Mutagenetix > Incidental Mutation

Incidental Mutation 'R1497:Mndal'

168931

Institutional Source

Beutler Lab

Gene Symbol

Mndal

Ensembl Gene

ENSMUSG00000090272

Gene Name

myeloid nuclear differentiation antigen like

Synonyms

Gm2785

MMRRC Submission

039548-MU

Accession Numbers

Essential gene?

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

Stock #

R1497 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

173849126-173942491 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 173872875 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 177 (S177T)

Ref Sequence

ENSEMBL: ENSMUSP00000140539 (fasta)

Gene Model

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

AlphaFold

D0QMC3

Predicted Effect

unknown
Transcript: ENSMUST00000111210
AA Change: S177T

SMART Domains

Protein: ENSMUSP00000106841
Gene: ENSMUSG00000090272
AA Change: S177T

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: S177T

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000140539
Gene: ENSMUSG00000090272
AA Change: S177T

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

noncoding transcript
Transcript: ENSMUST00000187636

Predicted Effect

unknown
Transcript: ENSMUST00000188804
AA Change: S177T

SMART Domains

Protein: ENSMUSP00000140610
Gene: ENSMUSG00000090272
AA Change: S177T

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: ENSMUST00000189501

Predicted Effect

unknown
Transcript: ENSMUST00000190071
AA Change: S46T

SMART Domains

Protein: ENSMUSP00000141055
Gene: ENSMUSG00000090272
AA Change: S46T

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

SMART Domains

Protein: ENSMUSP00000140191
Gene: ENSMUSG00000090272

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191500

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.8%
20x: 94.4%

Validation Efficiency

99% (79/80)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	T	11: 109,973,821		probably benign	Het
Abhd17a	A	G	10: 80,584,330		probably benign	Het
Acacb	G	A	5: 114,196,807	E646K	probably damaging	Het
Afap1l2	T	C	19: 56,928,311	M262V	probably benign	Het
Anapc7	T	A	5: 122,435,515		probably benign	Het
Car5b	T	A	X: 163,988,404	K188N	probably benign	Het
Caskin1	C	T	17: 24,504,541	R768*	probably null	Het
Casp8ap2	T	C	4: 32,639,938	S331P	probably benign	Het
Ccdc68	C	T	18: 69,960,514		probably benign	Het
Cd44	A	T	2: 102,842,955		probably null	Het
Celsr3	A	G	9: 108,848,865	S3090G	probably benign	Het
Clasp1	A	T	1: 118,552,058	M1023L	probably benign	Het
Clec16a	T	C	16: 10,635,259	F608S	probably damaging	Het
Col7a1	A	C	9: 108,978,825	E2531A	unknown	Het
Ctc1	T	A	11: 69,022,561	C128S	probably benign	Het
Cyp2d41-ps	T	C	15: 82,782,022		noncoding transcript	Het
Cyp2j6	T	A	4: 96,531,661	I278F	probably damaging	Het
Dhtkd1	A	T	2: 5,904,113	S723R	probably damaging	Het
Dhx8	A	G	11: 101,735,387		probably benign	Het
Dnah17	A	T	11: 118,114,233	L775Q	probably damaging	Het
Dnah8	C	A	17: 30,752,075	T2701K	probably damaging	Het
Eml3	T	A	19: 8,936,369	S424R	probably damaging	Het
Epm2aip1	A	G	9: 111,272,247	E96G	possibly damaging	Het
Ezr	T	C	17: 6,742,708	H314R	probably benign	Het
Fam193b	G	T	13: 55,554,434	H43Q	probably damaging	Het
