Mutagenetix > Incidental Mutation

Incidental Mutation 'R0076:Mndal'

17322

Institutional Source

Beutler Lab

Gene Symbol

Mndal

Ensembl Gene

ENSMUSG00000090272

Gene Name

myeloid nuclear differentiation antigen like

Synonyms

Gm2785

MMRRC Submission

038363-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R0076 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

173849126-173942491 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 173874447 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 96 (C96*)

Ref Sequence

ENSEMBL: ENSMUSP00000140191 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111210] [ENSMUST00000186442] [ENSMUST00000188804] [ENSMUST00000190071] [ENSMUST00000190651]

AlphaFold

D0QMC3

Predicted Effect

probably null
Transcript: ENSMUST00000111210
AA Change: C96*

SMART Domains

Protein: ENSMUSP00000106841
Gene: ENSMUSG00000090272
AA Change: C96*

Domain	Start	End	E-Value	Type
PYRIN	5	83	3.71e-20	SMART
internal_repeat_1	152	166	2.38e-7	PROSPERO
low complexity region	170	200	N/A	INTRINSIC
internal_repeat_1	208	222	2.38e-7	PROSPERO
low complexity region	225	249	N/A	INTRINSIC
low complexity region	276	292	N/A	INTRINSIC
low complexity region	294	305	N/A	INTRINSIC
Pfam:HIN	311	479	3.4e-76	PFAM
low complexity region	497	507	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000186442
AA Change: C96*

SMART Domains

Protein: ENSMUSP00000140539
Gene: ENSMUSG00000090272
AA Change: C96*

Domain	Start	End	E-Value	Type
PYRIN	5	83	1.8e-24	SMART
internal_repeat_1	152	166	4.72e-7	PROSPERO
low complexity region	170	200	N/A	INTRINSIC
internal_repeat_1	208	222	4.72e-7	PROSPERO
low complexity region	225	237	N/A	INTRINSIC
low complexity region	239	250	N/A	INTRINSIC
Pfam:HIN	258	427	2.9e-83	PFAM
low complexity region	444	454	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187636

Predicted Effect

probably null
Transcript: ENSMUST00000188804
AA Change: C96*

SMART Domains

Protein: ENSMUSP00000140610
Gene: ENSMUSG00000090272
AA Change: C96*

Domain	Start	End	E-Value	Type
PYRIN	5	83	3.71e-20	SMART
internal_repeat_1	152	166	2.38e-7	PROSPERO
low complexity region	170	200	N/A	INTRINSIC
internal_repeat_1	208	222	2.38e-7	PROSPERO
low complexity region	225	249	N/A	INTRINSIC
low complexity region	276	292	N/A	INTRINSIC
low complexity region	294	305	N/A	INTRINSIC
Pfam:HIN	311	480	4.3e-86	PFAM
low complexity region	497	507	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189501

Predicted Effect

probably benign
Transcript: ENSMUST00000190071

SMART Domains

Protein: ENSMUSP00000141055
Gene: ENSMUSG00000090272

Domain	Start	End	E-Value	Type
internal_repeat_1	21	35	3.67e-8	PROSPERO
low complexity region	39	69	N/A	INTRINSIC
internal_repeat_1	77	91	3.67e-8	PROSPERO
low complexity region	94	106	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000190651
AA Change: C96*

SMART Domains

Protein: ENSMUSP00000140191
Gene: ENSMUSG00000090272
AA Change: C96*

Domain	Start	End	E-Value	Type
PYRIN	5	83	1.8e-24	SMART
low complexity region	170	182	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191500

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 89.9%
3x: 87.5%
10x: 81.6%
20x: 72.8%

