Mutagenetix > Incidental Mutation

Incidental Mutation 'R5954:Knstrn'

471032

Institutional Source

Beutler Lab

Gene Symbol

Knstrn

Ensembl Gene

ENSMUSG00000027331

Gene Name

kinetochore-localized astrin/SPAG5 binding

Synonyms

D2Ertd750e, 1700025D04Rik

MMRRC Submission

044143-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5954 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118644470-118667691 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 118661436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

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

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

unknown
Transcript: ENSMUST00000126045
AA Change: Q213R

SMART Domains

Protein: ENSMUSP00000122844
Gene: ENSMUSG00000027331
AA Change: Q213R

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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000148877

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

100% (62/62)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,616,390 (GRCm39)	I944T	probably benign	Het
Ank2	T	C	3: 126,791,510 (GRCm39)	T823A	probably benign	Het
Ankrd42	C	G	7: 92,273,175 (GRCm39)		probably null	Het
Anks4b	T	A	7: 119,781,396 (GRCm39)	N142K	possibly damaging	Het
Armc5	A	G	7: 127,841,444 (GRCm39)	E484G	probably benign	Het
B4galnt3	A	G	6: 120,202,149 (GRCm39)	F118L	possibly damaging	Het
Bbs12	C	T	3: 37,374,151 (GRCm39)	L200F	possibly damaging	Het
Cacna1h	A	G	17: 25,602,175 (GRCm39)	F1555S	probably damaging	Het
Cds2	A	G	2: 132,139,191 (GRCm39)	T145A	probably benign	Het
Cenps	C	A	4: 149,214,658 (GRCm39)		probably benign	Het
Chd6	A	C	2: 160,807,747 (GRCm39)	H1822Q	probably benign	Het
Chdh	C	T	14: 29,753,138 (GRCm39)	R16C	possibly damaging	Het
Cnga1	T	C	5: 72,762,221 (GRCm39)	D431G	probably damaging	Het
Dock8	G	A	19: 25,148,983 (GRCm39)	R1487Q	probably damaging	Het
Farp1	T	A	14: 121,460,079 (GRCm39)	V116D	probably damaging	Het
Fbxo24	T	A	5: 137,617,943 (GRCm39)	T274S	probably damaging	Het
Fmnl3	G	A	15: 99,223,791 (GRCm39)	R302W	probably damaging	Het
Gatad2b	T	C	3: 90,258,748 (GRCm39)	L257P	probably damaging	Het
Gm20402	C	T	3: 52,176,311 (GRCm39)	P30L	probably damaging	Het
Gm7932	C	T	6: 48,839,793 (GRCm39)		noncoding transcript	Het
Gpatch8	A	T	11: 102,371,767 (GRCm39)	D590E	unknown	Het
Herc1	T	G	9: 66,358,774 (GRCm39)		probably benign	Het
Hsd3b2	T	A	3: 98,618,875 (GRCm39)	I357F	probably benign	Het
Ipo5	A	G	14: 121,157,396 (GRCm39)	Y78C	probably damaging	Het
Itga8	C	A	2: 12,137,297 (GRCm39)	A23S	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kat2a	A	G	11: 100,599,724 (GRCm39)	V451A	possibly damaging	Het
Med23	A	G	10: 24,746,381 (GRCm39)		probably benign	Het
Mefv	A	G	16: 3,533,579 (GRCm39)	Y231H	probably benign	Het
Or4d10	A	T	19: 12,051,447 (GRCm39)	I183N	possibly damaging	Het
Or4e5	T	A	14: 52,727,624 (GRCm39)	I266F	probably benign	Het
Or5p69	T	A	7: 107,966,808 (GRCm39)	I37N	probably damaging	Het
Or8g21	A	G	9: 38,906,711 (GRCm39)	S7P	probably damaging	Het
Pak5	G	T	2: 135,958,383 (GRCm39)	T235K	probably benign	Het
Plppr3	G	T	10: 79,701,960 (GRCm39)	P294Q	probably benign	Het
Prepl	A	G	17: 85,372,077 (GRCm39)	F725L	probably benign	Het
Ptchd3	A	T	11: 121,727,413 (GRCm39)		probably benign	Het
Rprd2	T	C	3: 95,672,175 (GRCm39)	E1076G	probably damaging	Het
Sarm1	C	A	11: 78,381,428 (GRCm39)	E352*	probably null	Het
Sccpdh	T	A	1: 179,508,153 (GRCm39)	H14Q	probably benign	Het
Senp7	A	G	16: 55,990,234 (GRCm39)	I661V	probably benign	Het
Septin3	T	C	15: 82,174,628 (GRCm39)	F140L	probably damaging	Het
Spag6	G	T	2: 18,715,417 (GRCm39)	Q65H	probably damaging	Het
Tnni3	C	T	7: 4,522,539 (GRCm39)	R137H	probably damaging	Het
Trank1	A	G	9: 111,194,201 (GRCm39)	S742G	probably benign	Het
Ucn3	T	C	13: 3,991,413 (GRCm39)	I80V	probably benign	Het
Ulk2	A	T	11: 61,694,622 (GRCm39)		probably benign	Het
Uncx	C	T	5: 139,533,384 (GRCm39)	S483L	probably benign	Het
Vps39	A	G	2: 120,155,143 (GRCm39)	V550A	probably damaging	Het
Zfp697	C	A	3: 98,335,909 (GRCm39)	T558K	probably damaging	Het
Zfp790	G	T	7: 29,528,929 (GRCm39)	G538V	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
R2430:Knstrn	UTSW	2	118,664,584 (GRCm39)	utr 3 prime	probably benign
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
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'- CATTGCTGAGAACTCCATAATGC -3'
(R):5'- ATGGGCACTGCTCTTAGGAAC -3'

Sequencing Primer
(F):5'- AACTCCATAATGCCAAGCCTGTTTG -3'
(R):5'- GGCACTGCTCTTAGGAACTGTTTC -3'

Posted On

2017-03-31