Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02637:Mndal'

301571

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mndal

Ensembl Gene

ENSMUSG00000090272

Gene Name

myeloid nuclear differentiation antigen like

Synonyms

Ifi212

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

IGL02637

Quality Score

Status

Chromosome

Chromosomal Location

173684786-173708038 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 173685003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 522 (N522I)

Ref Sequence

ENSEMBL: ENSMUSP00000140610 (fasta)

Gene Model

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

AlphaFold

D0QMC3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111210
AA Change: N522I

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106841
Gene: ENSMUSG00000090272
AA Change: N522I

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 benign
Transcript: ENSMUST00000186442
AA Change: N469I

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000140539
Gene: ENSMUSG00000090272
AA Change: N469I

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

possibly damaging
Transcript: ENSMUST00000188804
AA Change: N522I

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140610
Gene: ENSMUSG00000090272
AA Change: N522I

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: ENSMUST00000189474

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220623

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	A	G	7: 119,309,907 (GRCm39)	Y435C	probably damaging	Het
Adgrb1	C	T	15: 74,460,143 (GRCm39)		probably benign	Het
Ampd1	T	C	3: 103,002,199 (GRCm39)		probably benign	Het
Camk1g	G	A	1: 193,030,696 (GRCm39)	P338S	probably benign	Het
Cog3	T	C	14: 75,959,636 (GRCm39)		probably benign	Het
Crat	A	G	2: 30,296,401 (GRCm39)	V355A	probably benign	Het
Ctla2a	T	A	13: 61,083,899 (GRCm39)		probably benign	Het
Dnaaf9	C	A	2: 130,656,227 (GRCm39)		probably benign	Het
Efhb	A	G	17: 53,756,580 (GRCm39)	I357T	probably benign	Het
Fh1	T	C	1: 175,437,332 (GRCm39)	M256V	probably benign	Het
Gabrg3	A	G	7: 56,384,775 (GRCm39)	I262T	probably damaging	Het
Gata2	C	T	6: 88,181,558 (GRCm39)		probably benign	Het
Gm6356	A	G	14: 6,970,926 (GRCm38)	V178A	possibly damaging	Het
Hacl1	T	C	14: 31,362,458 (GRCm39)	E63G	probably damaging	Het
Hid1	A	T	11: 115,241,421 (GRCm39)	I623N	probably damaging	Het
Hivep2	A	G	10: 14,006,452 (GRCm39)	K1017E	possibly damaging	Het
Ifi208	C	T	1: 173,506,508 (GRCm39)	T97I	probably benign	Het
Ighg1	T	C	12: 113,293,132 (GRCm39)	H186R	unknown	Het
Igkv8-26	T	C	6: 70,170,642 (GRCm39)	S78P	probably damaging	Het
Itih3	T	C	14: 30,637,617 (GRCm39)	N514S	probably benign	Het
Kcnj16	A	T	11: 110,916,439 (GRCm39)	D367V	probably benign	Het
Klhl23	A	T	2: 69,659,258 (GRCm39)	R428*	probably null	Het
Lgmn	T	C	12: 102,366,485 (GRCm39)	E216G	probably damaging	Het
Lmx1a	G	T	1: 167,672,192 (GRCm39)		probably benign	Het
Lrp5	C	T	19: 3,680,269 (GRCm39)	G405D	probably benign	Het
Lrrc74a	C	T	12: 86,788,521 (GRCm39)	R53*	probably null	Het
Lsm12	G	A	11: 102,054,948 (GRCm39)	R123C	probably benign	Het
Marchf5	T	A	19: 37,198,033 (GRCm39)		probably benign	Het
Mark3	C	A	12: 111,559,090 (GRCm39)	A44D	probably damaging	Het
Nbeal2	G	T	9: 110,455,045 (GRCm39)	R2611S	possibly damaging	Het
Nlrp4d	T	C	7: 10,116,482 (GRCm39)		noncoding transcript	Het
Npnt	T	A	3: 132,590,271 (GRCm39)	I507F	possibly damaging	Het
Or51a7	G	A	7: 102,622,250 (GRCm39)		probably benign	Het
Pde4a	T	A	9: 21,112,628 (GRCm39)	L91Q	probably damaging	Het
Pdzd2	C	T	15: 12,385,720 (GRCm39)	V1017M	probably benign	Het
Pkhd1l1	A	G	15: 44,427,720 (GRCm39)	N3259S	probably damaging	Het
Plxnb2	A	T	15: 89,048,260 (GRCm39)	H683Q	possibly damaging	Het
Reck	T	A	4: 43,898,009 (GRCm39)	S96T	probably damaging	Het
Rnf135	A	G	11: 80,089,704 (GRCm39)	K347E	probably benign	Het
Ro60	A	G	1: 143,646,526 (GRCm39)	V73A	probably damaging	Het
Rxfp2	A	G	5: 149,979,378 (GRCm39)	D246G	probably damaging	Het
Sdk1	C	T	5: 142,080,327 (GRCm39)	T1273I	probably damaging	Het
Slc12a8	A	T	16: 33,355,330 (GRCm39)	M49L	probably benign	Het
Slc5a11	A	T	7: 122,859,728 (GRCm39)		probably null	Het
Surf2	A	G	2: 26,809,790 (GRCm39)	K247E	probably damaging	Het
Sys1	G	A	2: 164,303,312 (GRCm39)	V9M	possibly damaging	Het
Tcf4	G	A	18: 69,480,421 (GRCm39)	D18N	probably damaging	Het
Tmc6	A	T	11: 117,658,416 (GRCm39)	V773D	possibly damaging	Het
Trappc13	T	C	13: 104,286,570 (GRCm39)	Q229R	probably benign	Het
Xkr5	T	C	8: 18,984,099 (GRCm39)	E481G	probably benign	Het
Xpo5	C	A	17: 46,546,905 (GRCm39)	D885E	probably damaging	Het

