Mutagenetix > Incidental Mutations

Incidental Mutation 'R2923:Gm20939'

255644

Institutional Source

Beutler Lab

Gene Symbol

Gm20939

Ensembl Gene

ENSMUSG00000095193

Gene Name

predicted gene, 20939

Synonyms

MMRRC Submission

040508-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R2923 (G1)

Quality Score

106

Status

Validated

Chromosome

Chromosomal Location

94873986-94877497 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94877293 bp

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]

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: 97.5%
20x: 95.6%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,420,744	C368S	probably damaging	Het
Adamts3	T	C	5: 89,861,534	D90G	possibly damaging	Het
Astn2	T	C	4: 65,913,773	Y500C	probably damaging	Het
Atp12a	A	T	14: 56,374,622	T418S	probably benign	Het
Atp6v0a2	C	T	5: 124,717,917	T656M	possibly damaging	Het
Camsap2	G	A	1: 136,280,809	P971S	possibly damaging	Het
Ccdc116	T	C	16: 17,142,443	H170R	probably benign	Het
Clpb	A	G	7: 101,722,828	D257G	probably benign	Het
Cpb2	T	C	14: 75,256,033		probably null	Het
D430041D05Rik	G	A	2: 104,255,315	T164I	possibly damaging	Het
Dhx40	T	G	11: 86,789,263	Q416P	probably benign	Het
Dnah17	A	G	11: 118,093,547	F1636S	probably damaging	Het
Fhl3	T	C	4: 124,705,670	S13P	probably damaging	Het
Gapvd1	A	T	2: 34,688,863	I1249N	probably damaging	Het
Gm10604	C	T	4: 11,980,122	A61T	unknown	Het
Golga4	T	A	9: 118,559,343	S1844R	possibly damaging	Het
Grm6	G	C	11: 50,864,521	G827R	probably damaging	Het
Grm7	T	A	6: 111,495,905		probably null	Het
Hdc	G	A	2: 126,593,990	P654S	probably damaging	Het
Hoxb1	T	C	11: 96,366,293	L156P	probably benign	Het
Ipo9	G	T	1: 135,400,129	Q515K	probably benign	Het
Kcnk3	T	C	5: 30,622,070	S155P	probably damaging	Het
Mboat2	T	A	12: 24,954,240	W347R	probably damaging	Het
Mib1	C	T	18: 10,760,831	Q374*	probably null	Het
Ncor2	A	G	5: 125,055,791	F44S	probably damaging	Het
Nipal3	A	T	4: 135,477,465	I125N	probably damaging	Het
Olfr1218	A	G	2: 89,054,499	V309A	probably benign	Het
Olfr644	A	G	7: 104,068,587	V148A	probably benign	Het
Ovch2	A	G	7: 107,790,389	L317P	possibly damaging	Het
Pnpla2	T	A	7: 141,455,467	C61S	probably benign	Het
Ppp1r16b	G	T	2: 158,756,957	L312F	probably damaging	Het
Rdm1	T	A	11: 101,630,890	L157H	possibly damaging	Het
Rpl22	C	A	4: 152,327,545	T26N	possibly damaging	Het
Rptn	A	G	3: 93,398,708	Y1116C	possibly damaging	Het
Serpinb5	G	A	1: 106,876,040	S152N	probably benign	Het
Setx	GTGGCT	GT	2: 29,154,061		probably null	Het
St8sia1	A	T	6: 142,829,237	F205L	probably damaging	Het
Stab2	A	G	10: 86,861,461	Y1988H	probably damaging	Het
Susd3	A	T	13: 49,248,469	M1K	probably null	Het
Syne3	A	T	12: 104,968,084	L55Q	probably damaging	Het
Tmem2	A	G	19: 21,817,939	D732G	possibly damaging	Het
Tmx1	T	A	12: 70,466,121	C268S	probably benign	Het
Ttll1	T	C	15: 83,492,559	K321R	probably damaging	Het
Wisp2	G	A	2: 163,832,346	R222Q	probably benign	Het
Zdhhc18	G	T	4: 133,633,144	H82Q	probably benign	Het
Zhx1	T	C	15: 58,053,681	I390V	probably damaging	Het

Other mutations in Gm20939

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01542:Gm20939	APN	17	94874293	splice site	probably benign
R0015:Gm20939	UTSW	17	94876768	missense	probably benign	0.00
R1563:Gm20939	UTSW	17	94877094	missense	probably damaging	1.00
R1714:Gm20939	UTSW	17	94875806	missense	probably damaging	1.00
R2029:Gm20939	UTSW	17	94875824	splice site	probably benign
R2922:Gm20939	UTSW	17	94877293	missense	probably damaging	1.00
R3158:Gm20939	UTSW	17	94877293	missense	probably damaging	1.00
R3810:Gm20939	UTSW	17	94876710	missense	possibly damaging	0.46
R4158:Gm20939	UTSW	17	94876734	missense	possibly damaging	0.72
R4304:Gm20939	UTSW	17	94877281	missense	probably benign
R4307:Gm20939	UTSW	17	94876734	missense	possibly damaging	0.72
R5080:Gm20939	UTSW	17	94876991	missense	probably damaging	1.00
R5271:Gm20939	UTSW	17	94877155	nonsense	probably null
R5661:Gm20939	UTSW	17	94875779	missense	probably damaging	1.00
R5771:Gm20939	UTSW	17	94874339	missense	possibly damaging	0.93
R6800:Gm20939	UTSW	17	94877229	missense	possibly damaging	0.75
Z1088:Gm20939	UTSW	17	94877433	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCTATGAATGTAAGCAATGTGG -3'
(R):5'- TCATTTGTAAGGTTTCTCTCCAGTATG -3'

Sequencing Primer
(F):5'- AGTCTTTGGACGACACAGTC -3'
(R):5'- GTAAGGTTTCTCTCCAGTATGAATTC -3'

Posted On

2014-12-29