Mutagenetix > Incidental Mutation

Incidental Mutation 'R8418:Kash5'

653042

Institutional Source

Beutler Lab

Gene Symbol

Kash5

Ensembl Gene

ENSMUSG00000038292

Gene Name

KASH domain containing 5

Synonyms

Ccdc155, LOC384619

MMRRC Submission

067897-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8418 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44833048-44854316 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44843501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 241 (L241P)

Ref Sequence

ENSEMBL: ENSMUSP00000113616 (fasta)

Gene Model

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

AlphaFold

Q80VJ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000121017
AA Change: L241P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113616
Gene: ENSMUSG00000038292
AA Change: L241P

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

Meta Mutation Damage Score

0.0851

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (48/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf2	T	C	17: 43,021,477 (GRCm39)	H449R	probably benign	Het
Arfgef2	T	C	2: 166,698,468 (GRCm39)	V646A	probably benign	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Ccdc62	C	T	5: 124,084,455 (GRCm39)	R279*	probably null	Het
Cimip2b	A	G	4: 43,427,204 (GRCm39)	L76P	unknown	Het
Col6a5	G	T	9: 105,755,821 (GRCm39)	P2201Q	probably damaging	Het
Cpa3	T	C	3: 20,276,315 (GRCm39)	Y306C	probably damaging	Het
Cpne9	A	G	6: 113,260,398 (GRCm39)	N82D	possibly damaging	Het
Dcaf17	T	A	2: 70,918,717 (GRCm39)	D430E	probably damaging	Het
Dcst2	T	C	3: 89,278,901 (GRCm39)	V546A	probably benign	Het
Dennd1a	T	C	2: 37,748,403 (GRCm39)	T359A	probably benign	Het
Dgkb	C	A	12: 38,380,016 (GRCm39)	H591N	probably damaging	Het
Dnah17	G	A	11: 117,994,284 (GRCm39)	S1047F	probably benign	Het
Dock2	A	G	11: 34,609,795 (GRCm39)	I215T	probably benign	Het
Efcab12	A	G	6: 115,799,076 (GRCm39)		probably null	Het
Erich3	C	T	3: 154,415,378 (GRCm39)	R165C		Het
Gabrr1	C	T	4: 33,162,615 (GRCm39)	R394*	probably null	Het
Garnl3	G	T	2: 32,942,158 (GRCm39)	Q153K	possibly damaging	Het
Gars1	A	G	6: 55,042,446 (GRCm39)	N393S	probably damaging	Het
Gbp2b	A	T	3: 142,309,466 (GRCm39)	E192D	probably benign	Het
Gm28360	A	T	1: 117,781,357 (GRCm39)	H116L	probably benign	Het
Gm9602	T	A	14: 15,935,348 (GRCm39)		probably benign	Het
Gp1bb	T	A	16: 18,440,103 (GRCm39)	H5L	unknown	Het
Grik3	A	G	4: 125,579,835 (GRCm39)	K527E	possibly damaging	Het
Hhip	T	C	8: 80,771,714 (GRCm39)	M199V	probably damaging	Het
Irgm1	A	G	11: 48,757,166 (GRCm39)	V231A	probably damaging	Het
Itgal	A	T	7: 126,929,454 (GRCm39)	I1124F	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Miga1	T	G	3: 151,990,954 (GRCm39)	Y433S	probably damaging	Het
Muc16	A	T	9: 18,430,926 (GRCm39)	I8062K	possibly damaging	Het
Ntsr2	T	G	12: 16,706,662 (GRCm39)	V230G	possibly damaging	Het
Or52ab2	A	G	7: 102,970,278 (GRCm39)	Y220C		Het
Ptpn2	G	A	18: 67,814,592 (GRCm39)	T139M	probably damaging	Het
Pum2	T	A	12: 8,760,245 (GRCm39)	D145E	possibly damaging	Het
Radil	T	C	5: 142,480,676 (GRCm39)	E593G	probably benign	Het
Rdh14	T	C	12: 10,444,580 (GRCm39)	F144L	probably damaging	Het
Sec23ip	T	G	7: 128,380,187 (GRCm39)	D867E	probably damaging	Het
Serpina6	T	C	12: 103,613,187 (GRCm39)	Y371C	probably damaging	Het
Snx13	T	A	12: 35,148,233 (GRCm39)	I254N	probably damaging	Het
Tacc1	T	C	8: 25,731,532 (GRCm39)	K7E	probably damaging	Het
Thoc2l	C	A	5: 104,667,724 (GRCm39)	Q749K	possibly damaging	Het
Timeless	A	C	10: 128,086,605 (GRCm39)	N1048T	probably benign	Het
Tll2	C	A	19: 41,081,276 (GRCm39)	E732D	probably damaging	Het
Tmem171	A	G	13: 98,828,740 (GRCm39)	S137P	probably damaging	Het
Ttll3	A	T	6: 113,371,734 (GRCm39)	M44L	probably benign	Het
Vmn2r29	T	A	7: 7,244,939 (GRCm39)	I312L	probably benign	Het
Vmn2r43	A	T	7: 8,258,583 (GRCm39)	L210*	probably null	Het
Vmn2r60	A	G	7: 41,844,850 (GRCm39)	I738V	probably damaging	Het
Zfp977	T	A	7: 42,229,410 (GRCm39)	M372L	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
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
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'- TGCCAGCAGTACCTAGATCC -3'
(R):5'- AGCTTTGGAGGAGAAGACCC -3'

Sequencing Primer
(F):5'- GCAGTACCTAGATCCCAGGCTC -3'
(R):5'- ACTGATGTCTCGGCCTAGGAGAG -3'

Posted On

2020-10-20