Mutagenetix > Incidental Mutation

Incidental Mutation 'R5661:Gm20939'

444109

Institutional Source

Beutler Lab

Gene Symbol

Gm20939

Ensembl Gene

ENSMUSG00000095193

Gene Name

predicted gene, 20939

Synonyms

MMRRC Submission

043304-MU

Accession Numbers

Essential gene?

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

Stock #

R5661 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

95172317-95185749 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 95183207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 148 (H148N)

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: H148N

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

SMART Domains

Protein: ENSMUSP00000103642
Gene: ENSMUSG00000095193
AA Change: H148N

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

97% (57/59)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actg2	A	G	6: 83,497,754 (GRCm39)	I166T	probably damaging	Het
Actn1	T	C	12: 80,231,618 (GRCm39)	E273G	probably benign	Het
Arhgap15	G	A	2: 44,212,739 (GRCm39)	R403H	possibly damaging	Het
Arhgef26	T	C	3: 62,285,075 (GRCm39)		probably benign	Het
Avl9	A	T	6: 56,702,087 (GRCm39)	R81*	probably null	Het
Brd3	G	A	2: 27,351,584 (GRCm39)	T223I	possibly damaging	Het
Cacna2d4	T	C	6: 119,320,492 (GRCm39)	M890T	probably benign	Het
Carm1	A	G	9: 21,498,295 (GRCm39)	D433G	probably benign	Het
Ccdc40	A	G	11: 119,128,753 (GRCm39)	K427E	probably benign	Het
Ccdc80	T	C	16: 44,947,808 (GRCm39)	Y929H	probably damaging	Het
Ccr9	A	C	9: 123,609,164 (GRCm39)	Y282S	probably benign	Het
Det1	C	T	7: 78,492,958 (GRCm39)	E349K	probably damaging	Het
Enpep	T	A	3: 129,070,406 (GRCm39)	N834Y	probably damaging	Het
Epha7	A	T	4: 28,946,217 (GRCm39)		probably null	Het
Fap	A	T	2: 62,367,307 (GRCm39)		probably benign	Het
Foxn4	A	G	5: 114,411,053 (GRCm39)	C23R	probably benign	Het
Gad1-ps	T	C	10: 99,280,901 (GRCm39)		noncoding transcript	Het
Gli2	C	A	1: 118,781,032 (GRCm39)	E238*	probably null	Het
Gnl1	T	C	17: 36,293,447 (GRCm39)	Y211H	probably benign	Het
Gpat3	A	T	5: 101,033,808 (GRCm39)	K221*	probably null	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Hnrnph1	A	T	11: 50,275,507 (GRCm39)	Q415L	probably benign	Het
Kansl3	T	C	1: 36,388,038 (GRCm39)	E383G	possibly damaging	Het
Kdm5b	T	C	1: 134,526,811 (GRCm39)	V311A	probably benign	Het
Lipk	T	A	19: 34,009,727 (GRCm39)	M215K	probably benign	Het
Madd	A	G	2: 90,984,778 (GRCm39)		probably null	Het
Meltf	A	G	16: 31,700,744 (GRCm39)	E88G	possibly damaging	Het
Mis18bp1	A	T	12: 65,195,626 (GRCm39)	S713T	probably benign	Het
Mocos	T	A	18: 24,799,052 (GRCm39)		probably null	Het
Msto1	T	A	3: 88,820,192 (GRCm39)	D88V	possibly damaging	Het
Myo5a	A	G	9: 75,074,488 (GRCm39)	Y799C	probably benign	Het
Nectin4	T	A	1: 171,212,738 (GRCm39)	L357H	probably damaging	Het
Or4p22	G	A	2: 88,317,441 (GRCm39)	V122M	probably damaging	Het
Or6c2	A	T	10: 129,362,618 (GRCm39)	H174L	probably benign	Het
Pax2	A	G	19: 44,779,161 (GRCm39)	N179S	probably damaging	Het
Pcdhac2	C	A	18: 37,278,499 (GRCm39)	T493K	probably damaging	Het
Pgk2	G	T	17: 40,518,287 (GRCm39)	C380*	probably null	Het
Pi4k2b	G	A	5: 52,900,906 (GRCm39)		probably null	Het
Plcb3	A	G	19: 6,940,588 (GRCm39)	V416A	probably damaging	Het
Pom121l2	G	A	13: 22,168,425 (GRCm39)	G899R	possibly damaging	Het
Ppp4r1	T	C	17: 66,110,963 (GRCm39)		probably null	Het
Prkdc	G	A	16: 15,628,634 (GRCm39)	E3460K	possibly damaging	Het
Psmb3	A	G	11: 97,597,659 (GRCm39)	E75G	possibly damaging	Het
Retnlb	C	T	16: 48,638,429 (GRCm39)	T50I	probably benign	Het
Sec16a	A	G	2: 26,329,649 (GRCm39)	S789P	probably benign	Het
Sec24d	C	T	3: 123,136,734 (GRCm39)	T489I	probably damaging	Het
Sec24d	T	C	3: 123,136,791 (GRCm39)	M508T	possibly damaging	Het
Slc5a8	C	T	10: 88,755,290 (GRCm39)	L466F	possibly damaging	Het
Terf1	T	A	1: 15,889,888 (GRCm39)	V221E	probably damaging	Het
Trak1	A	G	9: 121,272,703 (GRCm39)	N187S	possibly damaging	Het
Trappc11	T	A	8: 47,965,642 (GRCm39)	D528V	probably damaging	Het
Tut4	A	G	4: 108,370,384 (GRCm39)	D761G	probably benign	Het
Vmn1r170	A	G	7: 23,306,231 (GRCm39)	N211S	possibly damaging	Het
Zfpm2	G	A	15: 40,959,467 (GRCm39)	W50*	probably null	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
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'- TGCCAATTATCTTTGCAGGC -3'
(R):5'- AGGTTTCTCTCCAGTATGAACTC -3'

Sequencing Primer
(F):5'- GGTAAAGCCTTTGCATGTCACAGTC -3'
(R):5'- GAACTCTTTCATGTTTTCGAAGTTG -3'

Posted On

2016-11-09