Mutagenetix > Incidental Mutations

Incidental Mutation 'R2202:Knstrn'

238706

Institutional Source

Beutler Lab

Gene Symbol

Knstrn

Ensembl Gene

ENSMUSG00000027331

Gene Name

kinetochore-localized astrin/SPAG5 binding

Synonyms

1700025D04Rik, D2Ertd750e

MMRRC Submission

040204-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2202 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118814003-118853957 bp(+) (GRCm38)

Type of Mutation

unclassified (6 bp from exon)

DNA Base Change (assembly)

T to A at 118830975 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

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

probably benign
Transcript: ENSMUST00000110842

SMART Domains

Protein: ENSMUSP00000106466
Gene: ENSMUSG00000027331

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 null
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

probably benign
Transcript: ENSMUST00000134661

SMART Domains

Protein: ENSMUSP00000115860
Gene: ENSMUSG00000027331

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

probably benign
Transcript: ENSMUST00000148877

Predicted Effect

probably benign
Transcript: ENSMUST00000176463

SMART Domains

Protein: ENSMUSP00000135549
Gene: ENSMUSG00000027331

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: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	C	5: 63,898,668	V249A	possibly damaging	Het
5330417C22Rik	C	T	3: 108,475,043	G270E	probably damaging	Het
9930111J21Rik2	C	G	11: 49,019,322	L761F	probably damaging	Het
Abca1	G	A	4: 53,090,291	T386I	probably damaging	Het
Abca14	T	C	7: 120,289,541	Y1237H	probably benign	Het
Abi3bp	T	G	16: 56,613,203	L550R	probably benign	Het
Abi3bp	C	T	16: 56,650,725	R578*	probably null	Het
Adamts7	A	T	9: 90,180,676	K394N	probably damaging	Het
Ahdc1	A	G	4: 133,065,909	E1487G	possibly damaging	Het
AI987944	T	C	7: 41,374,526	E343G	probably damaging	Het
Ankrd26	T	A	6: 118,523,882	H876L	possibly damaging	Het
Atg16l1	A	C	1: 87,767,015	Q138P	probably benign	Het
Atp1b1	G	T	1: 164,453,515	T11K	probably benign	Het
Calr3	A	G	8: 72,434,839	L40S	probably damaging	Het
Ccar1	A	C	10: 62,745,287	D1119E	unknown	Het
Cdan1	C	A	2: 120,720,760	C1093F	probably damaging	Het
Cdk12	T	G	11: 98,210,638	S441A	unknown	Het
Ces4a	T	A	8: 105,146,114	V333E	probably damaging	Het
Cfap61	T	C	2: 146,214,680	L1193P	probably damaging	Het
Chd2	A	T	7: 73,478,668	D856E	probably benign	Het
Chil3	T	C	3: 106,164,246	D34G	probably benign	Het
Cln3	T	A	7: 126,579,218	H211L	probably benign	Het
Cpa1	A	G	6: 30,641,819	D214G	probably damaging	Het
Cttnbp2	T	G	6: 18,408,694	D976A	probably benign	Het
Dcstamp	T	A	15: 39,754,312	V39E	probably damaging	Het
Dicer1	C	T	12: 104,731,038	V87M	probably damaging	Het
Duox1	A	G	2: 122,344,713	T1331A	probably benign	Het
Fam184a	T	A	10: 53,652,434	Q29L	probably damaging	Het
Fcer2a	T	C	8: 3,688,557	E60G	possibly damaging	Het
Flnc	C	T	6: 29,459,508	P2536S	probably damaging	Het
Fnbp1l	A	T	3: 122,546,962	M463K	probably benign	Het
Garem2	A	G	5: 30,114,764	D408G	probably benign	Het
Gm12169	A	G	11: 46,528,567	N70S	probably benign	Het
Gm6370	T	A	5: 146,493,729	D241E	probably benign	Het
Gpc3	T	A	X: 52,397,206	I344F	probably damaging	Het
Gtf2e1	T	A	16: 37,511,542	E390D	possibly damaging	Het
Hmgcs2	T	A	3: 98,291,183	I134N	probably damaging	Het
Il15ra	T	A	2: 11,718,344		probably null	Het
Ints8	A	T	4: 11,225,712	M615K	possibly damaging	Het
Irak1	G	A	X: 74,017,138	T193I	probably damaging	Het
Jmjd1c	A	G	10: 67,239,463		probably null	Het
