Mutagenetix > Incidental Mutation

Incidental Mutation 'R9083:Kash5'

690394

Institutional Source

Beutler Lab

Gene Symbol

Kash5

Ensembl Gene

ENSMUSG00000038292

Gene Name

KASH domain containing 5

Synonyms

Ccdc155, LOC384619

MMRRC Submission

068902-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9083 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44833048-44854316 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44854058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 24 (R24C)

Ref Sequence

ENSEMBL: ENSMUSP00000113616 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033057] [ENSMUST00000121017] [ENSMUST00000209466] [ENSMUST00000210741]

AlphaFold

Q80VJ8

Predicted Effect

probably benign
Transcript: ENSMUST00000033057

SMART Domains

Protein: ENSMUSP00000033057
Gene: ENSMUSG00000030792

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	128	144	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000121017
AA Change: R24C

SMART Domains

Protein: ENSMUSP00000113616
Gene: ENSMUSG00000038292
AA Change: R24C

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 benign
Transcript: ENSMUST00000209466

Predicted Effect

probably benign
Transcript: ENSMUST00000210741

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,534,524 (GRCm39)	S844R	possibly damaging	Het
Adig	C	A	2: 158,347,709 (GRCm39)		probably benign	Het
Aspm	A	G	1: 139,421,436 (GRCm39)	N3106S	possibly damaging	Het
Bcas1	A	T	2: 170,190,081 (GRCm39)		probably benign	Het
Bco1	A	C	8: 117,844,143 (GRCm39)	I286L	probably benign	Het
Bnc1	C	T	7: 81,624,646 (GRCm39)	V194I	probably benign	Het
Bptf	G	A	11: 106,959,176 (GRCm39)	R1912W	probably damaging	Het
Cacna1a	A	G	8: 85,344,511 (GRCm39)	I1858V	probably benign	Het
Chdh	T	C	14: 29,753,703 (GRCm39)	F204S	probably damaging	Het
Cic	A	G	7: 24,985,470 (GRCm39)	T1212A	probably damaging	Het
Cpne7	C	T	8: 123,856,951 (GRCm39)	P402L	probably damaging	Het
Cts8	A	G	13: 61,397,036 (GRCm39)	Y295H	probably damaging	Het
Cyp1a2	T	C	9: 57,587,572 (GRCm39)	T333A	probably benign	Het
Cyp2a12	T	C	7: 26,735,944 (GRCm39)	F451S	probably damaging	Het
Dmxl2	T	C	9: 54,316,548 (GRCm39)	I1613V	probably benign	Het
Eme1	A	G	11: 94,540,958 (GRCm39)	L260S	probably damaging	Het
Ermp1	A	C	19: 29,623,415 (GRCm39)	S192A	probably benign	Het
Fam186a	T	C	15: 99,843,079 (GRCm39)	Q1055R	probably benign	Het
Fat1	C	T	8: 45,466,127 (GRCm39)	T1462M	possibly damaging	Het
Fat1	A	G	8: 45,491,336 (GRCm39)	N3822S	probably benign	Het
Gm973	A	G	1: 59,675,317 (GRCm39)	T225A		Het
Gnl2	A	G	4: 124,941,357 (GRCm39)	Y367C	probably damaging	Het
Golga5	T	A	12: 102,458,476 (GRCm39)	S640T	probably benign	Het
Inafm1	A	G	7: 16,007,196 (GRCm39)	V7A	unknown	Het
Irx2	A	G	13: 72,777,392 (GRCm39)	D71G	possibly damaging	Het
Kif13a	T	C	13: 46,966,263 (GRCm39)	Y448C	probably damaging	Het
Lcor	G	T	19: 41,574,839 (GRCm39)	R1198L	probably damaging	Het
Ldlrad4	A	T	18: 68,197,746 (GRCm39)	N10I	probably benign	Het
Lix1	T	C	17: 17,677,392 (GRCm39)	Y196H	possibly damaging	Het
Lrrc37	A	C	11: 103,509,830 (GRCm39)	S713A	unknown	Het
Mon1a	A	G	9: 107,779,835 (GRCm39)	Y468C	probably damaging	Het
Mroh4	A	T	15: 74,498,140 (GRCm39)	I177N	probably damaging	Het
Mterf4	A	T	1: 93,229,515 (GRCm39)	Y236*	probably null	Het
Myo1f	T	A	17: 33,813,036 (GRCm39)	I614N	probably damaging	Het
Nbas	T	A	12: 13,385,856 (GRCm39)	S707T	possibly damaging	Het
Ncl	A	T	1: 86,279,183 (GRCm39)	S577T	possibly damaging	Het
Or10al4	T	A	17: 38,037,060 (GRCm39)	N48K	probably damaging	Het
Or52d13	T	C	7: 103,109,896 (GRCm39)	D173G		Het
Or6c2b	A	T	10: 128,947,892 (GRCm39)	M134K	probably damaging	Het
Or6c69c	A	T	10: 129,910,941 (GRCm39)	M221L	probably benign	Het
Or6c69c	G	C	10: 129,910,969 (GRCm39)	S230T	probably benign	Het
Or7g17	A	T	9: 18,768,550 (GRCm39)	I201F	probably benign	Het
Or8g17	A	G	9: 38,930,016 (GRCm39)	S274P	probably damaging	Het
Padi1	C	A	4: 140,559,602 (GRCm39)		probably null	Het
Patj	G	A	4: 98,401,871 (GRCm39)	V1004M	probably benign	Het
Pcdhb9	A	T	18: 37,535,770 (GRCm39)	D588V	probably damaging	Het
Pdzph1	C	A	17: 59,261,395 (GRCm39)	R879L	possibly damaging	Het
Pla2g2c	G	A	4: 138,463,378 (GRCm39)	V91I	probably benign	Het
Plin4	T	C	17: 56,416,345 (GRCm39)	D53G	possibly damaging	Het
Poll	T	C	19: 45,546,317 (GRCm39)	Q241R	probably benign	Het
Recql5	A	T	11: 115,785,475 (GRCm39)	L674M	possibly damaging	Het
Shroom3	G	A	5: 93,098,533 (GRCm39)	G1338S	probably damaging	Het
Slc38a8	C	T	8: 120,212,780 (GRCm39)	V294I	probably benign	Het
Slc4a1ap	T	C	5: 31,684,457 (GRCm39)	V31A	probably benign	Het
Tln2	G	A	9: 67,269,927 (GRCm39)	P489S	probably damaging	Het
Trappc9	G	A	15: 72,608,626 (GRCm39)	R928*	probably null	Het
Uba7	C	A	9: 107,855,166 (GRCm39)	T343N	probably benign	Het
Vasn	C	T	16: 4,467,871 (GRCm39)	T606I	probably benign	Het
Xrn2	T	A	2: 146,880,199 (GRCm39)	D507E	probably damaging	Het
Zfp592	T	A	7: 80,674,644 (GRCm39)	M536K	possibly damaging	Het
Zfp932	A	T	5: 110,157,100 (GRCm39)	H266L	probably 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
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
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
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'- TGCCATGAAAGTCGCCACAG -3'
(R):5'- GGAGTCCTTCGGTTGAACTCTC -3'

Sequencing Primer
(F):5'- GACTCAGTTGAGGGACACC -3'
(R):5'- GGTTGAACTCTCTCCTGCTTGG -3'

Posted On

2021-12-30