Mutagenetix > Incidental Mutation

Incidental Mutation 'R6872:Gm436'

536197

Institutional Source

Beutler Lab

Gene Symbol

Gm436

Ensembl Gene

ENSMUSG00000078505

Gene Name

predicted gene 436

Synonyms

LOC230890

MMRRC Submission

044969-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R6872 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144669937-144686368 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 144670646 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 172 (L172*)

Ref Sequence

ENSEMBL: ENSMUSP00000101373 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105747]

AlphaFold

B1AVU6

Predicted Effect

probably null
Transcript: ENSMUST00000105747
AA Change: L172*

SMART Domains

Protein: ENSMUSP00000101373
Gene: ENSMUSG00000078505
AA Change: L172*

Domain	Start	End	E-Value	Type
transmembrane domain	2	24	N/A	INTRINSIC
Pfam:Abhydrolase_3	115	285	1.6e-29	PFAM
Pfam:Abhydrolase_3	292	381	9e-12	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	G	A	4: 144,623,180 (GRCm38)	V336I	probably benign	Het
Abcg3	T	C	5: 104,935,994 (GRCm38)	T637A	probably benign	Het
Ap3d1	G	A	10: 80,714,322 (GRCm38)	R692*	probably null	Het
Aqp2	C	T	15: 99,584,004 (GRCm38)	H260Y	probably benign	Het
Btbd2	C	A	10: 80,644,332 (GRCm38)	R383L	probably damaging	Het
Ccdc24	T	C	4: 117,869,926 (GRCm38)	T196A	probably benign	Het
Cdc20b	G	A	13: 113,083,975 (GRCm38)	G463S	probably damaging	Het
Ceacam5	A	T	7: 17,752,287 (GRCm38)	R570*	probably null	Het
Col12a1	A	T	9: 79,677,234 (GRCm38)	N1357K	probably damaging	Het
Cpa5	A	T	6: 30,614,054 (GRCm38)	Q65L	probably benign	Het
Ddo	A	C	10: 40,637,418 (GRCm38)	M119L	possibly damaging	Het
Dnah8	G	T	17: 30,762,679 (GRCm38)	L3058F	probably damaging	Het
Dnajb8	A	G	6: 88,223,040 (GRCm38)	N186S	probably damaging	Het
Dock4	T	C	12: 40,812,326 (GRCm38)		probably null	Het
Ear6	A	G	14: 51,854,428 (GRCm38)	Y144C	probably damaging	Het
Eng	T	A	2: 32,673,275 (GRCm38)	I281N	probably damaging	Het
Fgf2	A	G	3: 37,404,711 (GRCm38)	K85E	probably damaging	Het
Fubp1	A	T	3: 152,226,146 (GRCm38)	Q37L	probably benign	Het
Gabra2	G	T	5: 71,094,539 (GRCm38)	P22T	probably damaging	Het
Gm10401	T	C	5: 115,098,186 (GRCm38)		probably benign	Het
Gm6657	T	A	12: 78,197,367 (GRCm38)	D31E	probably damaging	Het
Gsdmc	T	C	15: 63,778,707 (GRCm38)	D275G	possibly damaging	Het
Iglv3	A	G	16: 19,241,284 (GRCm38)	I98T	probably damaging	Het
Lmod1	G	T	1: 135,365,141 (GRCm38)	R578L	probably damaging	Het
Mindy2	A	G	9: 70,616,762 (GRCm38)		probably null	Het
Neb	G	T	2: 52,293,645 (GRCm38)	Q1004K	probably damaging	Het
Nkx2-9	T	G	12: 56,611,889 (GRCm38)	N180T	probably benign	Het
Nlrp2	C	T	7: 5,308,710 (GRCm38)	R922H	probably benign	Het
Nol4l	T	C	2: 153,483,817 (GRCm38)	E116G	probably damaging	Het
Olfr201	A	G	16: 59,269,598 (GRCm38)	L23P	probably benign	Het
Olfr366	A	T	2: 37,219,977 (GRCm38)	M163L	possibly damaging	Het
Pcdhb20	A	C	18: 37,506,165 (GRCm38)	E581D	probably benign	Het
Pidd1	G	T	7: 141,439,418 (GRCm38)	T750K	probably benign	Het
Rab44	A	G	17: 29,139,810 (GRCm38)	E324G	probably benign	Het
Ramp3	T	C	11: 6,674,768 (GRCm38)	C21R	possibly damaging	Het
Rpap1	A	C	2: 119,775,369 (GRCm38)	M345R	probably damaging	Het
Serpina3k	A	C	12: 104,344,260 (GRCm38)	K350Q	probably benign	Het
St13	C	T	15: 81,366,346 (GRCm38)		probably null	Het
Stard9	A	T	2: 120,714,068 (GRCm38)	K4497*	probably null	Het
Tbx19	A	T	1: 165,147,633 (GRCm38)		probably null	Het
Tgoln1	A	G	6: 72,615,555 (GRCm38)	V314A	possibly damaging	Het
Them4	A	T	3: 94,324,371 (GRCm38)	I172F	probably damaging	Het
Tmc7	T	A	7: 118,547,623 (GRCm38)	Y477F	probably benign	Het
Tmem132a	A	G	19: 10,863,305 (GRCm38)	L421P	probably damaging	Het
Trim69	A	G	2: 122,167,910 (GRCm38)	E121G	probably damaging	Het
Vmn2r11	T	G	5: 109,047,110 (GRCm38)	R783S	possibly damaging	Het
Vmn2r62	T	A	7: 42,788,988 (GRCm38)	L141F	probably benign	Het
Zbtb7a	A	G	10: 81,148,071 (GRCm38)	N449S	possibly damaging	Het
Zfhx3	C	T	8: 108,800,641 (GRCm38)	R1057W	probably damaging	Het
Zfp180	G	T	7: 24,105,881 (GRCm38)	C575F	probably damaging	Het
Zfp462	G	A	4: 55,012,326 (GRCm38)	A1431T	probably benign	Het
Zfp592	T	C	7: 81,023,828 (GRCm38)	V180A	probably benign	Het
Zfp605	C	T	5: 110,127,445 (GRCm38)	P143L	probably benign	Het
Zfp646	T	C	7: 127,883,333 (GRCm38)	S1561P	probably benign	Het
Zfp706	T	C	15: 37,001,946 (GRCm38)	T46A	possibly damaging	Het

