Mutagenetix > Incidental Mutation

Incidental Mutation 'R5660:Gm5422'

444042

Institutional Source

Beutler Lab

Gene Symbol

Gm5422

Ensembl Gene

ENSMUSG00000039684

Gene Name

predicted pseudogene 5422

Synonyms

MMRRC Submission

043173-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.915) question?

Stock #

R5660 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31124133-31127039 bp(+) (GRCm39)

Type of Mutation

exon

DNA Base Change (assembly)

A to T at 31126048 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000050717

SMART Domains

Protein: ENSMUSP00000135967
Gene: ENSMUSG00000039684

Domain	Start	End	E-Value	Type
low complexity region	44	61	N/A	INTRINSIC
Pfam:PC_rep	438	474	6.8e-9	PFAM
Pfam:PC_rep	475	509	1.1e-8	PFAM
SCOP:d1gw5a_	603	760	4e-4	SMART
PDB:4CR4\|Z	648	901	1e-50	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216161

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,757,828 (GRCm39)	N1307S	probably benign	Het
Abcf1	A	T	17: 36,274,539 (GRCm39)	D41E	possibly damaging	Het
Adamts13	T	C	2: 26,886,761 (GRCm39)	V966A	probably benign	Het
Adamts2	A	T	11: 50,667,472 (GRCm39)	D470V	probably damaging	Het
Adar	T	C	3: 89,642,901 (GRCm39)	F261L	probably damaging	Het
Akap3	C	T	6: 126,842,254 (GRCm39)	A291V	probably damaging	Het
Akr1c6	G	A	13: 4,499,053 (GRCm39)	V214I	probably benign	Het
Ano5	G	A	7: 51,233,562 (GRCm39)	R658H	possibly damaging	Het
Arhgap11a	T	A	2: 113,672,255 (GRCm39)	I238F	possibly damaging	Het
Atg2b	A	T	12: 105,615,383 (GRCm39)	Y1024*	probably null	Het
Cad	T	A	5: 31,234,191 (GRCm39)	D1956E	probably damaging	Het
Cbs	A	T	17: 31,843,220 (GRCm39)	I237N	probably damaging	Het
Ccdc81	T	C	7: 89,542,337 (GRCm39)	T180A	probably benign	Het
Cftr	T	A	6: 18,313,686 (GRCm39)	N1303K	probably benign	Het
Col6a4	A	G	9: 105,873,315 (GRCm39)	S2227P	probably benign	Het
Crebbp	A	T	16: 3,972,722 (GRCm39)	M324K	possibly damaging	Het
Dst	A	G	1: 34,321,574 (GRCm39)	K4363R	probably damaging	Het
Eif2b4	A	T	5: 31,348,500 (GRCm39)	Y238N	probably benign	Het
Fam83c	G	A	2: 155,671,509 (GRCm39)	A642V	probably benign	Het
Fat2	T	A	11: 55,175,002 (GRCm39)	T1904S	probably benign	Het
Flt3	T	C	5: 147,306,291 (GRCm39)	N279S	possibly damaging	Het
Galnt4	A	G	10: 98,945,397 (GRCm39)	N374S	probably benign	Het
Gm14401	T	A	2: 176,778,224 (GRCm39)	H103Q	probably damaging	Het
Helb	G	A	10: 119,946,984 (GRCm39)	Q110*	probably null	Het
Ido1	T	C	8: 25,081,558 (GRCm39)	D41G	probably damaging	Het
Igfn1	A	G	1: 135,898,152 (GRCm39)	S805P	probably benign	Het
Matr3	C	A	18: 35,705,147 (GRCm39)	A24E	probably damaging	Het
Mmp23	C	T	4: 155,735,710 (GRCm39)	C287Y	probably damaging	Het
Mrnip	A	G	11: 50,087,918 (GRCm39)	R147G	probably null	Het
Msh6	A	G	17: 88,292,147 (GRCm39)	K301E	possibly damaging	Het
Or12d13	A	G	17: 37,647,535 (GRCm39)	L196P	probably damaging	Het
Or8g4	G	A	9: 39,662,063 (GRCm39)	C127Y	probably damaging	Het
Ptar1	T	A	19: 23,671,776 (GRCm39)	C60S	probably benign	Het
Rora	A	G	9: 68,561,203 (GRCm39)	S11G	probably benign	Het
Rps6ka5	G	T	12: 100,585,839 (GRCm39)	H151Q	possibly damaging	Het
Sgsh	A	G	11: 119,241,807 (GRCm39)	S100P	probably damaging	Het
Simc1	A	G	13: 54,694,902 (GRCm39)	T1229A	probably benign	Het
Slc26a11	T	C	11: 119,248,804 (GRCm39)	Y62H	probably damaging	Het
Slc5a8	C	T	10: 88,755,290 (GRCm39)	L466F	possibly damaging	Het
Smg1	C	T	7: 117,742,570 (GRCm39)	V3215I	probably benign	Het
Smyd2	G	A	1: 189,617,579 (GRCm39)	P285L	possibly damaging	Het
Themis2	T	C	4: 132,523,567 (GRCm39)		probably null	Het
Tln1	A	G	4: 43,547,732 (GRCm39)	V743A	probably damaging	Het
Tpo	T	A	12: 30,150,495 (GRCm39)	N462Y	possibly damaging	Het
Wnt2	T	A	6: 18,028,145 (GRCm39)	M30L	probably benign	Het
Zfyve9	T	C	4: 108,576,365 (GRCm39)	I239V	probably benign	Het

