Mutagenetix > Incidental Mutation

Incidental Mutation 'RF006:Net1'

602843

Institutional Source

Beutler Lab

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 #

RF006 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3932018-3968220 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3937406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 245 (T245A)

Ref Sequence

ENSEMBL: ENSMUSP00000089464 (fasta)

Gene Model

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

AlphaFold

Q9Z206

Predicted Effect

probably benign
Transcript: ENSMUST00000091853
AA Change: T245A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000089464
Gene: ENSMUSG00000021215
AA Change: T245A

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

possibly damaging
Transcript: ENSMUST00000099946
AA Change: T191A

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097529
Gene: ENSMUSG00000021215
AA Change: T191A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000222504

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

97% (36/37)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd7	GTT	GT	2: 3,341,736 (GRCm39)		probably null	Het
Acp7	A	T	7: 28,314,204 (GRCm39)	N330K	possibly damaging	Het
Adam25	A	T	8: 41,208,834 (GRCm39)	H700L	probably benign	Het
Alg9	GGGTGG	GGGTGGTGG	9: 50,686,717 (GRCm39)		probably benign	Het
Atp8b3	A	T	10: 80,362,070 (GRCm39)	V689E	probably benign	Het
Atxn2l	A	G	7: 126,095,063 (GRCm39)	V533A	probably benign	Het
Catsperb	G	A	12: 101,542,238 (GRCm39)		probably null	Het
Ccdc121	C	T	5: 31,644,894 (GRCm39)	Q216*	probably null	Het
Ccdc13	T	C	9: 121,643,273 (GRCm39)	K376R	probably damaging	Het
Ccdc170	C	CCAA	10: 4,511,030 (GRCm39)		probably benign	Het
Cdh9	G	C	15: 16,855,916 (GRCm39)	R652P	probably damaging	Het
Cenpf	A	C	1: 189,389,583 (GRCm39)	C1416W	probably damaging	Het
Chga	GCA	GCATCA	12: 102,527,671 (GRCm39)		probably benign	Het
Cyb5r4	TGTGACAGACACACTGCCCAGGGAAG	TGTGACAGACACACTGCCCAGGGAAGTGACAGACACACTGCCCAGGGAAG	9: 86,922,478 (GRCm39)		probably benign	Het
Cyb5r4	CCCAGGGA	CCCAGGGATGTGAGAGACACGCTGGCCAGGGA	9: 86,922,494 (GRCm39)		probably benign	Het
Dennd3	T	C	15: 73,419,441 (GRCm39)	I744T	probably damaging	Het
Dnah1	C	T	14: 31,029,832 (GRCm39)	R491Q	probably benign	Het
Eif4a2	A	T	16: 22,929,028 (GRCm39)	M188L	possibly damaging	Het
Esf1	CTCCTCTTC	CTC	2: 140,006,294 (GRCm39)		probably benign	Het
Fat3	T	C	9: 15,909,913 (GRCm39)	I2030V	probably benign	Het
Gab3	CTT	CTTTTT	X: 74,043,633 (GRCm39)		probably benign	Het
Gins4	A	T	8: 23,717,183 (GRCm39)	V195E	possibly damaging	Het
Gm17402	TCCTCCTCC	TCCTCCTCCCCCTCCTCC	3: 67,272,892 (GRCm39)		probably benign	Het
Gm17604	CTCTCTTTC	CTC	X: 163,786,814 (GRCm39)		probably null	Het
Gm8369	GTGTGT	GTGTGTTTGTGT	19: 11,489,128 (GRCm39)		probably benign	Het
Gnpnat1	T	A	14: 45,620,900 (GRCm39)		probably null	Het
Inpp4a	A	C	1: 37,427,908 (GRCm39)	N651T	possibly damaging	Het
Ireb2	T	C	9: 54,788,768 (GRCm39)	F81L	possibly damaging	Het
Kcnh3	T	A	15: 99,137,809 (GRCm39)		probably null	Het
Kmt2b	CTCCTC	CTCCTCATCCTC	7: 30,285,802 (GRCm39)		probably benign	Het
Kmt2c	TG	TGCTGTGG	5: 25,520,770 (GRCm39)		probably benign	Het
Myt1	T	C	2: 181,439,566 (GRCm39)	S405P	probably damaging	Het
Nkx2-1	T	C	12: 56,580,332 (GRCm39)	T203A	probably damaging	Het
Oas3	T	C	5: 120,912,165 (GRCm39)	E75G	probably damaging	Het
Pappa	T	A	4: 65,242,110 (GRCm39)	D1491E	probably benign	Het
Pkhd1l1	C	A	15: 44,366,634 (GRCm39)	T704K	probably benign	Het
Pkhd1l1	TT	TTTTTTTTTGT	15: 44,421,903 (GRCm39)		probably benign	Het
Plscr1l1	A	T	9: 92,234,702 (GRCm39)	I146F	possibly damaging	Het
Ppp1r8	TCTCTCAC	TC	4: 132,557,928 (GRCm39)		probably benign	Het
Ppp2r3c	T	A	12: 55,340,600 (GRCm39)	I157F	probably benign	Het
Pramel34	A	T	5: 93,784,562 (GRCm39)	C301S	probably benign	Het
Rspo4	C	T	2: 151,709,797 (GRCm39)		probably null	Het
Rtn4	T	C	11: 29,656,919 (GRCm39)	S358P	possibly damaging	Het
Siglecg	T	A	7: 43,058,288 (GRCm39)	Y58*	probably null	Het
Slc4a1	C	T	11: 102,247,542 (GRCm39)		probably null	Het
Slc9b1	CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG	CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG	3: 135,063,303 (GRCm39)		probably benign	Het
Smc2	T	A	4: 52,442,276 (GRCm39)	D64E	probably benign	Het
Spaca1	CTCGC	CTCGCTATCGC	4: 34,049,853 (GRCm39)		probably benign	Het
Srrm2	A	G	17: 24,031,562 (GRCm39)	S236G	unknown	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Strn	TGCTCCCTTACCCCAGTC	TGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGAGCTCCCTTACCCCAGTC	17: 78,984,700 (GRCm39)		probably null	Het
Tfeb	CAG	CAGGAG	17: 48,097,038 (GRCm39)		probably benign	Het
Tktl2	A	T	8: 66,965,504 (GRCm39)	E354V	probably benign	Het
Tpte	A	G	8: 22,796,959 (GRCm39)	T94A	probably benign	Het
Usp40	A	C	1: 87,894,917 (GRCm39)	S868A	possibly damaging	Het
Vmn2r24	G	A	6: 123,783,378 (GRCm39)	C526Y	probably damaging	Het
Vmn2r58	CAAAATGATGTAGCACTT	C	7: 41,486,383 (GRCm39)		probably null	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
IGL02698:Net1	APN	13	3,937,569 (GRCm39)	critical splice donor site	probably null
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

Predicted Primers

PCR Primer
(F):5'- AGCAGGGACATTACTTATAAGCAG -3'
(R):5'- AAGGTCAGCTTTGCTCTTCGC -3'

Sequencing Primer
(F):5'- AGCAGATCTATAACTCAATGAAGTTC -3'
(R):5'- GCTTCCATTTGTCTCTGAGCAG -3'

Posted On

2019-12-04