Mutagenetix > Incidental Mutation

Incidental Mutation 'R9134:Mndal'

693817

Institutional Source

Beutler Lab

Gene Symbol

Mndal

Ensembl Gene

ENSMUSG00000090272

Gene Name

myeloid nuclear differentiation antigen like

Synonyms

Ifi212

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

173684786-173708038 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 173699096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 190 (I190V)

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: I190V

SMART Domains

Protein: ENSMUSP00000106841
Gene: ENSMUSG00000090272
AA Change: I190V

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: I190V

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

SMART Domains

Protein: ENSMUSP00000140539
Gene: ENSMUSG00000090272
AA Change: I190V

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: I190V

SMART Domains

Protein: ENSMUSP00000140610
Gene: ENSMUSG00000090272
AA Change: I190V

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

unknown
Transcript: ENSMUST00000190071
AA Change: I59V

SMART Domains

Protein: ENSMUSP00000141055
Gene: ENSMUSG00000090272
AA Change: I59V

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: I134V

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000140191
Gene: ENSMUSG00000090272
AA Change: I134V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

95% (54/57)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap1m1	A	G	8: 72,993,913 (GRCm39)		probably benign	Het
Arhgdia	A	T	11: 120,470,392 (GRCm39)	I122N	probably damaging	Het
Atad2b	T	A	12: 5,060,351 (GRCm39)	H915Q	probably benign	Het
Atad5	G	A	11: 80,023,931 (GRCm39)	R1681K	probably benign	Het
Bpifb9b	T	C	2: 154,151,441 (GRCm39)	V54A	probably benign	Het
Cby3	A	C	11: 50,250,153 (GRCm39)	T25P	probably damaging	Het
Ccdc138	T	G	10: 58,374,102 (GRCm39)	L374R	probably damaging	Het
Cd84	T	A	1: 171,679,413 (GRCm39)	N30K	probably damaging	Het
Cdk20	T	A	13: 64,580,906 (GRCm39)		probably null	Het
Chd9	A	G	8: 91,659,754 (GRCm39)	H238R	unknown	Het
Cplane1	T	C	15: 8,228,716 (GRCm39)	V929A	probably damaging	Het
Csl	T	A	10: 99,594,237 (GRCm39)	H276L	probably damaging	Het
Dchs1	A	G	7: 105,404,910 (GRCm39)	L2544P	probably damaging	Het
Dnah17	T	C	11: 117,978,972 (GRCm39)	T1807A	probably damaging	Het
Dph7	C	T	2: 24,861,720 (GRCm39)	H378Y	probably benign	Het
Enkur	T	C	2: 21,185,779 (GRCm39)	I249V	probably benign	Het
Fam117a	C	A	11: 95,271,745 (GRCm39)	S439*	probably null	Het
Fam184a	T	G	10: 53,573,344 (GRCm39)	K345N	probably damaging	Het
Fam228a	T	C	12: 4,765,686 (GRCm39)	R255G	probably benign	Het
Fpr-rs7	A	T	17: 20,334,325 (GRCm39)	M55K	probably damaging	Het
Frem2	A	G	3: 53,562,321 (GRCm39)	Y729H	probably damaging	Het
Herc2	A	G	7: 55,832,177 (GRCm39)	T2989A	probably damaging	Het
Hspb8	A	G	5: 116,547,547 (GRCm39)	L145P	probably damaging	Het
Iars1	T	A	13: 49,855,323 (GRCm39)	V250E	probably benign	Het
Ide	G	T	19: 37,273,561 (GRCm39)		probably benign	Het
Ino80c	T	C	18: 24,254,765 (GRCm39)	S32G	probably benign	Het
Insr	G	A	8: 3,308,413 (GRCm39)	R208W	probably damaging	Het
Ints1	G	A	5: 139,743,351 (GRCm39)	R1674W	probably benign	Het
Itsn1	G	A	16: 91,666,514 (GRCm39)	V1153M	unknown	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lrrc41	C	A	4: 115,945,782 (GRCm39)	Q166K	possibly damaging	Het
Lrriq3	T	C	3: 154,820,183 (GRCm39)		probably null	Het
Nisch	TCTGCTGC	TCTGCTGCTGC	14: 30,896,637 (GRCm39)		probably benign	Het
Nme4	G	T	17: 26,314,389 (GRCm39)	A13E	probably benign	Het
Or14c39	C	A	7: 86,344,588 (GRCm39)	S308*	probably null	Het
Or3a1	A	G	11: 74,225,670 (GRCm39)	I129T	probably damaging	Het
Or5b114-ps1	G	T	19: 13,352,613 (GRCm39)	A96S	probably damaging	Het
Pcmt1	A	T	10: 7,520,207 (GRCm39)		probably benign	Het
Pde4c	G	T	8: 71,201,160 (GRCm39)	V493F	probably damaging	Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Pira13	T	C	7: 3,825,182 (GRCm39)	S487G		Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Prr23a1	T	C	9: 98,724,935 (GRCm39)	L99P		Het
Rex2	C	G	4: 147,142,643 (GRCm39)	T377S	probably benign	Het
Robo2	A	G	16: 73,703,738 (GRCm39)	F50L		Het
Srgap1	A	G	10: 121,883,127 (GRCm39)		probably benign	Het
Syt3	A	G	7: 44,042,791 (GRCm39)	N358D	possibly damaging	Het
Tfec	T	A	6: 16,835,326 (GRCm39)	T151S	probably damaging	Het
Tll1	A	T	8: 64,469,201 (GRCm39)	I974N	possibly damaging	Het
Tmc2	T	C	2: 130,074,321 (GRCm39)	V338A	probably benign	Het
Trappc6b	T	A	12: 59,097,160 (GRCm39)	D54V	probably damaging	Het
Trav6-2	T	A	14: 52,905,109 (GRCm39)	C43*	probably null	Het
Ubr4	T	A	4: 139,127,755 (GRCm39)		probably null	Het
Vmn1r2	T	A	4: 3,172,884 (GRCm39)	W268R	probably damaging	Het
Vmn2r120	A	G	17: 57,832,093 (GRCm39)	L232S	probably damaging	Het
Vps26b	T	C	9: 26,921,225 (GRCm39)	T325A	probably benign	Het
Vwa3a	T	C	7: 120,377,659 (GRCm39)	V438A	probably damaging	Het
Wdcp	C	A	12: 4,901,533 (GRCm39)	S463*	probably null	Het
Xkr4	C	T	1: 3,740,860 (GRCm39)	G238S	probably benign	Het
Zranb1	A	G	7: 132,551,886 (GRCm39)	N179S	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
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
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'- TGCTTTGGGAAGAGGCAATC -3'
(R):5'- TTCCTGTTTCATAAACGGTTGG -3'

Sequencing Primer
(F):5'- CATTGAAATAGGAAAGTGGTACCTTG -3'
(R):5'- CCTGTTTCATAAACGGTTGGCAAAC -3'

Posted On

2022-01-20