Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4585001:Kash5'

556605

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 #

PIT4585001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44833048-44854316 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44849695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 76 (G76D)

Ref Sequence

ENSEMBL: ENSMUSP00000113616 (fasta)

Gene Model

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

AlphaFold

Q80VJ8

Predicted Effect

probably benign
Transcript: ENSMUST00000121017
AA Change: G76D

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000113616
Gene: ENSMUSG00000038292
AA Change: G76D

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: 93.6%
3x: 91.2%
10x: 86.5%
20x: 76.8%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aurka	T	C	2: 172,199,117 (GRCm39)	M318V	probably benign	Het
Cacna2d1	T	A	5: 16,531,342 (GRCm39)	D560E	probably damaging	Het
Ccdc148	T	A	2: 58,872,988 (GRCm39)	T202S	probably benign	Het
Cdc42bpb	T	C	12: 111,271,412 (GRCm39)	D1149G	probably damaging	Het
Clasp1	T	A	1: 118,390,285 (GRCm39)	N156K	probably damaging	Het
Cox18	G	A	5: 90,365,434 (GRCm39)	T255I	possibly damaging	Het
Cse1l	A	G	2: 166,783,394 (GRCm39)	T783A	probably damaging	Het
Dnajc16	T	C	4: 141,491,996 (GRCm39)	Y609C	probably damaging	Het
Doc2g	A	G	19: 4,056,630 (GRCm39)	T339A	probably benign	Het
Eif5a	T	C	11: 69,808,896 (GRCm39)		probably benign	Het
Epha3	A	G	16: 63,386,940 (GRCm39)		probably null	Het
Esco1	A	T	18: 10,594,355 (GRCm39)	C310*	probably null	Het
Fam222a	A	G	5: 114,749,101 (GRCm39)	Y99C	probably damaging	Het
Fzd2	T	C	11: 102,496,573 (GRCm39)	L339P	probably damaging	Het
Gfral	A	T	9: 76,104,576 (GRCm39)	N145K	probably damaging	Het
Gga1	T	A	15: 78,777,990 (GRCm39)	N618K	probably benign	Het
Gpatch3	T	A	4: 133,310,397 (GRCm39)	H447Q	probably damaging	Het
Gpn1	A	T	5: 31,666,747 (GRCm39)	R346*	probably null	Het
Gsg1	T	C	6: 135,214,558 (GRCm39)	E317G	probably benign	Het
Gsk3b	A	G	16: 38,004,816 (GRCm39)	N129S	probably damaging	Het
Hmg20b	G	T	10: 81,184,789 (GRCm39)	D94E	possibly damaging	Het
Klhdc9	T	A	1: 171,187,386 (GRCm39)	H204L	possibly damaging	Het
Klhl24	A	G	16: 19,925,638 (GRCm39)	I55M	probably benign	Het
Kmt2c	T	C	5: 25,520,104 (GRCm39)	D2002G	probably benign	Het
Lama4	A	G	10: 38,950,742 (GRCm39)	N1015S	probably damaging	Het
Lpp	T	C	16: 24,580,697 (GRCm39)	C263R	probably benign	Het
Lrp1b	T	C	2: 41,159,216 (GRCm39)	I1689V		Het
Mipep	C	A	14: 61,022,284 (GRCm39)	Q50K	probably benign	Het
Mx1	T	C	16: 97,257,454 (GRCm39)	D101G	probably benign	Het
Nabp2	C	G	10: 128,244,676 (GRCm39)	E37Q	possibly damaging	Het
Nme6	A	G	9: 109,671,104 (GRCm39)	I115V	possibly damaging	Het
Nup93	A	T	8: 94,970,355 (GRCm39)	T85S	probably benign	Het
Oit3	T	A	10: 59,266,835 (GRCm39)	I224F	possibly damaging	Het
Parp14	T	C	16: 35,678,975 (GRCm39)	K331R	probably benign	Het
Pls1	T	A	9: 95,643,443 (GRCm39)	T519S	probably benign	Het
Rcn3	A	G	7: 44,736,118 (GRCm39)	F197L	probably benign	Het
Rnf213	C	T	11: 119,349,218 (GRCm39)	T3773I		Het
Rprd1b	A	T	2: 157,889,877 (GRCm39)	I153L	probably benign	Het
Scel	A	G	14: 103,829,804 (GRCm39)	D462G	possibly damaging	Het
Sh3bp1	C	T	15: 78,794,276 (GRCm39)	S548L	possibly damaging	Het
Sim1	T	A	10: 50,860,284 (GRCm39)	Y715*	probably null	Het
Slc18a2	A	T	19: 59,282,293 (GRCm39)	Q500L	possibly damaging	Het
Slc5a8	T	G	10: 88,722,365 (GRCm39)	M66R	probably damaging	Het
Slco1a6	T	C	6: 142,055,246 (GRCm39)	T233A	probably damaging	Het
Smu1	T	C	4: 40,739,623 (GRCm39)	T396A	probably benign	Het
Tas2r104	T	C	6: 131,662,521 (GRCm39)	T63A	possibly damaging	Het
Tasor2	G	A	13: 3,624,979 (GRCm39)	A1657V	possibly damaging	Het
Top2a	C	T	11: 98,892,199 (GRCm39)	A1088T	probably benign	Het
Ucp1	T	C	8: 84,020,577 (GRCm39)	F129S	probably damaging	Het
Unc13b	T	A	4: 43,091,298 (GRCm39)	D41E	probably benign	Het
Usp10	T	G	8: 120,681,631 (GRCm39)	V696G	probably benign	Het
Xylt2	C	T	11: 94,557,066 (GRCm39)	V745M	probably damaging	Het
Zbtb49	A	T	5: 38,373,820 (GRCm39)	N41K	probably damaging	Het
Zfp109	T	A	7: 23,928,779 (GRCm39)	D218V	probably benign	Het
Zfp420	G	A	7: 29,575,430 (GRCm39)	R550Q	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
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

Predicted Primers

PCR Primer
(F):5'- TTACCCAAAGTAAGAGGTGCG -3'
(R):5'- TTAGTCAGCCGAGAGTGTGG -3'

Sequencing Primer
(F):5'- GTGGAGCCTTCTGTCCTCAATAG -3'
(R):5'- GCCAGTCTGAGGAAGCCATC -3'

Posted On

2019-06-07