Other mutations in Mndal

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01363:Mndal	APN	1	173,685,022 (GRCm39)	missense	possibly damaging	0.68
IGL02309:Mndal	APN	1	173,702,021 (GRCm39)	missense	probably damaging	0.98
IGL02559:Mndal	APN	1	173,700,486 (GRCm39)	missense	probably benign	0.06
LCD18:Mndal	UTSW	1	173,707,784 (GRCm39)	unclassified	probably benign
R0076:Mndal	UTSW	1	173,702,013 (GRCm39)	nonsense	probably null
R0123:Mndal	UTSW	1	173,685,079 (GRCm39)	splice site	probably benign
R0134:Mndal	UTSW	1	173,685,079 (GRCm39)	splice site	probably benign
R0225:Mndal	UTSW	1	173,685,079 (GRCm39)	splice site	probably benign
R0976:Mndal	UTSW	1	173,690,411 (GRCm39)	missense	possibly damaging	0.70
R1081:Mndal	UTSW	1	173,687,788 (GRCm39)	missense	probably benign	0.01
R1497:Mndal	UTSW	1	173,700,441 (GRCm39)	missense	probably benign	0.04
R1522:Mndal	UTSW	1	173,699,032 (GRCm39)	missense	possibly damaging	0.68
R1630:Mndal	UTSW	1	173,701,958 (GRCm39)	missense	possibly damaging	0.52
R1874:Mndal	UTSW	1	173,687,933 (GRCm39)	unclassified	probably benign
R4183:Mndal	UTSW	1	173,703,337 (GRCm39)	missense	possibly damaging	0.95
R4544:Mndal	UTSW	1	173,703,230 (GRCm39)	nonsense	probably null
R4545:Mndal	UTSW	1	173,703,230 (GRCm39)	nonsense	probably null
R4907:Mndal	UTSW	1	173,690,256 (GRCm39)	missense	probably damaging	0.99
R5066:Mndal	UTSW	1	173,703,229 (GRCm39)	missense	probably damaging	1.00
R5853:Mndal	UTSW	1	173,690,070 (GRCm39)	missense	probably damaging	0.98
R6208:Mndal	UTSW	1	173,684,988 (GRCm39)	missense	possibly damaging	0.84
R6395:Mndal	UTSW	1	173,698,999 (GRCm39)	missense	possibly damaging	0.73
R6923:Mndal	UTSW	1	173,712,264 (GRCm39)	splice site	probably null
R6933:Mndal	UTSW	1	173,703,249 (GRCm39)	missense	probably damaging	1.00
R7030:Mndal	UTSW	1	173,703,160 (GRCm39)	missense	probably damaging	1.00
R7327:Mndal	UTSW	1	173,703,185 (GRCm39)	missense	unknown
R7648:Mndal	UTSW	1	173,684,961 (GRCm39)	missense	probably benign	0.01
R8130:Mndal	UTSW	1	173,699,111 (GRCm39)	nonsense	probably null
R8514:Mndal	UTSW	1	173,687,758 (GRCm39)	missense	possibly damaging	0.84
R8697:Mndal	UTSW	1	173,700,558 (GRCm39)	nonsense	probably null
R9134:Mndal	UTSW	1	173,699,096 (GRCm39)	missense	unknown
R9257:Mndal	UTSW	1	173,690,274 (GRCm39)	missense	probably damaging	1.00
R9458:Mndal	UTSW	1	173,687,749 (GRCm39)	missense	probably damaging	1.00
Z1177:Mndal	UTSW	1	173,701,970 (GRCm39)	missense	unknown

Posted On

2015-04-16