Mutagenetix > Incidental Mutation

Incidental Mutation 'R5389:Net1'

425489

Institutional Source

Beutler Lab

Gene Symbol

Net1

Ensembl Gene

ENSMUSG00000021215

Gene Name

neuroepithelial cell transforming gene 1

Synonyms

Net1 homolog, 9530071N24Rik, 0610025H04Rik, mNET1

MMRRC Submission

042961-MU

Accession Numbers

Essential gene?

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

Stock #

R5389 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3932018-3968220 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3936170 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 305 (E305K)

Ref Sequence

ENSEMBL: ENSMUSP00000097529 (fasta)

Gene Model

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

AlphaFold

Q9Z206

Predicted Effect

probably damaging
Transcript: ENSMUST00000091853
AA Change: E359K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000089464
Gene: ENSMUSG00000021215
AA Change: E359K

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 damaging
Transcript: ENSMUST00000099946
AA Change: E305K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097529
Gene: ENSMUSG00000021215
AA Change: E305K

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

Meta Mutation Damage Score

0.4874

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (65/66)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,638,795 (GRCm39)	V398A	probably benign	Het
A430033K04Rik	T	A	5: 138,644,559 (GRCm39)	V148E	probably benign	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Ankrd26	T	A	6: 118,485,536 (GRCm39)	Q1446L	possibly damaging	Het
Anks6	A	T	4: 47,038,900 (GRCm39)		probably benign	Het
Arrb2	T	C	11: 70,329,484 (GRCm39)	S265P	probably damaging	Het
Baiap2	T	C	11: 119,887,496 (GRCm39)	S264P	probably damaging	Het
Cadps2	A	G	6: 23,329,103 (GRCm39)	V938A	probably damaging	Het
Cavin4	G	T	4: 48,663,907 (GRCm39)	V96F	probably damaging	Het
Cenpe	T	C	3: 134,965,149 (GRCm39)		probably null	Het
Crocc2	C	A	1: 93,143,363 (GRCm39)	Q1322K	probably benign	Het
Cryzl2	T	A	1: 157,289,546 (GRCm39)	C61*	probably null	Het
Dazl	T	C	17: 50,595,718 (GRCm39)	I56V	probably benign	Het
Dnah12	A	T	14: 26,456,904 (GRCm39)	D890V	probably damaging	Het
Dnah9	C	A	11: 65,986,140 (GRCm39)	E1165*	probably null	Het
Dnmt3l	T	A	10: 77,892,665 (GRCm39)		probably null	Het
Elp2	A	G	18: 24,739,960 (GRCm39)	N62S	possibly damaging	Het
Entr1	T	C	2: 26,275,559 (GRCm39)	D244G	probably damaging	Het
Fam216b	T	A	14: 78,322,503 (GRCm39)	H26L	possibly damaging	Het
Fbxw25	T	A	9: 109,481,954 (GRCm39)	Q244L	possibly damaging	Het
G530012D18Rik	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Gvin3	T	C	7: 106,197,442 (GRCm39)		noncoding transcript	Het
Igf2r	T	C	17: 12,944,303 (GRCm39)	Y400C	probably damaging	Het
Iqcc	A	G	4: 129,512,413 (GRCm39)	F20L	probably benign	Het
Klhl5	T	A	5: 65,298,625 (GRCm39)	L135M	possibly damaging	Het
Klk1b16	A	T	7: 43,790,412 (GRCm39)	M196L	possibly damaging	Het
Ltf	T	C	9: 110,858,719 (GRCm39)	M489T	possibly damaging	Het
Mctp2	G	T	7: 71,863,835 (GRCm39)	R343S	possibly damaging	Het
Nbas	T	A	12: 13,584,578 (GRCm39)		probably null	Het
Ncr1	A	T	7: 4,343,932 (GRCm39)	M177L	probably benign	Het
Nfx1	T	C	4: 40,985,000 (GRCm39)	F375L	probably damaging	Het
Notch3	T	A	17: 32,358,163 (GRCm39)	I1687L	probably benign	Het
Obsl1	A	T	1: 75,479,905 (GRCm39)		probably benign	Het
Or2ag16	A	T	7: 106,352,290 (GRCm39)	F102I	probably damaging	Het
Or2t46	C	G	11: 58,471,825 (GRCm39)	L52V	possibly damaging	Het
Or51v14	G	T	7: 103,260,797 (GRCm39)	Y254*	probably null	Het
Or5g23	A	G	2: 85,438,627 (GRCm39)	F209S	probably benign	Het
Or5j3	G	A	2: 86,128,561 (GRCm39)	V134M	possibly damaging	Het
Or5p79	A	C	7: 108,221,924 (GRCm39)	I302L	probably damaging	Het
Orai1	A	T	5: 123,167,564 (GRCm39)	M246L	probably benign	Het
Pcdhga12	G	A	18: 37,899,785 (GRCm39)	A206T	probably damaging	Het
Plxdc2	C	A	2: 16,654,998 (GRCm39)	T199K	probably damaging	Het
Prkd1	T	A	12: 50,389,920 (GRCm39)	I819F	probably damaging	Het
Ptpn9	T	C	9: 56,964,121 (GRCm39)		probably benign	Het
Rabl6	T	C	2: 25,478,666 (GRCm39)	E255G	probably damaging	Het
Sema3e	T	C	5: 14,286,099 (GRCm39)		probably benign	Het
Serpina3c	T	C	12: 104,115,699 (GRCm39)	M282V	possibly damaging	Het
Slco1a7	A	G	6: 141,686,193 (GRCm39)	F216L	probably benign	Het
Slco2b1	A	G	7: 99,335,132 (GRCm39)	I216T	probably damaging	Het
Slco6b1	T	C	1: 96,916,309 (GRCm39)		noncoding transcript	Het
Slco6d1	A	T	1: 98,371,369 (GRCm39)	I285F	probably benign	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Sp9	C	A	2: 73,104,641 (GRCm39)	N398K	probably damaging	Het
Sycp2	A	C	2: 178,019,495 (GRCm39)		probably null	Het
Tbc1d23	T	C	16: 57,019,291 (GRCm39)	D219G	probably damaging	Het
Tdpoz3	A	G	3: 93,734,179 (GRCm39)	R285G	probably benign	Het
Trim2	T	A	3: 84,074,960 (GRCm39)	Q694L	probably null	Het
Trim23	T	A	13: 104,328,541 (GRCm39)	V293D	probably damaging	Het
Ttn	A	G	2: 76,665,183 (GRCm39)		probably benign	Het
Vmn2r12	T	A	5: 109,238,261 (GRCm39)	Y493F	probably benign	Het
Vps41	T	A	13: 19,046,708 (GRCm39)	I753N	probably damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Yme1l1	G	A	2: 23,083,246 (GRCm39)	G571R	probably damaging	Het
Zfp322a	A	T	13: 23,541,149 (GRCm39)	C198S	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATGAGGAAGCAATGGCCTC -3'
(R):5'- AGTGGTACTTTCAAGTCTCGTGC -3'

Sequencing Primer
(F):5'- GAAGCAATGGCCTCCTTCCTG -3'
(R):5'- AGCCTTGAACTAGTTGCCCAGTATG -3'

Posted On

2016-08-04