Mutagenetix > Incidental Mutation

Incidental Mutation 'R5155:Kash5'

396660

Institutional Source

Beutler Lab

Gene Symbol

Kash5

Ensembl Gene

ENSMUSG00000038292

Gene Name

KASH domain containing 5

Synonyms

Ccdc155, LOC384619

MMRRC Submission

042737-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5155 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44833048-44854316 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 44839078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 53 (E53*)

Gene Model

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

AlphaFold

Q80VJ8

Predicted Effect

probably null
Transcript: ENSMUST00000121017
AA Change: E376*

SMART Domains

Protein: ENSMUSP00000113616
Gene: ENSMUSG00000038292
AA Change: E376*

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: ENSMUST00000147253
AA Change: E53*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211277

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.4%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,482,447 (GRCm39)	V4326A	probably damaging	Het
Actn4	A	G	7: 28,661,442 (GRCm39)		probably null	Het
Adamts8	A	G	9: 30,865,844 (GRCm39)	D464G	probably benign	Het
Adss1	T	C	12: 112,604,642 (GRCm39)	I366T	probably damaging	Het
Alox12e	T	C	11: 70,207,081 (GRCm39)	D575G	possibly damaging	Het
Ankrd44	A	T	1: 54,817,489 (GRCm39)	M73K	probably benign	Het
Ap4e1	A	G	2: 126,905,289 (GRCm39)	T987A	probably benign	Het
Banp	A	C	8: 122,727,759 (GRCm39)	S318R	probably damaging	Het
Bcas1	T	C	2: 170,260,538 (GRCm39)	H47R	probably damaging	Het
Brwd1	G	T	16: 95,803,993 (GRCm39)	S2524*	probably null	Het
Btbd8	T	C	5: 107,638,569 (GRCm39)	I323T	probably damaging	Het
Cand2	T	A	6: 115,769,219 (GRCm39)	D676E	probably benign	Het
Cc2d1a	A	T	8: 84,867,755 (GRCm39)	H224Q	probably benign	Het
Ccdc138	A	T	10: 58,343,394 (GRCm39)	Y83F	probably benign	Het
Ccdc162	A	T	10: 41,429,576 (GRCm39)		probably null	Het
Ccdc162	A	C	10: 41,455,147 (GRCm39)	S396A	probably damaging	Het
Ces1e	A	T	8: 93,928,034 (GRCm39)	*562R	probably null	Het
Clstn2	T	A	9: 97,338,484 (GRCm39)	M892L	probably benign	Het
Crybg3	T	C	16: 59,345,264 (GRCm39)	T2673A	possibly damaging	Het
Cstf3	A	G	2: 104,482,830 (GRCm39)	N326S	probably benign	Het
Cux1	G	A	5: 136,594,295 (GRCm39)		probably benign	Het
Cyb5r4	T	G	9: 86,922,456 (GRCm39)	M155R	probably benign	Het
D130043K22Rik	A	G	13: 25,056,273 (GRCm39)	D535G	probably damaging	Het
Dnah2	G	A	11: 69,313,362 (GRCm39)	P4266S	probably damaging	Het
Dnah7a	T	A	1: 53,682,654 (GRCm39)	N272I	probably benign	Het
Dsg2	A	G	18: 20,731,715 (GRCm39)	Y779C	possibly damaging	Het
Eif4g3	T	A	4: 137,854,054 (GRCm39)	N507K	probably benign	Het
Elavl4	T	C	4: 110,149,833 (GRCm39)	Q3R	probably null	Het
Engase	T	G	11: 118,372,107 (GRCm39)	I133S	probably benign	Het
Ercc5	T	C	1: 44,219,782 (GRCm39)	V1018A	probably damaging	Het
Ext1	C	A	15: 52,939,213 (GRCm39)	W612L	probably damaging	Het