Other mutations in Gm436

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01149:Gm436	APN	4	144,673,779 (GRCm38)	missense	probably benign	0.12
IGL01369:Gm436	APN	4	144,674,645 (GRCm38)	missense	possibly damaging	0.50
IGL01503:Gm436	APN	4	144,674,567 (GRCm38)	missense	probably damaging	0.99
IGL01505:Gm436	APN	4	144,674,618 (GRCm38)	missense	probably damaging	1.00
IGL01954:Gm436	APN	4	144,670,171 (GRCm38)	missense	probably damaging	1.00
IGL02447:Gm436	APN	4	144,674,699 (GRCm38)	missense	probably benign	0.02
IGL02804:Gm436	APN	4	144,670,439 (GRCm38)	missense	possibly damaging	0.95
R0373:Gm436	UTSW	4	144,686,220 (GRCm38)	missense	possibly damaging	0.54
R1124:Gm436	UTSW	4	144,670,275 (GRCm38)	missense	probably benign	0.00
R1598:Gm436	UTSW	4	144,670,424 (GRCm38)	missense	possibly damaging	0.60
R1734:Gm436	UTSW	4	144,670,026 (GRCm38)	missense	probably benign	0.04
R1763:Gm436	UTSW	4	144,669,959 (GRCm38)	missense	probably benign	0.24
R1968:Gm436	UTSW	4	144,670,623 (GRCm38)	missense	possibly damaging	0.83
R3055:Gm436	UTSW	4	144,674,698 (GRCm38)	missense	probably benign	0.16
R3056:Gm436	UTSW	4	144,674,698 (GRCm38)	missense	probably benign	0.16
R3930:Gm436	UTSW	4	144,670,128 (GRCm38)	missense	probably damaging	1.00
R5124:Gm436	UTSW	4	144,674,719 (GRCm38)	missense	probably damaging	1.00
R5407:Gm436	UTSW	4	144,670,325 (GRCm38)	missense	probably benign	0.01
R6302:Gm436	UTSW	4	144,670,190 (GRCm38)	nonsense	probably null
R6814:Gm436	UTSW	4	144,670,646 (GRCm38)	nonsense	probably null
R6988:Gm436	UTSW	4	144,686,325 (GRCm38)	missense	probably benign	0.01
R7131:Gm436	UTSW	4	144,670,067 (GRCm38)	missense	probably damaging	0.98
R7895:Gm436	UTSW	4	144,670,343 (GRCm38)	missense	possibly damaging	0.95
R8108:Gm436	UTSW	4	144,670,669 (GRCm38)	missense	probably benign	0.04
R8378:Gm436	UTSW	4	144,670,599 (GRCm38)	missense	probably benign	0.24
R8676:Gm436	UTSW	4	144,670,113 (GRCm38)	missense	possibly damaging	0.94
R8817:Gm436	UTSW	4	144,673,791 (GRCm38)	missense	probably benign	0.00
R9328:Gm436	UTSW	4	144,674,686 (GRCm38)	missense	probably benign	0.02
R9640:Gm436	UTSW	4	144,686,239 (GRCm38)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- TCAACAAGTCTTTGGAAAGAAGTGG -3'
(R):5'- CACGCTGAGGACTGAATCAG -3'

Sequencing Primer
(F):5'- TGGTAAAAGGAAATTAATGACCTGC -3'
(R):5'- TGAGGACTGAATCAGAATCAGTTACC -3'

Posted On

2018-10-18