Mutagenetix > Incidental Mutation

Incidental Mutation 'R2922:Gm20939'

332079

Institutional Source

Beutler Lab

Gene Symbol

Gm20939

Ensembl Gene

ENSMUSG00000095193

Gene Name

predicted gene, 20939

Synonyms

MMRRC Submission

040507-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R2922 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

95172317-95185749 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95184721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 456 (H456Q)

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: H456Q

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

SMART Domains

Protein: ENSMUSP00000103642
Gene: ENSMUSG00000095193
AA Change: H456Q

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 90,009,393 (GRCm39)	D90G	possibly damaging	Het
Atp6v0a2	C	T	5: 124,794,981 (GRCm39)	T656M	possibly damaging	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 127,960,946 (GRCm39)		probably null	Het
Bsn	C	T	9: 107,985,385 (GRCm39)	V2890M	unknown	Het
Bsn	T	C	9: 107,992,668 (GRCm39)	E1028G	probably damaging	Het
Ccdc116	T	C	16: 16,960,307 (GRCm39)	H170R	probably benign	Het
Cdk11b	CAGAAGAAG	CAGAAG	4: 155,725,201 (GRCm39)		probably benign	Het
Cemip2	A	G	19: 21,795,303 (GRCm39)	D732G	possibly damaging	Het
Clpb	A	G	7: 101,372,035 (GRCm39)	D257G	probably benign	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Dlgap5	A	G	14: 47,627,898 (GRCm39)		probably null	Het
Dmwd	T	C	7: 18,810,270 (GRCm39)	F26L	probably damaging	Het
Eif5b	T	C	1: 38,057,100 (GRCm39)		probably benign	Het
Flii	A	G	11: 60,609,742 (GRCm39)	Y622H	probably damaging	Het
Gbp7	A	T	3: 142,240,333 (GRCm39)	E17V	probably benign	Het
Ghrh	T	C	2: 157,173,797 (GRCm39)		probably null	Het
Golga4	T	A	9: 118,388,411 (GRCm39)	S1844R	possibly damaging	Het
Hgd	T	C	16: 37,439,330 (GRCm39)	F213L	probably damaging	Het
Hoxb1	T	C	11: 96,257,119 (GRCm39)	L156P	probably benign	Het
Itga11	A	G	9: 62,675,912 (GRCm39)		probably benign	Het
Kcnn3	T	C	3: 89,428,329 (GRCm39)	V185A	probably damaging	Het
Lrriq1	T	C	10: 103,050,536 (GRCm39)	T739A	probably benign	Het
Mib1	C	T	18: 10,760,831 (GRCm39)	Q374*	probably null	Het
Myh9	A	G	15: 77,697,384 (GRCm39)	L10P	probably damaging	Het
Ncor2	A	G	5: 125,132,855 (GRCm39)	F44S	probably damaging	Het
Nr3c1	C	A	18: 39,620,156 (GRCm39)	A44S	possibly damaging	Het
Or10n1	G	A	9: 39,525,060 (GRCm39)	V66I	probably benign	Het
Or51a43	A	G	7: 103,717,794 (GRCm39)	V148A	probably benign	Het
Ovch2	A	G	7: 107,389,596 (GRCm39)	L317P	possibly damaging	Het
Pcolce2	T	A	9: 95,576,767 (GRCm39)	L346Q	probably damaging	Het
Rdm1	T	A	11: 101,521,716 (GRCm39)	L157H	possibly damaging	Het
Rptn	A	G	3: 93,306,015 (GRCm39)	Y1116C	possibly damaging	Het
Scn7a	A	G	2: 66,530,551 (GRCm39)		probably benign	Het
Slc24a2	A	G	4: 86,909,591 (GRCm39)	V660A	possibly damaging	Het
Tet3	A	G	6: 83,345,494 (GRCm39)	S1648P	probably damaging	Het
Tmem198b	G	A	10: 128,638,062 (GRCm39)	T167I	probably damaging	Het
Tmx1	T	A	12: 70,512,895 (GRCm39)	C268S	probably benign	Het
Ubr4	A	G	4: 139,206,811 (GRCm39)	N4886S	possibly damaging	Het
Usp47	A	G	7: 111,692,405 (GRCm39)	S956G	probably damaging	Het
Vmn2r60	T	A	7: 41,790,459 (GRCm39)	V482E	probably damaging	Het
Zfhx4	C	T	3: 5,468,724 (GRCm39)	P2986S	probably damaging	Het
Zfp507	T	C	7: 35,494,224 (GRCm39)	E273G	probably 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
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
R9285:Gm20939	UTSW	17	95,184,188 (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'- ATGTGGTAAAGTCTTTGGACGACAC -3'
(R):5'- TGGCTTTGTCACATTGGTTATATTCA -3'

Sequencing Primer
(F):5'- TTTGGACGACACAGTCATCTCAG -3'
(R):5'- CACAGAGTTACTCTTTAGTATGTGC -3'

Posted On

2015-07-27