Validation Efficiency

92% (83/90)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	G	7: 120,373,685		probably benign	Het
Acpp	A	G	9: 104,324,218		probably benign	Het
Ada	T	A	2: 163,727,603		probably benign	Het
Ankrd17	T	A	5: 90,244,406	K1693*	probably null	Het
Arhgef38	T	A	3: 133,160,746	H210L	possibly damaging	Het
Car10	G	A	11: 93,490,597	E129K	possibly damaging	Het
Cask	A	G	X: 13,678,274		probably benign	Het
Cd19	T	C	7: 126,410,862	D406G	probably damaging	Het
Cd93	T	C	2: 148,442,136	D430G	probably benign	Het
Cds1	T	C	5: 101,817,840		probably benign	Het
Cerkl	A	T	2: 79,343,289	S259T	possibly damaging	Het
Cog8	T	C	8: 107,054,133	I164M	possibly damaging	Het
Col4a1	G	A	8: 11,218,713	P1009L	probably damaging	Het
Col9a1	G	A	1: 24,237,497		probably null	Het
Dcc	G	A	18: 71,321,046	Q1241*	probably null	Het
Dock3	A	C	9: 106,911,486		probably benign	Het
Dus1l	A	T	11: 120,792,808		probably benign	Het
Dvl2	G	A	11: 70,008,100	E438K	probably damaging	Het
Eif3g	A	G	9: 20,897,753	F85S	probably damaging	Het
Fam234b	A	G	6: 135,227,226	M456V	probably benign	Het
Fbxo47	G	A	11: 97,857,655		probably benign	Het
Fyb2	A	G	4: 104,945,464	T188A	possibly damaging	Het
Gm11437	T	C	11: 84,148,636	T288A	possibly damaging	Het
Gm5546	T	A	3: 104,353,132		noncoding transcript	Het
Gmfb	C	A	14: 46,817,455	A11S	probably benign	Het
Gpat4	G	A	8: 23,190,705		probably benign	Het
Ifitm6	T	A	7: 141,016,007	R124S	possibly damaging	Het
Il17rd	T	A	14: 27,094,854	L172Q	probably damaging	Het
Il4	A	T	11: 53,613,914	L13Q	probably damaging	Het
Kif2b	A	G	11: 91,575,909	M516T	probably damaging	Het
Kmt2a	A	G	9: 44,830,059		probably benign	Het
Maats1	G	A	16: 38,302,684	Q661*	probably null	Het
Mark1-ps1	T	A	17: 53,947,877		noncoding transcript	Het
Mroh1	T	C	15: 76,451,140	S1365P	probably benign	Het
Mrpl12	A	G	11: 120,485,442		probably benign	Het
Mthfsd	C	A	8: 121,098,739	V270F	probably benign	Het
Nbas	T	A	12: 13,324,336	V555D	probably damaging	Het
Pcdhb16	T	C	18: 37,478,359	V124A	probably damaging	Het
Pla2g10	T	A	16: 13,715,518	Y131F	possibly damaging	Het
Plec	T	C	15: 76,191,414		probably benign	Het
Polr2b	T	A	5: 77,326,561	V415E	possibly damaging	Het
Pou6f1	G	A	15: 100,587,836	Q106*	probably null	Het
Ptprd	T	C	4: 75,947,039		probably benign	Het
Rad54b	G	A	4: 11,609,480		probably benign	Het
Rspo1	G	A	4: 124,991,397	R22Q	probably benign	Het
Scn7a	A	G	2: 66,714,037	V370A	probably benign	Het
Sec1	A	G	7: 45,678,891	V244A	probably damaging	Het
Serac1	A	G	17: 6,064,937		probably benign	Het
Slco2b1	A	T	7: 99,685,501	Y254*	probably null	Het
Steap3	G	A	1: 120,227,730	R500C	probably damaging	Het
Stk10	A	G	11: 32,603,722	T580A	probably benign	Het
Tpo	C	T	12: 30,104,023	G228R	probably damaging	Het
Tpx2	T	C	2: 152,893,683	F744L	probably damaging	Het
Ube3b	G	T	5: 114,408,217		probably null	Het
Vmn2r84	A	G	10: 130,394,193	S17P	probably damaging	Het
Vps13d	A	T	4: 145,164,694		probably benign	Het
Zfp532	T	A	18: 65,685,627	S851R	probably benign	Het
Zfp623	G	A	15: 75,947,209	E5K	probably benign	Het

Other mutations in Mndal

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01363:Mndal	APN	1	173857456	missense	possibly damaging	0.68
IGL02309:Mndal	APN	1	173874455	missense	probably damaging	0.98
IGL02559:Mndal	APN	1	173872920	missense	probably benign	0.06
IGL02637:Mndal	APN	1	173857437	missense	possibly damaging	0.63
LCD18:Mndal	UTSW	1	173880218	unclassified	probably benign
R0123:Mndal	UTSW	1	173857513	splice site	probably benign
R0134:Mndal	UTSW	1	173857513	splice site	probably benign
R0225:Mndal	UTSW	1	173857513	splice site	probably benign
R0976:Mndal	UTSW	1	173862845	missense	possibly damaging	0.70
R1081:Mndal	UTSW	1	173860222	missense	probably benign	0.01
R1497:Mndal	UTSW	1	173872875	missense	probably benign	0.04
R1522:Mndal	UTSW	1	173871466	missense	possibly damaging	0.68
R1630:Mndal	UTSW	1	173874392	missense	possibly damaging	0.52
R1874:Mndal	UTSW	1	173860367	unclassified	probably benign
R4183:Mndal	UTSW	1	173875771	missense	possibly damaging	0.95
R4544:Mndal	UTSW	1	173875664	nonsense	probably null
R4545:Mndal	UTSW	1	173875664	nonsense	probably null
R4907:Mndal	UTSW	1	173862690	missense	probably damaging	0.99
R5066:Mndal	UTSW	1	173875663	missense	probably damaging	1.00
R5853:Mndal	UTSW	1	173862504	missense	probably damaging	0.98
R6208:Mndal	UTSW	1	173857422	missense	possibly damaging	0.84
R6395:Mndal	UTSW	1	173871433	missense	possibly damaging	0.73
R6923:Mndal	UTSW	1	173884698	splice site	probably null
R6933:Mndal	UTSW	1	173875683	missense	probably damaging	1.00
R7030:Mndal	UTSW	1	173875594	missense	probably damaging	1.00
R7327:Mndal	UTSW	1	173875619	missense	unknown
R7648:Mndal	UTSW	1	173857395	missense	probably benign	0.01
R8130:Mndal	UTSW	1	173871545	nonsense	probably null
R8514:Mndal	UTSW	1	173860192	missense	possibly damaging	0.84
R8697:Mndal	UTSW	1	173872992	nonsense	probably null
R9134:Mndal	UTSW	1	173871530	missense	unknown
R9257:Mndal	UTSW	1	173862708	missense	probably damaging	1.00
R9458:Mndal	UTSW	1	173860183	missense	probably damaging	1.00
Z1177:Mndal	UTSW	1	173874404	missense	unknown

Posted On

2013-01-20