Mutagenetix > Incidental Mutation

Incidental Mutation 'R9569:Net1'

721858

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

068966-MU

Accession Numbers

Essential gene?

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

Stock #

R9569 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3932018-3968220 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3938518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 123 (F123S)

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: F123S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000089464
Gene: ENSMUSG00000021215
AA Change: F123S

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: F69S

PolyPhen 2 Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097529
Gene: ENSMUSG00000021215
AA Change: F69S

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi2	T	A	1: 60,503,763 (GRCm39)	V356D	probably damaging	Het
Adgrd1	T	C	5: 129,256,701 (GRCm39)	V690A	possibly damaging	Het
Apba2	T	C	7: 64,393,138 (GRCm39)	M553T	possibly damaging	Het
Apeh	C	T	9: 107,971,609 (GRCm39)	V13M	unknown	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Apol7e	C	T	15: 77,601,933 (GRCm39)	T177I	probably damaging	Het
Bltp1	T	C	3: 37,066,770 (GRCm39)	M211T		Het
Bub1b	T	C	2: 118,468,884 (GRCm39)	I883T	probably damaging	Het
C9	T	C	15: 6,489,062 (GRCm39)	S140P	probably damaging	Het
Cbfa2t2	T	A	2: 154,346,485 (GRCm39)	I64N	probably benign	Het
Cd180	A	T	13: 102,842,486 (GRCm39)	I511F	possibly damaging	Het
Cic	T	C	7: 24,972,120 (GRCm39)	V617A	possibly damaging	Het
Clca3a2	A	C	3: 144,513,075 (GRCm39)		probably null	Het
D5Ertd579e	T	C	5: 36,759,979 (GRCm39)	T1394A	probably damaging	Het
Dclk1	A	T	3: 55,387,852 (GRCm39)	E422D	probably benign	Het
Depdc5	A	T	5: 33,025,321 (GRCm39)	D21V	probably damaging	Het
Dis3l	A	G	9: 64,236,829 (GRCm39)	F40S	unknown	Het
Duox1	T	C	2: 122,148,971 (GRCm39)	V82A	probably benign	Het
Dus2	T	C	8: 106,771,507 (GRCm39)	V211A	probably damaging	Het
Eif2ak4	G	A	2: 118,251,316 (GRCm39)	S326N	probably benign	Het
Fat3	A	C	9: 15,830,495 (GRCm39)	L153R		Het
Gpx8	C	T	13: 113,182,125 (GRCm39)	V103I	probably damaging	Het
Gtf2a1l	A	G	17: 89,001,948 (GRCm39)	D268G	probably benign	Het
Hc	T	C	2: 34,926,359 (GRCm39)	I342V	probably benign	Het
Hsp90ab1	T	A	17: 45,879,878 (GRCm39)	D546V	possibly damaging	Het
Ifi206	T	G	1: 173,314,209 (GRCm39)	D77A		Het
Igfbp1	A	G	11: 7,147,881 (GRCm39)		probably benign	Het
Kdm3a	T	C	6: 71,584,434 (GRCm39)	D559G	probably benign	Het
Kif2a	A	G	13: 107,105,246 (GRCm39)	I565T	probably benign	Het
Krt1c	T	C	15: 101,724,924 (GRCm39)	T229A	probably damaging	Het
Lcmt2	G	A	2: 120,970,522 (GRCm39)	A187V	probably damaging	Het
Mapk8ip1	A	G	2: 92,217,599 (GRCm39)	M241T	probably benign	Het
Mup15	T	C	4: 61,357,875 (GRCm39)		probably benign	Het
