Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02698:Net1'

304042

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Net1

Ensembl Gene

ENSMUSG00000021215

Gene Name

neuroepithelial cell transforming gene 1

Synonyms

Net1 homolog, 9530071N24Rik, 0610025H04Rik, mNET1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.239) question?

Stock #

IGL02698

Quality Score

Status

Chromosome

Chromosomal Location

3932018-3968220 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 3937569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000097529 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091853] [ENSMUST00000099946] [ENSMUST00000222504]

AlphaFold

Q9Z206

Predicted Effect

probably null
Transcript: ENSMUST00000091853

SMART Domains

Protein: ENSMUSP00000089464
Gene: ENSMUSG00000021215

Domain	Start	End	E-Value	Type
low complexity region	11	19	N/A	INTRINSIC
low complexity region	73	84	N/A	INTRINSIC
RhoGEF	178	355	2.84e-54	SMART
PH	387	503	5.79e-10	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000099946

SMART Domains

Protein: ENSMUSP00000097529
Gene: ENSMUSG00000021215

Domain	Start	End	E-Value	Type
RhoGEF	124	301	2.84e-54	SMART
PH	333	449	5.79e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220887

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222442

Predicted Effect

probably benign
Transcript: ENSMUST00000222504

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is part of the family of Rho guanine nucleotide exchange factors. Members of this family activate Rho proteins by catalyzing the exchange of GDP for GTP. The protein encoded by this gene interacts with RhoA within the cell nucleus and may play a role in repairing DNA damage after ionizing radiation. Pseudogenes of this gene are located on the long arms of chromosomes 1, 7 and 18. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit delayed mammary gland development during puberty associated with slower ductal extension, reduced ductal branching and epithelial cell proliferation, disorganized myoepithelial and ductal epithelial cells, and increased collagen deposition. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arpp21	T	A	9: 112,014,812 (GRCm39)		probably benign	Het
Car8	A	T	4: 8,185,598 (GRCm39)	I186N	probably benign	Het
Ccdc174	G	A	6: 91,867,834 (GRCm39)	S183N	probably benign	Het
Ccdc66	T	A	14: 27,212,749 (GRCm39)	K525*	probably null	Het
Cebpz	A	G	17: 79,243,003 (GRCm39)	V217A	probably benign	Het
Cfap36	C	A	11: 29,197,014 (GRCm39)		probably null	Het
Cpne4	T	C	9: 104,909,984 (GRCm39)	V527A	probably damaging	Het
Crh	T	G	3: 19,748,354 (GRCm39)	D96A	possibly damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dcp1a	A	T	14: 30,227,499 (GRCm39)		probably benign	Het
Ddhd1	A	T	14: 45,842,663 (GRCm39)		probably benign	Het
Dis3l2	C	T	1: 86,976,551 (GRCm39)		probably benign	Het
Dop1a	T	C	9: 86,406,412 (GRCm39)		probably benign	Het
Etv3	A	G	3: 87,443,885 (GRCm39)	T490A	possibly damaging	Het
Fastkd2	A	G	1: 63,787,158 (GRCm39)	T531A	probably benign	Het
Fat1	C	T	8: 45,476,201 (GRCm39)	A1749V	probably benign	Het
Fgfr1	T	A	8: 26,063,624 (GRCm39)	L761*	probably null	Het
Gcc2	A	G	10: 58,107,112 (GRCm39)	K683E	possibly damaging	Het
Gm5117	C	T	8: 32,229,767 (GRCm39)		noncoding transcript	Het
Hif1a	T	C	12: 73,977,545 (GRCm39)		probably null	Het
Inha	A	G	1: 75,486,527 (GRCm39)	E274G	probably damaging	Het
Itih2	G	T	2: 10,135,312 (GRCm39)	P26H	probably damaging	Het
Kif23	G	A	9: 61,832,283 (GRCm39)	T620I	possibly damaging	Het
Klhl30	T	C	1: 91,281,429 (GRCm39)	F10S	probably damaging	Het
Kmt2b	T	C	7: 30,278,118 (GRCm39)		probably benign	Het
Lmf2	A	C	15: 89,238,357 (GRCm39)	L174R	probably damaging	Het
Med13l	T	C	5: 118,900,894 (GRCm39)	L2216P	probably damaging	Het
Mmp1b	T	A	9: 7,384,877 (GRCm39)	L257F	probably damaging	Het
Nfasc	A	G	1: 132,562,475 (GRCm39)	V100A	probably benign	Het
Nr4a2	A	G	2: 56,998,172 (GRCm39)	F535S	probably damaging	Het
Ntn4	G	T	10: 93,480,521 (GRCm39)	A45S	probably benign	Het
Or2y1c	T	A	11: 49,361,690 (GRCm39)	F237L	probably benign	Het
Or4a27	T	A	2: 88,559,815 (GRCm39)	I43F	probably damaging	Het
Or52a20	T	C	7: 103,366,485 (GRCm39)	V228A	probably damaging	Het
Or5w17	T	A	2: 87,584,188 (GRCm39)	K50*	probably null	Het
Or8c9	A	G	9: 38,241,506 (GRCm39)	T208A	probably benign	Het
Pappa	A	T	4: 65,099,257 (GRCm39)	E592V	probably damaging	Het
Pate10	T	C	9: 35,652,416 (GRCm39)		probably benign	Het
Pi4ka	A	T	16: 17,109,032 (GRCm39)	I1630N	probably damaging	Het
Ptprb	A	G	10: 116,199,185 (GRCm39)	D1997G	probably benign	Het
Rc3h2	A	T	2: 37,295,312 (GRCm39)	S235T	probably damaging	Het
S1pr1	T	A	3: 115,505,746 (GRCm39)	K283*	probably null	Het
Scn5a	T	A	9: 119,350,163 (GRCm39)	T904S	probably damaging	Het
Sema6d	T	C	2: 124,495,643 (GRCm39)	L30P	possibly damaging	Het
Slc26a7	A	C	4: 14,593,867 (GRCm39)	S83A	possibly damaging	Het
Slco1a6	C	A	6: 142,048,737 (GRCm39)	G348*	probably null	Het
Srgap3	C	T	6: 112,723,889 (GRCm39)	V524I	probably damaging	Het
Stxbp3-ps	A	T	19: 9,535,688 (GRCm39)		noncoding transcript	Het
Sv2b	C	T	7: 74,790,726 (GRCm39)		probably null	Het
Sympk	T	C	7: 18,779,559 (GRCm39)	I663T	probably benign	Het
Ttn	C	A	2: 76,775,115 (GRCm39)	V1976L	probably damaging	Het
Uqcrc1	T	C	9: 108,777,011 (GRCm39)		probably null	Het
Vmn2r111	T	C	17: 22,790,226 (GRCm39)	Y260C	probably damaging	Het

