Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02894:Minar1'

363328

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Minar1

Ensembl Gene

ENSMUSG00000039313

Gene Name

membrane integral NOTCH2 associated receptor 1

Synonyms

DD1, AF529169

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02894

Quality Score

Status

Chromosome

Chromosomal Location

89469269-89505178 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 89485155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 81 (I81L)

Ref Sequence

ENSEMBL: ENSMUSP00000140942 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044491] [ENSMUST00000191465]

AlphaFold

Q8K3V7

Predicted Effect

probably benign
Transcript: ENSMUST00000044491
AA Change: I81L

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000046111
Gene: ENSMUSG00000039313
AA Change: I81L

Domain	Start	End	E-Value	Type
low complexity region	508	522	N/A	INTRINSIC
Pfam:UPF0258	760	915	8.7e-73	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000191465
AA Change: I81L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140942
Gene: ENSMUSG00000039313
AA Change: I81L

Domain	Start	End	E-Value	Type
low complexity region	508	522	N/A	INTRINSIC
Pfam:UPF0258	759	854	6.1e-38	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630023A22Rik	T	A	14: 33,776,817 (GRCm39)		probably benign	Het
Aurka	T	A	2: 172,208,868 (GRCm39)		probably null	Het
Cacna2d3	C	T	14: 28,786,276 (GRCm39)		probably null	Het
Cdh12	A	G	15: 21,586,380 (GRCm39)	Y733C	probably damaging	Het
Cdon	A	T	9: 35,366,722 (GRCm39)	E199D	probably benign	Het
Celsr2	A	T	3: 108,302,526 (GRCm39)	L558Q	probably damaging	Het
Clcnkb	C	A	4: 141,135,130 (GRCm39)	R536L	probably benign	Het
Cyp3a11	G	A	5: 145,805,836 (GRCm39)	Q151*	probably null	Het
Dnah7a	A	T	1: 53,616,487 (GRCm39)	V1158E	probably benign	Het
Dnah8	G	T	17: 30,940,084 (GRCm39)	E1677*	probably null	Het
Dock3	T	C	9: 106,807,298 (GRCm39)	N1343S	probably benign	Het
Dock6	T	A	9: 21,723,111 (GRCm39)	E1603D	probably damaging	Het
Fam91a1	C	T	15: 58,315,080 (GRCm39)	T589M	probably benign	Het
Fat2	T	A	11: 55,147,479 (GRCm39)	N3921I	probably damaging	Het
Gm10188	A	G	1: 132,157,037 (GRCm39)		probably benign	Het
Grid2ip	A	G	5: 143,376,863 (GRCm39)	E976G	probably benign	Het
Hapln3	G	T	7: 78,771,521 (GRCm39)	Q123K	probably benign	Het
Hnrnpul1	G	A	7: 25,450,329 (GRCm39)	P128S	possibly damaging	Het
Hsd3b1	T	A	3: 98,760,245 (GRCm39)	I249F	possibly damaging	Het
Kbtbd3	A	T	9: 4,331,444 (GRCm39)	H606L	probably benign	Het
Krt82	T	C	15: 101,451,155 (GRCm39)	Y418C	probably damaging	Het
Mcm3ap	C	A	10: 76,313,601 (GRCm39)	A565E	probably benign	Het
Naip2	A	G	13: 100,297,505 (GRCm39)	S844P	probably damaging	Het
Naip2	C	T	13: 100,320,297 (GRCm39)	V240I	probably benign	Het
Notch2	T	A	3: 98,009,748 (GRCm39)	C558*	probably null	Het
Npdc1	T	A	2: 25,298,007 (GRCm39)	H185Q	probably benign	Het
Or2a25	A	T	6: 42,888,451 (GRCm39)		probably benign	Het
Or4c31	T	G	2: 88,292,070 (GRCm39)	Y148D	probably damaging	Het
Or5d37	T	C	2: 87,924,107 (GRCm39)	I58V	possibly damaging	Het
Osbpl3	A	T	6: 50,323,312 (GRCm39)	I257N	possibly damaging	Het
Pkd1l2	T	A	8: 117,740,630 (GRCm39)	T2156S	probably damaging	Het
Ppp1r13b	A	G	12: 111,797,888 (GRCm39)		probably benign	Het
Ppp3ca	C	A	3: 136,503,573 (GRCm39)	H49N	probably damaging	Het
Prrc2c	A	T	1: 162,505,626 (GRCm39)	L1100I	probably damaging	Het
Ptpn21	A	C	12: 98,655,891 (GRCm39)		probably benign	Het
Ptpn7	A	T	1: 135,070,906 (GRCm39)	M332L	probably damaging	Het
Ptprq	T	A	10: 107,503,285 (GRCm39)	Q791L	probably benign	Het
Ptprz1	G	A	6: 23,035,148 (GRCm39)	R1966H	probably damaging	Het
Ralgapa1	T	A	12: 55,763,854 (GRCm39)	Q1404L	possibly damaging	Het
Reln	C	A	5: 22,090,546 (GRCm39)	M3437I	possibly damaging	Het
S100a7l2	A	T	3: 90,995,700 (GRCm39)	F67L	probably benign	Het
Slc13a1	T	C	6: 24,137,041 (GRCm39)		probably benign	Het
Slc4a11	T	C	2: 130,529,075 (GRCm39)		probably null	Het
Slc9a2	A	G	1: 40,802,762 (GRCm39)	E604G	probably benign	Het
Sod3	T	G	5: 52,525,348 (GRCm39)	S16A	possibly damaging	Het
Taok3	A	G	5: 117,401,678 (GRCm39)	I650V	probably benign	Het
Uggt2	T	C	14: 119,319,211 (GRCm39)	I270M	probably damaging	Het
Ugt3a1	T	A	15: 9,367,487 (GRCm39)	I410N	probably damaging	Het
Ush2a	G	A	1: 188,184,043 (GRCm39)	S1449N	probably damaging	Het
Usp29	A	T	7: 6,964,633 (GRCm39)	M159L	probably benign	Het
Vmn1r122	A	T	7: 20,867,649 (GRCm39)	F135L	probably benign	Het
Wdr11	T	C	7: 129,232,890 (GRCm39)		probably benign	Het
Zc3h14	T	A	12: 98,725,202 (GRCm39)		probably null	Het
Zfp955a	A	T	17: 33,461,426 (GRCm39)	C235*	probably null	Het

