Mutagenetix > Incidental Mutation

Incidental Mutation 'R9285:Gm20939'

703887

Institutional Source

Beutler Lab

Gene Symbol

Gm20939

Ensembl Gene

ENSMUSG00000095193

Gene Name

predicted gene, 20939

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R9285 (G1)

Quality Score

201.009

Status

Validated

Chromosome

Chromosomal Location

95172317-95185749 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95184188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 279 (F279L)

Ref Sequence

ENSEMBL: ENSMUSP00000103642 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108007]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000108007
AA Change: F279L

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

SMART Domains

Protein: ENSMUSP00000103642
Gene: ENSMUSG00000095193
AA Change: F279L

Domain	Start	End	E-Value	Type
KRAB	3	65	7.59e-15	SMART
ZnF_C2H2	130	152	5.21e-4	SMART
ZnF_C2H2	158	180	1.18e-2	SMART
ZnF_C2H2	186	208	2.12e-4	SMART
ZnF_C2H2	214	236	2.57e-3	SMART
ZnF_C2H2	242	264	1.3e-4	SMART
ZnF_C2H2	270	292	2.99e-4	SMART
ZnF_C2H2	298	320	7.9e-4	SMART
ZnF_C2H2	326	348	1.6e-4	SMART
ZnF_C2H2	354	376	4.24e-4	SMART
ZnF_C2H2	382	404	2.79e-4	SMART
ZnF_C2H2	410	432	5.14e-3	SMART
ZnF_C2H2	438	460	1.22e-4	SMART
ZnF_C2H2	466	488	4.17e-3	SMART
ZnF_C2H2	494	516	1.6e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	G	T	6: 128,526,756 (GRCm39)	T1085K	probably benign	Het
Asxl3	A	T	18: 22,654,989 (GRCm39)	I1000F	probably damaging	Het
Atp2c2	A	G	8: 120,465,141 (GRCm39)	M308V	probably benign	Het
Chd3	G	T	11: 69,249,954 (GRCm39)	R736S	possibly damaging	Het
Chst9	T	A	18: 15,586,017 (GRCm39)	H182L	probably damaging	Het
Cnot1	A	G	8: 96,452,746 (GRCm39)	F2112S	probably damaging	Het
Csmd1	A	T	8: 15,956,088 (GRCm39)	L3373H	probably damaging	Het
Ctsll3	T	A	13: 60,946,402 (GRCm39)	D303V	probably benign	Het
Cyp7b1	T	A	3: 18,151,564 (GRCm39)	K216N	probably damaging	Het
Dock9	A	C	14: 121,833,012 (GRCm39)	F1315V	probably benign	Het
Eme2	T	C	17: 25,108,132 (GRCm39)		probably benign	Het
Eml2	A	G	7: 18,925,568 (GRCm39)	I222M	probably damaging	Het
Ggcx	T	A	6: 72,395,402 (GRCm39)	Y164*	probably null	Het
Gm44511	T	C	6: 128,777,017 (GRCm39)		probably benign	Het
Gprin1	A	G	13: 54,886,523 (GRCm39)	S584P	probably damaging	Het
Ighv2-2	A	T	12: 113,551,903 (GRCm39)	Y112N	probably damaging	Het
Kansl3	T	C	1: 36,383,148 (GRCm39)		probably benign	Het
Kcnu1	T	A	8: 26,381,611 (GRCm39)	I449K	probably damaging	Het
Lima1	T	C	15: 99,678,687 (GRCm39)	R585G	probably damaging	Het
Lrrk2	T	A	15: 91,662,686 (GRCm39)	V1905E	probably damaging	Het
Map3k6	T	A	4: 132,972,870 (GRCm39)	V343E	probably damaging	Het
Mei1	T	C	15: 81,985,170 (GRCm39)	F279S		Het
Mgat3	A	G	15: 80,096,538 (GRCm39)	D455G	probably damaging	Het
Mycbp2	T	A	14: 103,434,753 (GRCm39)	Q2230L	probably damaging	Het
Myog	T	C	1: 134,218,895 (GRCm39)	F179S	possibly damaging	Het
Nlrc5	A	C	8: 95,199,604 (GRCm39)	I72L	probably damaging	Het
Or2ag1	T	C	7: 106,472,715 (GRCm39)	T246A	probably benign	Het
Or4k2	A	C	14: 50,424,122 (GRCm39)	V185G	probably benign	Het
Or4s2b	T	A	2: 88,508,680 (GRCm39)	H153Q	probably damaging	Het
Or5k15	T	A	16: 58,710,569 (GRCm39)	K5*	probably null	Het
Or5p5	C	T	7: 107,413,821 (GRCm39)	T10I	probably damaging	Het
Pcdh18	A	G	3: 49,707,786 (GRCm39)	L895P	probably damaging	Het
Pibf1	C	T	14: 99,480,345 (GRCm39)	T707M	probably benign	Het
Ptk2b	A	T	14: 66,410,844 (GRCm39)	Y418N	possibly damaging	Het
Ptx4	T	G	17: 25,343,930 (GRCm39)	Y393*	probably null	Het
Sass6	C	A	3: 116,422,354 (GRCm39)		probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Spatc1l	T	C	10: 76,398,264 (GRCm39)	V22A	probably damaging	Het
Strc	T	C	2: 121,195,279 (GRCm39)	E1668G	probably damaging	Het
Sulf2	T	A	2: 165,935,435 (GRCm39)	H226L	probably damaging	Het
Sun5	T	C	2: 153,709,426 (GRCm39)		probably benign	Het
Svep1	C	T	4: 58,084,809 (GRCm39)		probably null	Het
Tektl1	C	A	10: 78,588,234 (GRCm39)		probably benign	Het
Xylt2	A	T	11: 94,558,536 (GRCm39)	I540N	probably benign	Het
Zfp804b	T	C	5: 6,820,723 (GRCm39)	N780S	probably benign	Het
Zfp983	T	A	17: 21,876,520 (GRCm39)	M8K	possibly damaging	Het