Myo9b	T	C	8: 71,811,629 (GRCm39)	V1912A	probably benign	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Naip5	T	C	13: 100,359,821 (GRCm39)	T472A	probably benign	Het
Or1j8	T	C	2: 36,191,946 (GRCm39)	Y132H	probably damaging	Het
Or52n2	C	T	7: 104,542,525 (GRCm39)	M103I	possibly damaging	Het
Or5h17	A	G	16: 58,820,228 (GRCm39)	Y60C	probably damaging	Het
Pcdhb13	T	C	18: 37,576,153 (GRCm39)	F177S	probably damaging	Het
Pclo	T	C	5: 14,907,065 (GRCm39)		probably null	Het
Perm1	A	G	4: 156,303,039 (GRCm39)	T528A	probably benign	Het
Pik3c2a	C	T	7: 115,957,939 (GRCm39)	A1116T	possibly damaging	Het
Prox2	G	A	12: 85,141,766 (GRCm39)	Q146*	probably null	Het
Psd	A	T	19: 46,308,717 (GRCm39)	C639S	possibly damaging	Het
Rffl	T	A	11: 82,703,264 (GRCm39)	T220S	probably benign	Het
Scn2a	A	G	2: 65,560,622 (GRCm39)	D1284G	probably damaging	Het
Scube1	T	C	15: 83,513,605 (GRCm39)	Y385C	probably damaging	Het
Sec14l3	A	T	11: 4,026,324 (GRCm39)	D388V	probably damaging	Het
Slc26a1	G	T	5: 108,819,460 (GRCm39)	Q596K	probably benign	Het
Slc6a19	T	C	13: 73,834,030 (GRCm39)	T343A	probably benign	Het
Slc7a4	A	G	16: 17,393,262 (GRCm39)	V179A		Het
Sox14	T	G	9: 99,757,562 (GRCm39)	D49A		Het
Spata31g1	G	C	4: 42,971,740 (GRCm39)	V358L	probably benign	Het
Timm22	A	G	11: 76,298,196 (GRCm39)	S56G	probably benign	Het
Tmub2	G	A	11: 102,179,153 (GRCm39)	W322*	probably null	Het
Tsc22d4	A	G	5: 137,756,428 (GRCm39)	T8A	probably benign	Het
Ttn	T	C	2: 76,539,652 (GRCm39)	I34445V	probably benign	Het
Tyms	A	T	5: 30,268,360 (GRCm39)	Y196*	probably null	Het
Ube2o	G	A	11: 116,434,823 (GRCm39)	T546M	probably damaging	Het
Umodl1	A	G	17: 31,217,143 (GRCm39)	Y1125C	probably damaging	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312 (GRCm39)		probably benign	Het
Unk	A	T	11: 115,950,035 (GRCm39)	Q747L	probably damaging	Het
Vmn1r170	A	G	7: 23,306,294 (GRCm39)	E232G	probably benign	Het
Vps41	A	G	13: 19,013,396 (GRCm39)	Y338C	possibly damaging	Het
Washc5	T	C	15: 59,215,980 (GRCm39)	M800V	probably benign	Het
Wt1	T	A	2: 104,993,711 (GRCm39)	I348N	possibly damaging	Het
Xirp2	A	G	2: 67,341,242 (GRCm39)	Y1161C	probably damaging	Het
Xpo7	A	G	14: 70,906,140 (GRCm39)	M1001T	possibly damaging	Het
Yeats2	A	T	16: 19,972,902 (GRCm39)	R19W	probably damaging	Het
Zfp142	T	C	1: 74,615,386 (GRCm39)	T476A	probably damaging	Het
Zfp229	T	C	17: 21,964,573 (GRCm39)	W268R	possibly damaging	Het
Zfp473	A	G	7: 44,388,971 (GRCm39)	F50S	probably damaging	Het
Zfp975	A	T	7: 42,311,413 (GRCm39)	M400K	probably benign	Het
Zkscan5	A	G	5: 145,144,419 (GRCm39)	M150V	probably benign	Het
Znfx1	T	A	2: 166,897,875 (GRCm39)	I350F		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
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'- TTCCATTCCTCTGGCAAGAC -3'
(R):5'- TTGTCAGGCTCCTCTAAGACC -3'

Sequencing Primer
(F):5'- GTCCAGGTACTAAGTGTTGCATACC -3'
(R):5'- AGGCTCCTCTAAGACCCTTTAC -3'

Posted On

2022-08-09