Mutagenetix > Incidental Mutation

Incidental Mutation 'R7327:Mndal'

568970

Institutional Source

Beutler Lab

Gene Symbol

Mndal

Ensembl Gene

ENSMUSG00000090272

Gene Name

myeloid nuclear differentiation antigen like

Synonyms

Ifi212

MMRRC Submission

045420-MU

Accession Numbers

Essential gene?

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

Stock #

R7327 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

173684786-173708038 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 173703185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 73 (D73E)

Ref Sequence

ENSEMBL: ENSMUSP00000140610 (fasta)

Gene Model

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

AlphaFold

D0QMC3

Predicted Effect

unknown
Transcript: ENSMUST00000111210
AA Change: D73E

SMART Domains

Protein: ENSMUSP00000106841
Gene: ENSMUSG00000090272
AA Change: D73E

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: D73E

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000140539
Gene: ENSMUSG00000090272
AA Change: D73E

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

unknown
Transcript: ENSMUST00000188804
AA Change: D73E

SMART Domains

Protein: ENSMUSP00000140610
Gene: ENSMUSG00000090272
AA Change: D73E

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

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 benign
Transcript: ENSMUST00000190651
AA Change: D73E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000140191
Gene: ENSMUSG00000090272
AA Change: D73E

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	C	T	16: 20,367,430 (GRCm39)	T3I	probably benign	Het
Ahi1	T	A	10: 20,862,976 (GRCm39)	V717E	probably damaging	Het
Anapc4	A	G	5: 53,002,672 (GRCm39)	T238A	probably damaging	Het
Arhgap27	A	T	11: 103,251,367 (GRCm39)	C120*	probably null	Het
Bdp1	A	T	13: 100,178,040 (GRCm39)	V1943D	probably damaging	Het
Cdc14b	A	G	13: 64,373,461 (GRCm39)	V141A	probably damaging	Het
Cfap46	G	T	7: 139,215,062 (GRCm39)		probably null	Het
Cgnl1	C	A	9: 71,633,165 (GRCm39)	R62L	possibly damaging	Het
Chaf1a	A	G	17: 56,369,573 (GRCm39)	S522G	probably benign	Het
Cox19	A	G	5: 139,328,402 (GRCm39)	F37S	probably damaging	Het
Csmd1	G	A	8: 16,108,721 (GRCm39)	S1894L	probably damaging	Het
Cyp4a12a	A	T	4: 115,184,756 (GRCm39)	R346W	probably damaging	Het
Dip2a	A	C	10: 76,108,396 (GRCm39)	C1315G	probably benign	Het
Dmxl2	A	C	9: 54,308,869 (GRCm39)	W1961G	probably damaging	Het
Dst	T	C	1: 34,240,486 (GRCm39)	L1945P	probably damaging	Het
Efr3a	A	G	15: 65,691,627 (GRCm39)	S92G	probably damaging	Het
Ep300	C	T	15: 81,511,515 (GRCm39)	T865I	unknown	Het
Ercc6	A	G	14: 32,248,361 (GRCm39)	E304G	probably benign	Het
Filip1l	A	C	16: 57,391,300 (GRCm39)	E629D	probably damaging	Het
Frem1	G	A	4: 82,938,992 (GRCm39)	T30I	possibly damaging	Het
Glb1	T	C	9: 114,246,126 (GRCm39)	F59S	probably benign	Het
Gli3	T	C	13: 15,900,144 (GRCm39)	L1177P	probably benign	Het
Gpatch2l	A	G	12: 86,303,646 (GRCm39)	T223A	probably damaging	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Hmcn1	A	T	1: 150,479,565 (GRCm39)	M4633K	probably benign	Het
Hoxc8	T	A	15: 102,899,542 (GRCm39)	Y111N	probably damaging	Het
Ifi207	A	G	1: 173,556,581 (GRCm39)	L726P	probably benign	Het
Iqcn	T	A	8: 71,169,453 (GRCm39)	M1181K	possibly damaging	Het
Iqgap2	T	A	13: 95,772,163 (GRCm39)	M1339L	probably benign	Het
Kif21b	A	G	1: 136,087,387 (GRCm39)	Q901R	possibly damaging	Het
Krtap4-8	C	A	11: 99,671,234 (GRCm39)	C79F	unknown	Het
Ldb3	T	C	14: 34,293,759 (GRCm39)	N155S	probably damaging	Het
Mad2l1	T	A	6: 66,516,794 (GRCm39)	V162E	probably benign	Het
Map7	T	A	10: 20,109,208 (GRCm39)	V87E	unknown	Het
Msantd1	T	C	5: 35,075,039 (GRCm39)	S34P	probably damaging	Het
Myh14	T	C	7: 44,260,977 (GRCm39)	Q1838R	possibly damaging	Het
Myh15	G	T	16: 48,993,369 (GRCm39)	R1668L	possibly damaging	Het
Ncoa7	A	G	10: 30,565,796 (GRCm39)	M666T	probably damaging	Het
Nol6	A	T	4: 41,116,686 (GRCm39)	L944Q	probably benign	Het
Or5h27	A	T	16: 59,006,376 (GRCm39)	F157I	unknown	Het
Orc1	A	G	4: 108,445,911 (GRCm39)	T10A	probably benign	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Pglyrp2	C	T	17: 32,634,893 (GRCm39)	A490T	probably benign	Het
Pirb	A	T	7: 3,720,187 (GRCm39)	C395*	probably null	Het
Ppp1r11	T	C	17: 37,261,900 (GRCm39)	R12G	possibly damaging	Het
Prlr	A	G	15: 10,346,524 (GRCm39)	D290G	probably benign	Het
Ptpn21	G	T	12: 98,646,360 (GRCm39)	R1033S	probably damaging	Het
Rad54l2	A	G	9: 106,570,660 (GRCm39)	L1220P	possibly damaging	Het
Rufy3	G	A	5: 88,790,811 (GRCm39)	R504H	probably damaging	Het
Scgb2b21	C	T	7: 33,219,330 (GRCm39)	V25I	probably benign	Het
Sh3bgrl2	T	C	9: 83,430,542 (GRCm39)	S11P	possibly damaging	Het
Slain2	A	T	5: 73,132,002 (GRCm39)	T498S	probably benign	Het
Slc12a4	C	T	8: 106,682,347 (GRCm39)	G121S	probably damaging	Het
Slc30a9	A	T	5: 67,499,462 (GRCm39)	I307F	probably damaging	Het
Snap91	C	T	9: 86,655,598 (GRCm39)	G800R	unknown	Het
Tnc	G	T	4: 63,882,999 (GRCm39)		probably null	Het
Trav21-dv12	T	C	14: 54,113,514 (GRCm39)		probably benign	Het
Txk	A	T	5: 72,873,226 (GRCm39)	I228N	probably damaging	Het
Vac14	T	C	8: 111,438,252 (GRCm39)	Y622H	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdr35	T	G	12: 9,037,312 (GRCm39)	M306R	probably benign	Het
Zan	A	T	5: 137,463,494 (GRCm39)	S562T	probably benign	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
IGL02637:Mndal	APN	1	173,685,003 (GRCm39)	missense	possibly damaging	0.63
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
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

Predicted Primers

PCR Primer
(F):5'- CCTCCAATACAAAGGATGTCTATTC -3'
(R):5'- GAGGACTATCAGTTTAGGACAGTC -3'

Sequencing Primer
(F):5'- ATTCCAAATGTTTCAACCCCTATTG -3'
(R):5'- GACTATCAGTTTAGGACAGTCAAGTC -3'

Posted On

2019-09-13