Mutagenetix > Incidental Mutation

Incidental Mutation 'R5080:Gm20939'

387100

Institutional Source

Beutler Lab

Gene Symbol

Gm20939

Ensembl Gene

ENSMUSG00000095193

Gene Name

predicted gene, 20939

Synonyms

MMRRC Submission

042669-MU

Accession Numbers

Essential gene?

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

Stock #

R5080 (G1)

Quality Score

133

Status

Validated

Chromosome

Chromosomal Location

95172317-95185749 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95184419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 356 (C356R)

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: C356R

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

SMART Domains

Protein: ENSMUSP00000103642
Gene: ENSMUSG00000095193
AA Change: C356R

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: 98.4%
10x: 96.4%
20x: 92.5%

Validation Efficiency

96% (54/56)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	G	A	14: 103,286,744 (GRCm39)	G16S	possibly damaging	Het
Adcy4	A	T	14: 56,009,832 (GRCm39)	M740K	probably damaging	Het
Atp1a2	T	C	1: 172,112,012 (GRCm39)		probably benign	Het
Atrn	T	A	2: 130,812,044 (GRCm39)	I663N	possibly damaging	Het
Cacna2d1	T	C	5: 16,567,394 (GRCm39)		probably null	Het
Carf	C	A	1: 60,189,772 (GRCm39)	Q631K	probably damaging	Het
Ces1d	T	C	8: 93,908,175 (GRCm39)	D306G	probably benign	Het
Corin	T	A	5: 72,511,194 (GRCm39)		probably benign	Het
Csf1r	T	C	18: 61,257,373 (GRCm39)	F575L	probably damaging	Het
Dcaf6	T	C	1: 165,247,690 (GRCm39)	D181G	probably damaging	Het
Dnah11	C	T	12: 118,162,565 (GRCm39)	M1I	probably null	Het
Dnah7b	C	T	1: 46,221,540 (GRCm39)	R1215*	probably null	Het
Dpp3	T	A	19: 4,965,108 (GRCm39)	D464V	probably benign	Het
Drosha	C	A	15: 12,842,229 (GRCm39)	A344D	probably benign	Het
Fat3	G	T	9: 15,910,634 (GRCm39)	S1789R	probably benign	Het
Fhip2a	A	T	19: 57,361,713 (GRCm39)	K134I	probably damaging	Het
Frg2f1	T	C	4: 119,388,230 (GRCm39)	T90A	possibly damaging	Het
Frrs1	T	C	3: 116,696,585 (GRCm39)	I544T	probably benign	Het
Ifi206	T	A	1: 173,301,414 (GRCm39)	I755F	possibly damaging	Het
Kntc1	T	A	5: 123,900,649 (GRCm39)	V249E	possibly damaging	Het
Lama5	A	T	2: 179,848,993 (GRCm39)	L230*	probably null	Het
Lce1e	C	T	3: 92,615,137 (GRCm39)	C70Y	unknown	Het
Ltbp2	T	C	12: 84,850,638 (GRCm39)	N892S	probably damaging	Het
Mfsd4b5	T	A	10: 39,846,570 (GRCm39)	M337L	probably damaging	Het
Noxo1	T	A	17: 24,918,331 (GRCm39)	C164S	probably damaging	Het
Or2y1b	G	T	11: 49,208,914 (GRCm39)	M180I	probably benign	Het
Or5j3	G	A	2: 86,128,258 (GRCm39)	V33M	probably benign	Het
Osbpl6	T	C	2: 76,354,429 (GRCm39)	S15P	probably benign	Het
Pcdh17	A	G	14: 84,770,750 (GRCm39)	Y1076C	probably benign	Het
Pik3c2a	T	A	7: 115,947,509 (GRCm39)	H1391L	probably damaging	Het
Plcg2	A	G	8: 118,316,742 (GRCm39)	Y573C	probably benign	Het
Prpf3	T	A	3: 95,741,109 (GRCm39)	H600L	probably benign	Het
Rilpl2	T	C	5: 124,607,876 (GRCm39)	T115A	probably benign	Het
Rpl15-ps6	A	G	15: 52,341,446 (GRCm39)		noncoding transcript	Het
Serpini1	T	C	3: 75,523,967 (GRCm39)	S192P	probably damaging	Het
Sp110	G	T	1: 85,523,776 (GRCm39)	Y18*	probably null	Het
Stard6	A	T	18: 70,629,293 (GRCm39)	I126F	probably damaging	Het
Strip2	T	A	6: 29,945,592 (GRCm39)	L660H	probably damaging	Het
Tmed3	G	A	9: 89,581,825 (GRCm39)	R213*	probably null	Het
Tns1	G	T	1: 73,992,099 (GRCm39)	P860T	probably damaging	Het
Togaram1	T	C	12: 65,030,177 (GRCm39)	S994P	probably benign	Het
Tomm34	G	A	2: 163,912,816 (GRCm39)		probably benign	Het
Trank1	G	A	9: 111,218,289 (GRCm39)	E1890K	probably damaging	Het
Wasf3	C	T	5: 146,397,907 (GRCm39)	H225Y	probably benign	Het
Wdr37	A	T	13: 8,897,710 (GRCm39)		probably null	Het
Zbtb7c	A	C	18: 76,270,413 (GRCm39)	D167A	probably benign	Het
Zkscan4	A	G	13: 21,665,498 (GRCm39)	T158A	probably benign	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
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'- AAATGTAATCAATGTGGTAAAGCCT -3'
(R):5'- TTGACCACACGCATAGGGTT -3'

Sequencing Primer
(F):5'- AGCCTTTGCAGAACATGGTC -3'
(R):5'- ACGCATAGGGTTTCTCTCCAGTATG -3'

Posted On

2016-06-06