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

Gm2785

Accession Numbers

Is this an essential gene?

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

Stock #

R9134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

173849126-173942491 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 173871530 bp (GRCm38)

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
2410089E03Rik	T	C	15: 8,199,232	V929A	probably damaging	Het
Ap1m1	A	G	8: 72,240,069		probably benign	Het
Arhgdia	A	T	11: 120,579,566	I122N	probably damaging	Het
Atad2b	T	A	12: 5,010,351	H915Q	probably benign	Het
Atad5	G	A	11: 80,133,105	R1681K	probably benign	Het
Bpifb9b	T	C	2: 154,309,521	V54A	probably benign	Het
Cby3	A	C	11: 50,359,326	T25P	probably damaging	Het
Ccdc138	T	G	10: 58,538,280	L374R	probably damaging	Het
Cd84	T	A	1: 171,851,846	N30K	probably damaging	Het
Cdk20	T	A	13: 64,433,092		probably null	Het
Chd9	A	G	8: 90,933,126	H238R	unknown	Het
Csl	T	A	10: 99,758,375	H276L	probably damaging	Het
Dchs1	A	G	7: 105,755,703	L2544P	probably damaging	Het
Dnah17	T	C	11: 118,088,146	T1807A	probably damaging	Het
Dph7	C	T	2: 24,971,708	H378Y	probably benign	Het
Enkur	T	C	2: 21,180,968	I249V	probably benign	Het
Fam117a	C	A	11: 95,380,919	S439*	probably null	Het
Fam184a	T	G	10: 53,697,248	K345N	probably damaging	Het
Fam228a	T	C	12: 4,715,686	R255G	probably benign	Het
Fpr-rs7	A	T	17: 20,114,063	M55K	probably damaging	Het
Frem2	A	G	3: 53,654,900	Y729H	probably damaging	Het
Gm15448	T	C	7: 3,822,183	S487G		Het
Herc2	A	G	7: 56,182,429	T2989A	probably damaging	Het
Hspb8	A	G	5: 116,409,488	L145P	probably damaging	Het
Iars	T	A	13: 49,701,847	V250E	probably benign	Het
Ide	G	T	19: 37,296,162		probably benign	Het
Ino80c	T	C	18: 24,121,708	S32G	probably benign	Het
Insr	G	A	8: 3,258,413	R208W	probably damaging	Het
Ints1	G	A	5: 139,757,596	R1674W	probably benign	Het
Itsn1	G	A	16: 91,869,626	V1153M	unknown	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Lrrc41	C	A	4: 116,088,585	Q166K	possibly damaging	Het
Lrriq3	T	C	3: 155,114,546		probably null	Het
Nisch	TCTGCTGC	TCTGCTGCTGC	14: 31,174,680		probably benign	Het
Nme4	G	T	17: 26,095,415	A13E	probably benign	Het
Olfr1468-ps1	G	T	19: 13,375,249	A96S	probably damaging	Het
Olfr292	C	A	7: 86,695,380	S308*	probably null	Het
Olfr410	A	G	11: 74,334,844	I129T	probably damaging	Het
Pcmt1	A	T	10: 7,644,443		probably benign	Het
Pde4c	G	T	8: 70,748,511	V493F	probably damaging	Het
Pde8a	C	T	7: 81,332,871	T746I	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Prr23a1	T	C	9: 98,842,882	L99P		Het
Rex2	C	G	4: 147,058,186	T377S	probably benign	Het
Robo2	A	G	16: 73,906,850	F50L		Het
Srgap1	A	G	10: 122,047,222		probably benign	Het
Syt3	A	G	7: 44,393,367	N358D	possibly damaging	Het
Tfec	T	A	6: 16,835,327	T151S	probably damaging	Het
Tll1	A	T	8: 64,016,167	I974N	possibly damaging	Het
Tmc2	T	C	2: 130,232,401	V338A	probably benign	Het
Trappc6b	T	A	12: 59,050,374	D54V	probably damaging	Het
Trav6-2	T	A	14: 52,667,652	C43*	probably null	Het
Ubr4	T	A	4: 139,400,444		probably null	Het
Vmn1r2	T	A	4: 3,172,884	W268R	probably damaging	Het
Vmn2r120	A	G	17: 57,525,093	L232S	probably damaging	Het
Vps26b	T	C	9: 27,009,929	T325A	probably benign	Het
Vwa3a	T	C	7: 120,778,436	V438A	probably damaging	Het
Wdcp	C	A	12: 4,851,533	S463*	probably null	Het
Xkr4	C	T	1: 3,670,637	G238S	probably benign	Het
Zranb1	A	G	7: 132,950,157	N179S	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
R0076:Mndal	UTSW	1	173874447	nonsense	probably null
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
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

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