Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01620:Kash5'

92490

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01620

Quality Score

Status

Chromosome

Chromosomal Location

44833048-44854316 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44839384 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 359 (D359G)

Ref Sequence

ENSEMBL: ENSMUSP00000113616 (fasta)

Gene Model

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

AlphaFold

Q80VJ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000121017
AA Change: D359G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113616
Gene: ENSMUSG00000038292
AA Change: D359G

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: ENSMUST00000147253
AA Change: D36G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211277

Coding Region Coverage

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	T	15: 102,248,385 (GRCm39)	V277D	probably damaging	Het
Akap9	T	A	5: 4,010,218 (GRCm39)	V325D	probably benign	Het
Ambra1	A	G	2: 91,741,757 (GRCm39)		probably null	Het
Ano9	A	G	7: 140,690,352 (GRCm39)	L94P	probably damaging	Het
Atad3a	G	T	4: 155,830,535 (GRCm39)	T521K	probably damaging	Het
Bckdk	A	G	7: 127,504,948 (GRCm39)	K126E	possibly damaging	Het
Bdp1	A	T	13: 100,220,713 (GRCm39)		probably benign	Het
Btbd17	T	C	11: 114,686,599 (GRCm39)	T26A	probably benign	Het
Cadps2	G	A	6: 23,587,461 (GRCm39)	S314L	probably benign	Het
Ccl8	A	T	11: 82,007,435 (GRCm39)	Q90L	probably damaging	Het
Chit1	T	C	1: 134,078,257 (GRCm39)	V355A	probably damaging	Het
Col17a1	A	G	19: 47,656,978 (GRCm39)	I555T	possibly damaging	Het
Dmwd	T	A	7: 18,815,159 (GRCm39)		probably null	Het
Dtna	T	C	18: 23,758,144 (GRCm39)	I483T	probably damaging	Het
Eloc	T	A	1: 16,713,502 (GRCm39)		probably benign	Het
Emc7	T	A	2: 112,295,119 (GRCm39)	L177H	probably damaging	Het
Emsy	T	A	7: 98,275,831 (GRCm39)	K352I	probably damaging	Het
Ermn	T	C	2: 57,942,502 (GRCm39)	E76G	probably benign	Het
Flot1	A	T	17: 36,140,763 (GRCm39)	E203V	possibly damaging	Het
Hsd11b2	A	G	8: 106,249,529 (GRCm39)	K266R	probably benign	Het
Iqck	A	T	7: 118,476,901 (GRCm39)	K154M	probably damaging	Het
Itgb5	T	A	16: 33,740,168 (GRCm39)	V426E	probably damaging	Het
Kif13a	T	C	13: 47,018,296 (GRCm39)	K53R	probably benign	Het
Klhl2	A	T	8: 65,232,772 (GRCm39)	H168Q	probably damaging	Het
Lpcat2b	T	C	5: 107,581,759 (GRCm39)	Y363H	probably damaging	Het
Lrp6	A	T	6: 134,488,225 (GRCm39)	N290K	probably damaging	Het
Map2k3	T	C	11: 60,840,873 (GRCm39)	F301L	possibly damaging	Het
Mns1	A	G	9: 72,364,195 (GRCm39)		probably benign	Het
Nos1	A	G	5: 118,043,374 (GRCm39)		probably null	Het
Or1j17	T	A	2: 36,578,550 (GRCm39)	C179S	probably damaging	Het
Or52h7	T	A	7: 104,214,220 (GRCm39)	V264D	probably damaging	Het
Pask	A	T	1: 93,237,844 (GRCm39)	H1374Q	possibly damaging	Het
Pik3r1	G	A	13: 101,822,728 (GRCm39)	A658V	probably damaging	Het
Ppp2r2a	A	T	14: 67,307,726 (GRCm39)	F14I	probably damaging	Het
Ptprc	C	T	1: 137,996,148 (GRCm39)	E904K	possibly damaging	Het
Rab11fip4	G	T	11: 79,582,705 (GRCm39)	D591Y	possibly damaging	Het
Rab3gap2	A	G	1: 184,936,523 (GRCm39)	T29A	probably benign	Het
Rgs19	A	G	2: 181,331,381 (GRCm39)	V84A	possibly damaging	Het
Shisa6	T	G	11: 66,108,705 (GRCm39)	M391L	probably benign	Het
Sipa1l1	G	A	12: 82,469,263 (GRCm39)	G1254D	probably damaging	Het
Slfn8	A	T	11: 82,895,059 (GRCm39)	Y358*	probably null	Het
Taf3	G	T	2: 9,957,472 (GRCm39)	R232S	probably benign	Het
Terb2	T	A	2: 122,035,338 (GRCm39)	H186Q	possibly damaging	Het
Trav13n-4	T	C	14: 53,601,473 (GRCm39)	S81P	probably damaging	Het
Trim30d	G	T	7: 104,121,333 (GRCm39)	P321T	possibly damaging	Het
Tyrp1	G	T	4: 80,763,039 (GRCm39)	G309*	probably null	Het
Vps13d	C	A	4: 144,821,437 (GRCm39)	G2979V	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
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
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

Posted On

2013-12-09