Fam208b	T	C	13: 3,570,409	E2164G	probably damaging	Het
Fam217a	T	A	13: 34,911,212	N340I	probably damaging	Het
Fcrl1	A	T	3: 87,384,802	Q89H	probably damaging	Het
Flg2	A	T	3: 93,219,769	H1996L	unknown	Het
Gabpb1	C	T	2: 126,639,249	V327M	possibly damaging	Het
Gtf3c3	A	G	1: 54,437,939	V36A	probably benign	Het
Hspg2	A	G	4: 137,548,096	N2739S	probably damaging	Het
Hyal1	A	G	9: 107,577,995		probably null	Het
Ipo13	T	C	4: 117,904,659	D448G	probably benign	Het
Kcnq5	T	C	1: 21,402,386	D860G	possibly damaging	Het
Kif13b	A	G	14: 64,736,266	N355S	probably damaging	Het
Kmt2c	T	A	5: 25,314,515	H2199L	possibly damaging	Het
Magi1	A	G	6: 93,747,329	F235S	probably damaging	Het
Maml1	A	C	11: 50,265,707	M547R	possibly damaging	Het
Mapk7	T	C	11: 61,493,863	K6E	possibly damaging	Het
Mbd5	T	A	2: 49,257,381	N534K	possibly damaging	Het
Mcat	G	A	15: 83,549,252	Q34*	probably null	Het
Mcu	T	A	10: 59,448,848	D180V	probably damaging	Het
Mettl21c	G	T	1: 44,009,791	P199T	probably benign	Het
Mpeg1	G	T	19: 12,461,247	C23F	probably benign	Het
Mup15	T	A	4: 61,438,234	Y98F	probably benign	Het
Myh8	T	C	11: 67,289,812	S625P	probably benign	Het
Nipsnap2	T	C	5: 129,753,218		probably benign	Het
Nlrp4e	T	C	7: 23,320,372	S95P	probably benign	Het
Olfr1196	T	C	2: 88,700,762	D189G	probably damaging	Het
Olfr378	T	A	11: 73,425,827	D52V	possibly damaging	Het
Otop2	A	G	11: 115,329,849		probably null	Het
Pcnx4	G	C	12: 72,574,400	G998A	probably benign	Het
Pnkd	C	A	1: 74,351,522		probably null	Het
Ppp4r4	T	A	12: 103,606,945	V701E	probably benign	Het
Ryr2	A	G	13: 11,601,841	I3897T	probably damaging	Het
Scn1a	T	C	2: 66,332,287	E205G	probably damaging	Het
Sdk2	G	A	11: 113,893,575		probably benign	Het
Serpinb5	A	T	1: 106,876,052	Q156L	probably benign	Het
Setdb1	A	T	3: 95,327,467	V975D	probably benign	Het
Shc1	A	G	3: 89,428,445	*470W	probably null	Het
Sik3	T	A	9: 46,202,022	V587E	probably damaging	Het
Sik3	C	A	9: 46,221,089	H1276Q	probably benign	Het
Spata7	T	C	12: 98,668,861	I384T	probably damaging	Het
Tanc2	T	A	11: 105,922,137	V1469D	probably benign	Het
Tdrd5	A	T	1: 156,255,802	N888K	probably benign	Het
Tex22	T	C	12: 113,075,380	S34P	probably benign	Het
Tmed6	T	C	8: 107,064,122	T98A	probably benign	Het
Trim66	G	A	7: 109,484,619	P141L	probably benign	Het
Trpa1	T	C	1: 14,885,812	I778V	probably benign	Het
Urb2	T	A	8: 124,028,077	H174Q	probably damaging	Het
Usb1	T	C	8: 95,338,697	V59A	probably benign	Het
Vmn1r11	T	A	6: 57,137,409	N19K	probably damaging	Het
Vmn1r185	A	T	7: 26,611,794	F95L	probably benign	Het
Vmn1r206	C	T	13: 22,620,990	V16M	probably benign	Het
Vmn2r92	T	C	17: 18,167,363	V210A	probably benign	Het
Wdr17	A	T	8: 54,672,501	I448K	possibly damaging	Het
Zfp768	T	A	7: 127,343,561	Q465L	probably damaging	Het
Zfp804b	T	A	5: 6,771,105	N617Y	probably damaging	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
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
R9134:Mndal	UTSW	1	173871530	missense	unknown
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'- CCAACCGAGGCTGTGTTACATGATAAG -3'
(R):5'- AGACATTCCCAAGGGCTGAAGATAAAAC -3'

Sequencing Primer
(F):5'- GGAGCCAAGTCATGGTCTTT -3'
(R):5'- ACCCAGGATCAGGATCATCTTC -3'

Posted On

2014-04-13