Other mutations in Net1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00886:Net1	APN	13	3,943,391 (GRCm39)	utr 5 prime	probably benign
IGL02271:Net1	APN	13	3,937,663 (GRCm39)	missense	probably damaging	1.00
Rete	UTSW	13	3,934,845 (GRCm39)	missense	probably benign	0.00
R0580:Net1	UTSW	13	3,936,612 (GRCm39)	missense	probably damaging	1.00
R1028:Net1	UTSW	13	3,934,375 (GRCm39)	missense	probably damaging	1.00
R1070:Net1	UTSW	13	3,962,930 (GRCm39)	missense	probably benign	0.31
R1775:Net1	UTSW	13	3,937,642 (GRCm39)	missense	probably damaging	1.00
R1834:Net1	UTSW	13	3,962,941 (GRCm39)	unclassified	probably benign
R3968:Net1	UTSW	13	3,957,795 (GRCm39)	critical splice donor site	probably null
R4056:Net1	UTSW	13	3,934,949 (GRCm39)	missense	probably damaging	1.00
R4884:Net1	UTSW	13	3,934,252 (GRCm39)	nonsense	probably null
R4937:Net1	UTSW	13	3,934,905 (GRCm39)	missense	probably damaging	1.00
R5068:Net1	UTSW	13	3,936,740 (GRCm39)	missense	probably benign	0.30
R5123:Net1	UTSW	13	3,936,623 (GRCm39)	missense	probably damaging	0.97
R5389:Net1	UTSW	13	3,936,170 (GRCm39)	missense	probably damaging	1.00
R5390:Net1	UTSW	13	3,943,379 (GRCm39)	missense	probably benign	0.18
R5509:Net1	UTSW	13	3,934,320 (GRCm39)	missense	probably benign	0.00
R6548:Net1	UTSW	13	3,936,074 (GRCm39)	splice site	probably null
R7056:Net1	UTSW	13	3,934,845 (GRCm39)	missense	probably benign	0.00
R7138:Net1	UTSW	13	3,938,510 (GRCm39)	missense	probably damaging	1.00
R8314:Net1	UTSW	13	3,962,672 (GRCm39)	intron	probably benign
R8317:Net1	UTSW	13	3,957,856 (GRCm39)	missense	possibly damaging	0.86
R8375:Net1	UTSW	13	3,943,458 (GRCm39)	unclassified	probably benign
R8854:Net1	UTSW	13	3,934,214 (GRCm39)	missense	probably benign
R9070:Net1	UTSW	13	3,936,103 (GRCm39)	missense	probably damaging	1.00
R9569:Net1	UTSW	13	3,938,518 (GRCm39)	missense	probably benign	0.01
R9623:Net1	UTSW	13	3,937,569 (GRCm39)	critical splice donor site	probably null
RF006:Net1	UTSW	13	3,937,406 (GRCm39)	missense	probably benign	0.04

Posted On

2015-04-16