Mutagenetix > Incidental Mutation

Incidental Mutation 'R2430:Knstrn'

250366

Institutional Source

Beutler Lab

Gene Symbol

Knstrn

Ensembl Gene

ENSMUSG00000027331

Gene Name

kinetochore-localized astrin/SPAG5 binding

Synonyms

D2Ertd750e, 1700025D04Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2430 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118644470-118667691 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 118664584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028803] [ENSMUST00000110842] [ENSMUST00000123104] [ENSMUST00000134661] [ENSMUST00000148877] [ENSMUST00000176463]

AlphaFold

Q9D9Z1

Predicted Effect

probably benign
Transcript: ENSMUST00000028803

SMART Domains

Protein: ENSMUSP00000028803
Gene: ENSMUSG00000027331

Domain	Start	End	E-Value	Type
coiled coil region	118	159	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000110842
AA Change: E226G

SMART Domains

Protein: ENSMUSP00000106466
Gene: ENSMUSG00000027331
AA Change: E226G

Domain	Start	End	E-Value	Type
coiled coil region	91	132	N/A	INTRINSIC
coiled coil region	168	210	N/A	INTRINSIC
low complexity region	225	234	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123104

SMART Domains

Protein: ENSMUSP00000135422
Gene: ENSMUSG00000027331

Domain	Start	End	E-Value	Type
coiled coil region	104	145	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126045

SMART Domains

Protein: ENSMUSP00000122844
Gene: ENSMUSG00000027331

Domain	Start	End	E-Value	Type
coiled coil region	110	151	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133534

Predicted Effect

probably benign
Transcript: ENSMUST00000134579

Predicted Effect

unknown
Transcript: ENSMUST00000134661
AA Change: E304G

SMART Domains

Protein: ENSMUSP00000115860
Gene: ENSMUSG00000027331
AA Change: E304G

Domain	Start	End	E-Value	Type
low complexity region	22	38	N/A	INTRINSIC
coiled coil region	169	210	N/A	INTRINSIC
coiled coil region	246	288	N/A	INTRINSIC
low complexity region	303	312	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000148877
AA Change: E10G

Predicted Effect

unknown
Transcript: ENSMUST00000176463
AA Change: E50G

SMART Domains

Protein: ENSMUSP00000135549
Gene: ENSMUSG00000027331
AA Change: E50G

Domain	Start	End	E-Value	Type
coiled coil region	1	34	N/A	INTRINSIC
low complexity region	49	58	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177103

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele display reduced fertility, decreased testis size, oligozoospermia, and defects in early spermatogenesis associated with abnormal spermatogonia proliferation and increased testis apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arc	T	C	15: 74,543,740 (GRCm39)	E161G	probably benign	Het
Ass1	A	G	2: 31,391,508 (GRCm39)	H261R	probably damaging	Het
Car11	T	A	7: 45,353,072 (GRCm39)		probably null	Het
Crebbp	T	C	16: 3,914,329 (GRCm39)	H844R	probably damaging	Het
Dnai2	A	G	11: 114,648,012 (GRCm39)		probably benign	Het
Eya2	T	C	2: 165,558,050 (GRCm39)		probably null	Het
Klhl40	A	G	9: 121,609,667 (GRCm39)	D484G	possibly damaging	Het
Nckap5	A	G	1: 125,842,494 (GRCm39)	S1838P	probably damaging	Het
Nipsnap2	A	G	5: 129,821,855 (GRCm39)	D117G	possibly damaging	Het
Nudt15	C	T	14: 73,762,742 (GRCm39)		probably benign	Het
Or5w16	T	A	2: 87,576,999 (GRCm39)	M153K	possibly damaging	Het
Or8k35	A	G	2: 86,425,052 (GRCm39)	I40T	probably benign	Het
Pcdh20	T	C	14: 88,704,984 (GRCm39)	D772G	probably damaging	Het
Pdss1	T	A	2: 22,819,605 (GRCm39)	Y289*	probably null	Het
Phc2	A	T	4: 128,601,776 (GRCm39)	Y77F	probably damaging	Het
Ppip5k2	A	T	1: 97,662,755 (GRCm39)	Y667N	probably damaging	Het
Prdm2	A	G	4: 142,859,733 (GRCm39)	S1186P	possibly damaging	Het
Prr36	A	T	8: 4,263,488 (GRCm39)		probably benign	Het
Reck	C	T	4: 43,930,202 (GRCm39)	T592I	possibly damaging	Het
Rprd2	T	A	3: 95,672,107 (GRCm39)	K1015*	probably null	Het
Tfrc	T	G	16: 32,445,529 (GRCm39)	Y617D	probably damaging	Het
Tnfsf11	A	C	14: 78,521,752 (GRCm39)	D152E	probably benign	Het
Vmn2r54	T	A	7: 12,365,933 (GRCm39)	I334F	probably damaging	Het

Other mutations in Knstrn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02370:Knstrn	APN	2	118,654,269 (GRCm39)	critical splice donor site	probably null
Lychee	UTSW	2	118,661,461 (GRCm39)	intron	probably benign
R0529:Knstrn	UTSW	2	118,661,461 (GRCm39)	intron	probably benign
R2202:Knstrn	UTSW	2	118,661,456 (GRCm39)	splice site	probably null
R2203:Knstrn	UTSW	2	118,661,456 (GRCm39)	splice site	probably null
R2204:Knstrn	UTSW	2	118,661,456 (GRCm39)	splice site	probably null
R4672:Knstrn	UTSW	2	118,664,513 (GRCm39)	missense	possibly damaging	0.93
R4672:Knstrn	UTSW	2	118,664,512 (GRCm39)	missense	probably damaging	0.98
R5554:Knstrn	UTSW	2	118,664,444 (GRCm39)	intron	probably benign
R5954:Knstrn	UTSW	2	118,661,436 (GRCm39)	intron	probably benign
R6695:Knstrn	UTSW	2	118,644,723 (GRCm39)	missense	probably damaging	0.99
R6981:Knstrn	UTSW	2	118,664,575 (GRCm39)	missense	possibly damaging	0.80
R7269:Knstrn	UTSW	2	118,661,869 (GRCm39)	splice site	probably null
R8829:Knstrn	UTSW	2	118,654,222 (GRCm39)	nonsense	probably null
R9448:Knstrn	UTSW	2	118,644,975 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTCTATGTAGCACGGGTATAACGG -3'
(R):5'- CATCTGAAGGTGGGGCAATC -3'

Sequencing Primer
(F):5'- CACGGGTATAACGGTCTGGTC -3'
(R):5'- TCTGCTTAAAGGAGGAACCCCAG -3'

Posted On

2014-11-12