Other mutations in Gm5422

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01306:Gm5422	APN	10	31,125,432 (GRCm39)	exon	noncoding transcript
IGL01569:Gm5422	APN	10	31,125,897 (GRCm39)	exon	noncoding transcript
IGL01645:Gm5422	APN	10	31,126,069 (GRCm39)	exon	noncoding transcript
IGL02273:Gm5422	APN	10	31,126,003 (GRCm39)	exon	noncoding transcript
IGL02603:Gm5422	APN	10	31,125,436 (GRCm39)	exon	noncoding transcript
IGL02928:Gm5422	APN	10	31,126,250 (GRCm39)	exon	noncoding transcript
IGL03003:Gm5422	APN	10	31,126,840 (GRCm39)	exon	noncoding transcript
IGL03274:Gm5422	APN	10	31,126,348 (GRCm39)	exon	noncoding transcript
IGL03297:Gm5422	APN	10	31,125,727 (GRCm39)	exon	noncoding transcript
ANU23:Gm5422	UTSW	10	31,125,432 (GRCm39)	exon	noncoding transcript
R0010:Gm5422	UTSW	10	31,125,750 (GRCm39)	exon	noncoding transcript
R0506:Gm5422	UTSW	10	31,126,318 (GRCm39)	exon	noncoding transcript
R0560:Gm5422	UTSW	10	31,125,240 (GRCm39)	exon	noncoding transcript
R0573:Gm5422	UTSW	10	31,126,156 (GRCm39)	exon	noncoding transcript
R0652:Gm5422	UTSW	10	31,125,277 (GRCm39)	exon	noncoding transcript
R1210:Gm5422	UTSW	10	31,126,719 (GRCm39)	intron	noncoding transcript
R1259:Gm5422	UTSW	10	31,125,111 (GRCm39)	exon	noncoding transcript
R1352:Gm5422	UTSW	10	31,126,731 (GRCm39)	intron	noncoding transcript
R1631:Gm5422	UTSW	10	31,125,802 (GRCm39)	exon	noncoding transcript
R1707:Gm5422	UTSW	10	31,124,458 (GRCm39)	exon	noncoding transcript
R1893:Gm5422	UTSW	10	31,125,609 (GRCm39)	exon	noncoding transcript
R2011:Gm5422	UTSW	10	31,124,764 (GRCm39)	exon	noncoding transcript
R2132:Gm5422	UTSW	10	31,124,929 (GRCm39)	exon	noncoding transcript
R3427:Gm5422	UTSW	10	31,124,842 (GRCm39)	exon	noncoding transcript
R3772:Gm5422	UTSW	10	31,124,510 (GRCm39)	exon	noncoding transcript
R4703:Gm5422	UTSW	10	31,125,608 (GRCm39)	exon	noncoding transcript
R5539:Gm5422	UTSW	10	31,124,646 (GRCm39)	exon	noncoding transcript
R5603:Gm5422	UTSW	10	31,126,840 (GRCm39)	exon	noncoding transcript
R6124:Gm5422	UTSW	10	31,125,396 (GRCm39)	exon	noncoding transcript
R6178:Gm5422	UTSW	10	31,125,688 (GRCm39)	exon	noncoding transcript
R8263:Gm5422	UTSW	10	31,125,099 (GRCm39)	missense	noncoding transcript

Predicted Primers

PCR Primer
(F):5'- TCAATCACTTGGGGAAAGGCG -3'
(R):5'- GTTAGTGCCAGTGCTAAAGGTAC -3'

Sequencing Primer
(F):5'- AAGCTATTGAGGCCATCCTG -3'
(R):5'- GTGCTAAAGGTACAGCCCGAC -3'

Posted On

2016-11-09