Letm1	C	A	5: 33,769,486	V156L	possibly damaging	Het
Lrrc24	G	A	15: 76,722,911	P95L	probably damaging	Het
Map2k2	T	C	10: 81,119,379	S14P	probably damaging	Het
Me3	T	C	7: 89,850,381	Y535H	probably damaging	Het
Nfatc2ip	T	C	7: 126,391,295	E178G	probably benign	Het
Nop56	T	A	2: 130,277,568	I51N	probably damaging	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Nudt5	A	T	2: 5,855,983	I22F	possibly damaging	Het
Olfr1198	C	G	2: 88,746,609	G93A	probably benign	Het
Olfr164	C	T	16: 19,286,297	A149T	probably benign	Het
Olfr714	T	A	7: 107,074,316	W163R	probably damaging	Het
Pbrm1	A	G	14: 31,032,449	D142G	possibly damaging	Het
Pdcl	A	T	2: 37,352,044	N231K	probably benign	Het
Pdlim2	C	T	14: 70,164,779	R296H	probably damaging	Het
Pid1	T	A	1: 84,038,438	I69F	probably damaging	Het
Pkhd1	A	G	1: 20,537,360	S1091P	probably benign	Het
Plcb4	T	C	2: 136,002,594	I144T	probably benign	Het
Plxnd1	T	C	6: 115,962,764	N1418S	probably benign	Het
Pmm1	T	C	15: 81,956,400	T82A	probably benign	Het
Prrc2b	C	A	2: 32,223,464	Q1970K	probably damaging	Het
Ptprz1	C	T	6: 23,000,650	T913M	possibly damaging	Het
Ralgapa1	T	C	12: 55,612,800		probably null	Het
Rbm8a2	T	C	1: 175,978,854	E19G	possibly damaging	Het
Rgs3	T	C	4: 62,690,504	S336P	probably damaging	Het
Serpina11	G	T	12: 103,985,974	T179K	probably damaging	Het
Serpina1f	T	C	12: 103,693,396	N209S	possibly damaging	Het
Serpinf2	G	A	11: 75,436,762	T159I	probably benign	Het
Slc19a1	T	C	10: 77,041,924	C98R	possibly damaging	Het
Slc22a20	A	T	19: 5,971,525	I483N	possibly damaging	Het
Spata31d1d	A	G	13: 59,731,621	C34R	possibly damaging	Het
Stoml2	G	T	4: 43,030,243	Y119*	probably null	Het
Susd1	A	G	4: 59,349,843	L531P	possibly damaging	Het
Tex45	A	T	8: 3,479,028	D201V	probably benign	Het
Tln1	C	T	4: 43,553,083		probably null	Het
Tmem39b	A	C	4: 129,693,923	S32A	probably benign	Het
Tmx3	T	C	18: 90,527,913	F206S	probably damaging	Het
Tnfsf14	T	C	17: 57,190,638	D198G	possibly damaging	Het
Trappc10	A	G	10: 78,199,042		probably null	Het
Tssk2	A	G	16: 17,898,739	D2G	possibly damaging	Het
Ttn	T	C	2: 76,771,641	N18559S	possibly damaging	Het
Ube3b	G	A	5: 114,389,074	V118M	probably damaging	Het
Vmn1r23	T	C	6: 57,926,619	D58G	probably benign	Het
Vmn2r53	T	A	7: 12,601,439	Y98F	probably damaging	Het
Vmn2r58	T	A	7: 41,864,170	N350Y	probably benign	Het
Vmn2r82	A	T	10: 79,356,685	H32L	probably benign	Het
Wsb1	T	C	11: 79,240,386	I395V	probably benign	Het
Zfat	T	C	15: 68,179,860	D695G	probably benign	Het
Zfp358	G	T	8: 3,496,995	V526F	possibly damaging	Het
Zfp651	A	G	9: 121,762,637	T8A	possibly damaging	Het
Zmat1	A	G	X: 134,973,112	L476P	possibly damaging	Het

Other mutations in Knstrn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02370:Knstrn	APN	2	118823788	critical splice donor site	probably null
lychee	UTSW	2	118830980	intron	probably benign
R0529:Knstrn	UTSW	2	118830980	intron	probably benign
R2203:Knstrn	UTSW	2	118830975	unclassified	probably null
R2204:Knstrn	UTSW	2	118830975	unclassified	probably null
R2430:Knstrn	UTSW	2	118834103	utr 3 prime	probably benign
R4672:Knstrn	UTSW	2	118834031	missense	probably damaging	0.98
R4672:Knstrn	UTSW	2	118834032	missense	possibly damaging	0.93
R5554:Knstrn	UTSW	2	118833963	intron	probably benign
R5954:Knstrn	UTSW	2	118830955	intron	probably benign
R6695:Knstrn	UTSW	2	118814242	missense	probably damaging	0.99
R6981:Knstrn	UTSW	2	118834094	missense	possibly damaging	0.80
R7269:Knstrn	UTSW	2	118831388	intron	probably null

Predicted Primers

Posted On

2014-10-02