Mutagenetix > Incidental Mutation

Incidental Mutation 'R0123:Mndal'

21140

Institutional Source

Beutler Lab

Gene Symbol

Mndal

Ensembl Gene

ENSMUSG00000090272

Gene Name

myeloid nuclear differentiation antigen like

Synonyms

Ifi212

MMRRC Submission

038408-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R0123 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

173684786-173708038 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 173685079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140610 (fasta)

Gene Model

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

AlphaFold

D0QMC3

Predicted Effect

probably benign
Transcript: ENSMUST00000111210

SMART Domains

Protein: ENSMUSP00000106841
Gene: ENSMUSG00000090272

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

SMART Domains

Protein: ENSMUSP00000140539
Gene: ENSMUSG00000090272

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

probably benign
Transcript: ENSMUST00000188804

SMART Domains

Protein: ENSMUSP00000140610
Gene: ENSMUSG00000090272

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.1%

Validation Efficiency

99% (71/72)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	T	C	19: 21,575,565 (GRCm39)		probably benign	Het
Abca16	T	A	7: 120,139,378 (GRCm39)	L1470Q	probably damaging	Het
Abraxas2	G	A	7: 132,476,584 (GRCm39)	R105Q	probably damaging	Het
Becn1	A	G	11: 101,181,324 (GRCm39)	Y326H	probably damaging	Het
Bicd1	T	C	6: 149,414,448 (GRCm39)	I387T	probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
Cacna1g	T	A	11: 94,300,302 (GRCm39)	H2156L	probably damaging	Het
Cd22	A	G	7: 30,566,533 (GRCm39)		probably benign	Het
Cd59b	G	A	2: 103,909,286 (GRCm39)		probably null	Het
Chn2	T	C	6: 54,267,436 (GRCm39)		probably benign	Het
Cmya5	A	G	13: 93,232,412 (GRCm39)	L892P	possibly damaging	Het
Col5a2	A	G	1: 45,446,195 (GRCm39)	I461T	probably benign	Het
Cts8	T	A	13: 61,401,391 (GRCm39)	M75L	probably benign	Het
Ddx50	A	T	10: 62,457,156 (GRCm39)		probably benign	Het
Dlg5	T	C	14: 24,197,274 (GRCm39)	M1558V	probably benign	Het
Dnlz	T	C	2: 26,241,380 (GRCm39)	N116S	probably damaging	Het
Efcab14	T	C	4: 115,597,728 (GRCm39)	F108L	probably damaging	Het
Ell2	T	C	13: 75,910,259 (GRCm39)		probably benign	Het
Fam234b	T	G	6: 135,194,072 (GRCm39)	S242A	possibly damaging	Het
Fhip2a	G	A	19: 57,369,839 (GRCm39)	D461N	probably benign	Het
Garnl3	T	C	2: 32,896,816 (GRCm39)	T608A	possibly damaging	Het
Gata3	T	C	2: 9,879,620 (GRCm39)	T119A	probably benign	Het
Hdac2	T	A	10: 36,865,180 (GRCm39)	D131E	probably benign	Het
Hira	T	A	16: 18,774,921 (GRCm39)	F949I	probably benign	Het
Il3	A	G	11: 54,156,506 (GRCm39)		probably null	Het
Itgb3	A	T	11: 104,527,914 (GRCm39)	K216N	probably damaging	Het
Jkampl	A	G	6: 73,446,402 (GRCm39)	L49P	possibly damaging	Het
Kctd21	T	A	7: 96,997,298 (GRCm39)	I257N	probably benign	Het
Kif16b	A	T	2: 142,514,295 (GRCm39)	S1215T	probably benign	Het
Lhx9	A	T	1: 138,766,417 (GRCm39)	C124S	probably damaging	Het
Lrch3	T	A	16: 32,782,124 (GRCm39)		probably benign	Het
Lrp1b	T	C	2: 40,486,995 (GRCm39)	E142G	probably damaging	Het
Macf1	T	C	4: 123,326,636 (GRCm39)	M2835V	possibly damaging	Het
Mug2	G	T	6: 122,051,673 (GRCm39)	V952L	possibly damaging	Het
Nepn	A	T	10: 52,276,533 (GRCm39)	T29S	probably damaging	Het
Nlgn1	C	T	3: 25,490,089 (GRCm39)	C546Y	probably damaging	Het
Notch4	C	T	17: 34,784,337 (GRCm39)	R43W	possibly damaging	Het
Nrxn1	A	T	17: 91,302,915 (GRCm39)		probably null	Het
Or14a260	A	G	7: 85,984,803 (GRCm39)	I267T	probably benign	Het
Or8k53	T	C	2: 86,178,072 (GRCm39)	I13V	possibly damaging	Het
Phf3	A	T	1: 30,844,146 (GRCm39)	D1604E	probably benign	Het
Plekhn1	T	C	4: 156,312,700 (GRCm39)	R53G	probably benign	Het
Pnp2	T	C	14: 51,200,634 (GRCm39)	F100S	probably damaging	Het
Rimoc1	T	C	15: 4,015,776 (GRCm39)	K263E	probably damaging	Het
Rxfp1	A	G	3: 79,564,783 (GRCm39)	S327P	probably damaging	Het
Siah2	A	G	3: 58,583,536 (GRCm39)	V250A	probably damaging	Het
Slc10a7	T	A	8: 79,423,787 (GRCm39)		probably null	Het
Slc9a1	A	G	4: 133,147,916 (GRCm39)	K645E	probably benign	Het
Smarca4	T	C	9: 21,548,620 (GRCm39)	L302P	probably damaging	Het
Tas2r120	T	A	6: 132,634,552 (GRCm39)	Y211*	probably null	Het
Tenm3	A	T	8: 49,127,507 (GRCm39)	L57Q	probably damaging	Het
Tep1	C	T	14: 51,067,150 (GRCm39)	V2269I	possibly damaging	Het
Tpd52l1	A	G	10: 31,255,252 (GRCm39)	S32P	probably damaging	Het
Tsfm	A	G	10: 126,858,798 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,540,468 (GRCm39)	R34173W	probably damaging	Het
Ttn	C	A	2: 76,623,474 (GRCm39)	V15368L	possibly damaging	Het
Upk1a	A	T	7: 30,311,819 (GRCm39)	I25N	possibly damaging	Het
Vmn1r45	A	T	6: 89,910,492 (GRCm39)	Y159*	probably null	Het
Vmn2r13	C	A	5: 109,322,915 (GRCm39)	V125L	probably benign	Het
Vps13b	T	C	15: 35,887,407 (GRCm39)	I3272T	probably benign	Het
Zfp108	A	G	7: 23,959,892 (GRCm39)	H161R	probably benign	Het
Zfp982	A	T	4: 147,597,093 (GRCm39)	K150I	probably benign	Het
Zfyve1	A	G	12: 83,601,847 (GRCm39)		probably benign	Het
Zswim8	T	C	14: 20,766,558 (GRCm39)		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
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

Predicted Primers

PCR Primer
(F):5'- TGTCCACAGAGCATCCACCACTTT -3'
(R):5'- CACATAGTCAGAAATGGGTGGCTCAA -3'

Sequencing Primer
(F):5'- CACCACTTTCAAACAGTTCACTTATG -3'
(R):5'- TGGCTCAAAATAAGGCAATACAATG -3'

Posted On

2013-04-11