		probably null	Het
Ppfia1	T	C	7: 144,074,305 (GRCm39)		probably benign	Het
Ppm1b	A	G	17: 85,301,147 (GRCm39)	K9R	probably benign	Het
Rab11fip3	T	C	17: 26,235,090 (GRCm39)	S608G	probably damaging	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261 (GRCm39)		probably benign	Het
Sohlh2	A	G	3: 55,097,922 (GRCm39)	T125A	probably damaging	Het
Tet1	C	A	10: 62,652,187 (GRCm39)	M1610I	possibly damaging	Het
Tgfbr3	A	T	5: 107,280,869 (GRCm39)	D630E	probably benign	Het
Thnsl2	T	C	6: 71,111,127 (GRCm39)	D247G	probably benign	Het
Tmem198b	G	A	10: 128,638,057 (GRCm39)	R169W	probably benign	Het
Tmem201	G	A	4: 149,811,849 (GRCm39)	A332V	probably benign	Het
Tsku	T	C	7: 98,001,305 (GRCm39)	D342G	possibly damaging	Het
Ucn2	A	T	9: 108,815,565 (GRCm39)	H109L	probably benign	Het
Virma	T	G	4: 11,513,319 (GRCm39)	L391R	possibly damaging	Het
Vmn1r60	T	A	7: 5,548,098 (GRCm39)	M1L	probably benign	Het
Vmn2r76	T	C	7: 85,879,142 (GRCm39)	H386R	probably benign	Het
Zfp608	C	T	18: 55,028,468 (GRCm39)	R1315Q	probably benign	Het
Zmym2	A	G	14: 57,183,986 (GRCm39)	T983A	probably benign	Het
Zscan26	A	G	13: 21,629,931 (GRCm39)	S65P	probably benign	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
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	44,837,630 (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'- CATGGGCCATACAGCAAAGG -3'
(R):5'- CCACCTAAGGAAGCTATGGG -3'

Sequencing Primer
(F):5'- CATACAGCAAAGGAAGAAAGGGGTAC -3'
(R):5'- AGACCCTTGCTGTCCTCAGG -3'

Posted On

2016-12-20