Faap100	T	A	11: 120,268,458 (GRCm39)	E105V	possibly damaging	Het
Fam8a1	G	A	13: 46,827,038 (GRCm39)	A270T	probably benign	Het
Fhdc1	T	G	3: 84,353,457 (GRCm39)	Q589H	probably benign	Het
Gatm	G	A	2: 122,440,334 (GRCm39)	T35I	probably benign	Het
Gcgr	T	C	11: 120,427,872 (GRCm39)	I271T	probably benign	Het
Gm527	T	A	12: 64,970,381 (GRCm39)	Y239N	probably damaging	Het
H2-Ab1	A	G	17: 34,486,358 (GRCm39)	H139R	possibly damaging	Het
Herc2	G	A	7: 55,877,574 (GRCm39)	R4547Q	possibly damaging	Het
Itga1	A	T	13: 115,171,839 (GRCm39)	S89T	probably benign	Het
Katnip	A	G	7: 125,471,356 (GRCm39)	T1486A	probably damaging	Het
Lrba	A	G	3: 86,258,607 (GRCm39)	M1365V	probably benign	Het
Lrp1b	A	C	2: 41,618,634 (GRCm39)		probably null	Het
Map1a	G	A	2: 121,132,867 (GRCm39)	A990T	probably damaging	Het
Micall2	C	A	5: 139,695,986 (GRCm39)	L784F	probably damaging	Het
Mmp9	T	C	2: 164,790,986 (GRCm39)		probably null	Het
Mrps7	T	A	11: 115,495,655 (GRCm39)	Y64*	probably null	Het
Mslnl	C	T	17: 25,957,942 (GRCm39)	Q62*	probably null	Het
Nfil3	A	G	13: 53,122,616 (GRCm39)	L96P	probably damaging	Het
Or2f1	A	G	6: 42,721,748 (GRCm39)	Y259C	probably damaging	Het
Phf3	T	C	1: 30,863,457 (GRCm39)	D756G	possibly damaging	Het
Plxnd1	C	T	6: 115,935,949 (GRCm39)		probably null	Het
Prickle4	C	T	17: 48,000,982 (GRCm39)		probably null	Het
Prr9	T	A	3: 92,030,356 (GRCm39)	T95S	possibly damaging	Het
Prrc2a	A	G	17: 35,379,067 (GRCm39)		probably null	Het
Prrt3	A	G	6: 113,474,520 (GRCm39)		probably null	Het
Psme4	A	T	11: 30,826,806 (GRCm39)	Y1775F	probably damaging	Het
Pum2	T	C	12: 8,763,572 (GRCm39)	V243A	possibly damaging	Het
Rnf32	T	C	5: 29,408,145 (GRCm39)	S125P	probably damaging	Het
Rnf8	A	G	17: 29,845,604 (GRCm39)	Y65C	probably damaging	Het
Rph3a	T	C	5: 121,086,833 (GRCm39)	T456A	possibly damaging	Het
Scaper	T	A	9: 55,463,370 (GRCm39)	Q854L	probably null	Het
Sez6l2	T	C	7: 126,561,545 (GRCm39)	S472P	probably damaging	Het
Spsb3	T	C	17: 25,105,969 (GRCm39)		probably benign	Het
Srebf2	A	G	15: 82,080,427 (GRCm39)	D40G	probably damaging	Het
Sspo	A	G	6: 48,437,408 (GRCm39)	N1389D	probably benign	Het
Taf4b	G	T	18: 14,963,152 (GRCm39)	A631S	probably benign	Het
Tcstv1b	T	C	13: 120,635,089 (GRCm39)	S124P	probably benign	Het
Tigd4	G	A	3: 84,501,970 (GRCm39)	V296M	possibly damaging	Het
Tsc22d2	T	A	3: 58,324,737 (GRCm39)		probably benign	Het
Uso1	T	A	5: 92,315,194 (GRCm39)		probably null	Het
Vmn2r6	T	G	3: 64,445,935 (GRCm39)	N597H	probably benign	Het
Zfc3h1	T	A	10: 115,248,026 (GRCm39)	S1076R	possibly damaging	Het
Zfp64	T	A	2: 168,748,885 (GRCm39)	Q44L	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
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	44,837,630 (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'- CCAAGACATGAGGCTGCTGAAG -3'
(R):5'- ACATCCTAGGCAGTCAGCTG -3'

Sequencing Primer
(F):5'- GCTGGCTGAGCTGGGAC -3'
(R):5'- TAGGCAGTCAGCTGGAGTC -3'

Posted On

2016-06-21