Mutagenetix > Incidental Mutation

Incidental Mutation 'R8130:Mndal'

631944

Institutional Source

Beutler Lab

Gene Symbol

Mndal

Ensembl Gene

ENSMUSG00000090272

Gene Name

myeloid nuclear differentiation antigen like

Synonyms

Ifi212

MMRRC Submission

067559-MU

Accession Numbers

Essential gene?

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

Stock #

R8130 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

173684786-173708038 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 173699111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 185 (K185*)

Ref Sequence

ENSEMBL: ENSMUSP00000140610 (fasta)

Gene Model

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

AlphaFold

D0QMC3

Predicted Effect

probably null
Transcript: ENSMUST00000111210
AA Change: K185*

SMART Domains

Protein: ENSMUSP00000106841
Gene: ENSMUSG00000090272
AA Change: K185*

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 null
Transcript: ENSMUST00000186442
AA Change: K185*

SMART Domains

Protein: ENSMUSP00000140539
Gene: ENSMUSG00000090272
AA Change: K185*

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 null
Transcript: ENSMUST00000188804
AA Change: K185*

SMART Domains

Protein: ENSMUSP00000140610
Gene: ENSMUSG00000090272
AA Change: K185*

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 null
Transcript: ENSMUST00000190071
AA Change: K54*

SMART Domains

Protein: ENSMUSP00000141055
Gene: ENSMUSG00000090272
AA Change: K54*

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 null
Transcript: ENSMUST00000190651
AA Change: K129*

SMART Domains

Protein: ENSMUSP00000140191
Gene: ENSMUSG00000090272
AA Change: K129*

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: 99.8%
3x: 99.7%
10x: 99.1%
20x: 97.3%

Validation Efficiency

96% (52/54)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	C	5: 138,561,271 (GRCm39)	I130M	probably damaging	Het
4921539E11Rik	T	C	4: 103,092,895 (GRCm39)	D142G	probably damaging	Het
Abcb10	C	T	8: 124,691,757 (GRCm39)	A403T		Het
Arfgef2	T	A	2: 166,678,170 (GRCm39)	S218T	possibly damaging	Het
Armc8	C	T	9: 99,433,600 (GRCm39)	V40I	probably benign	Het
Caps2	A	T	10: 112,018,381 (GRCm39)	D177V	probably benign	Het
Cdh8	A	T	8: 99,757,676 (GRCm39)	F641I	probably damaging	Het
Cemip	T	C	7: 83,596,384 (GRCm39)	S1127G	probably benign	Het
Cmtm1	C	A	8: 105,036,088 (GRCm39)	Q180H	unknown	Het
Col15a1	C	T	4: 47,312,196 (GRCm39)	T1337I	probably damaging	Het
Col18a1	A	T	10: 76,910,284 (GRCm39)	M555K	probably benign	Het
Ctrb1	A	G	8: 112,415,823 (GRCm39)	F89L	possibly damaging	Het
Disp1	T	C	1: 182,917,199 (GRCm39)	T76A	probably benign	Het
Dpep1	T	C	8: 123,926,965 (GRCm39)	V263A	probably damaging	Het
Dysf	G	A	6: 84,114,358 (GRCm39)	E1216K	probably damaging	Het
F830016B08Rik	A	G	18: 60,433,052 (GRCm39)	Y45C	probably benign	Het
Fam186a	CGG	CG	15: 99,841,914 (GRCm39)		probably null	Het
Gcm1	T	A	9: 77,971,816 (GRCm39)	D252E	probably benign	Het
Gm11559	A	G	11: 99,755,416 (GRCm39)	T22A	unknown	Het
Gm4847	C	T	1: 166,465,917 (GRCm39)	R224Q	probably damaging	Het
Hypk	A	G	2: 121,286,859 (GRCm39)		probably benign	Het
I830077J02Rik	C	T	3: 105,834,233 (GRCm39)	C64Y	possibly damaging	Het
Igkv4-86	T	C	6: 68,887,650 (GRCm39)	I30V	probably benign	Het
Il17ra	A	G	6: 120,455,416 (GRCm39)	I342V	probably benign	Het
Kcnip3	C	T	2: 127,352,828 (GRCm39)	A64T	possibly damaging	Het
Kdm5d	T	A	Y: 940,658 (GRCm39)	D1056E	possibly damaging	Het
Kif19b	C	T	5: 140,460,716 (GRCm39)	R461C	probably damaging	Het
Krtap19-2	C	T	16: 88,670,903 (GRCm39)	G81R	unknown	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Lpin1	A	T	12: 16,629,965 (GRCm39)	I69N		Het
Matcap1	G	A	8: 106,012,145 (GRCm39)	R101W	probably benign	Het
Mki67	C	T	7: 135,299,293 (GRCm39)	D1914N	probably damaging	Het
Mmrn1	A	T	6: 60,937,707 (GRCm39)	Q235L	probably damaging	Het
Muc6	T	C	7: 141,233,354 (GRCm39)	T802A	probably damaging	Het
Necab1	A	T	4: 15,005,073 (GRCm39)	F130L	probably damaging	Het
Nemf	A	T	12: 69,402,826 (GRCm39)	M70K	possibly damaging	Het
Nploc4	A	G	11: 120,280,240 (GRCm39)	I436T	possibly damaging	Het
Obscn	C	A	11: 59,015,439 (GRCm39)	R1011M	probably damaging	Het
Or4k44	A	T	2: 111,367,825 (GRCm39)	F270I	probably damaging	Het
Or5aq1b	T	C	2: 86,901,570 (GRCm39)	K303E	probably benign	Het
Or8k24	T	A	2: 86,215,911 (GRCm39)	M284L	probably benign	Het
Ormdl1	T	A	1: 53,338,139 (GRCm39)	M1K	probably null	Het
Pramel34	A	T	5: 93,784,597 (GRCm39)	L289Q	probably damaging	Het
Psmb3	A	G	11: 97,594,723 (GRCm39)	D38G	probably benign	Het
Psme4	T	A	11: 30,792,026 (GRCm39)	L1171Q	probably damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Slc22a18	G	A	7: 143,052,911 (GRCm39)	V379I	probably damaging	Het
Speg	T	A	1: 75,392,240 (GRCm39)	F1632L	probably damaging	Het
Taok1	G	A	11: 77,470,659 (GRCm39)	R49C	possibly damaging	Het
Ttll6	T	C	11: 96,047,425 (GRCm39)	S675P	probably benign	Het
Usp8	A	T	2: 126,559,918 (GRCm39)		probably benign	Het
Vmn2r81	T	A	10: 79,110,538 (GRCm39)	N550K	possibly damaging	Het
Zfp119a	A	T	17: 56,172,971 (GRCm39)	C291S	probably damaging	Het
Zfp329	C	A	7: 12,544,313 (GRCm39)	G404C	probably damaging	Het
Zfp934	C	A	13: 62,667,985 (GRCm39)		probably null	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
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'- GAGCCCAGTGATGTGCTTTG -3'
(R):5'- TTCCTGTTTCATAAACGGTTGG -3'

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

Posted On

2020-06-30