Other mutations in Gm20939

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01542:Gm20939	APN	17	95,181,721 (GRCm39)	splice site	probably benign
R0015:Gm20939	UTSW	17	95,184,196 (GRCm39)	missense	probably benign	0.00
R1563:Gm20939	UTSW	17	95,184,522 (GRCm39)	missense	probably damaging	1.00
R1714:Gm20939	UTSW	17	95,183,234 (GRCm39)	missense	probably damaging	1.00
R2029:Gm20939	UTSW	17	95,183,252 (GRCm39)	splice site	probably benign
R2922:Gm20939	UTSW	17	95,184,721 (GRCm39)	missense	probably damaging	1.00
R2923:Gm20939	UTSW	17	95,184,721 (GRCm39)	missense	probably damaging	1.00
R3158:Gm20939	UTSW	17	95,184,721 (GRCm39)	missense	probably damaging	1.00
R3810:Gm20939	UTSW	17	95,184,138 (GRCm39)	missense	possibly damaging	0.46
R4158:Gm20939	UTSW	17	95,184,162 (GRCm39)	missense	possibly damaging	0.72
R4304:Gm20939	UTSW	17	95,184,709 (GRCm39)	missense	probably benign
R4307:Gm20939	UTSW	17	95,184,162 (GRCm39)	missense	possibly damaging	0.72
R5080:Gm20939	UTSW	17	95,184,419 (GRCm39)	missense	probably damaging	1.00
R5271:Gm20939	UTSW	17	95,184,583 (GRCm39)	nonsense	probably null
R5661:Gm20939	UTSW	17	95,183,207 (GRCm39)	missense	probably damaging	1.00
R5771:Gm20939	UTSW	17	95,181,767 (GRCm39)	missense	possibly damaging	0.93
R6800:Gm20939	UTSW	17	95,184,657 (GRCm39)	missense	possibly damaging	0.75
R8393:Gm20939	UTSW	17	95,183,207 (GRCm39)	missense	probably damaging	1.00
R8791:Gm20939	UTSW	17	95,184,648 (GRCm39)	missense	probably damaging	1.00
R9327:Gm20939	UTSW	17	95,184,424 (GRCm39)	missense	probably benign	0.12
R9348:Gm20939	UTSW	17	95,182,977 (GRCm39)	missense	probably damaging	1.00
R9599:Gm20939	UTSW	17	95,184,666 (GRCm39)	missense	probably damaging	1.00
R9686:Gm20939	UTSW	17	95,184,888 (GRCm39)	missense	probably damaging	1.00
Z1088:Gm20939	UTSW	17	95,184,861 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTAATGCTAGTCTCCAAGCACAT -3'
(R):5'- GATGACTGTGTCGTCCAAAGACTT -3'

Sequencing Primer
(F):5'- TCTCATGGTCAACTTCAAGCACATG -3'
(R):5'- GTCGTCCAAAGACTTTACCACATTG -3'

Posted On

2022-03-25