Other mutations in Minar1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Minar1	APN	9	89,483,853 (GRCm39)	missense	probably benign	0.02
IGL00163:Minar1	APN	9	89,473,150 (GRCm39)	unclassified	probably benign
IGL00336:Minar1	APN	9	89,485,196 (GRCm39)	missense	probably damaging	1.00
IGL01608:Minar1	APN	9	89,478,551 (GRCm39)	missense	probably benign	0.15
IGL01818:Minar1	APN	9	89,483,366 (GRCm39)	missense	probably damaging	0.99
IGL02012:Minar1	APN	9	89,483,491 (GRCm39)	missense	probably benign	0.01
IGL02259:Minar1	APN	9	89,484,412 (GRCm39)	missense	possibly damaging	0.93
IGL03008:Minar1	APN	9	89,478,731 (GRCm39)	missense	probably damaging	1.00
IGL02988:Minar1	UTSW	9	89,484,792 (GRCm39)	missense	probably benign	0.02
R0410:Minar1	UTSW	9	89,484,256 (GRCm39)	missense	probably damaging	0.97
R0825:Minar1	UTSW	9	89,485,332 (GRCm39)	nonsense	probably null
R0883:Minar1	UTSW	9	89,484,470 (GRCm39)	missense	probably benign	0.05
R0989:Minar1	UTSW	9	89,484,088 (GRCm39)	missense	probably damaging	0.99
R1376:Minar1	UTSW	9	89,473,299 (GRCm39)	missense	probably damaging	1.00
R1376:Minar1	UTSW	9	89,473,299 (GRCm39)	missense	probably damaging	1.00
R1632:Minar1	UTSW	9	89,484,413 (GRCm39)	missense	probably damaging	0.96
R1804:Minar1	UTSW	9	89,485,152 (GRCm39)	missense	possibly damaging	0.91
R1974:Minar1	UTSW	9	89,483,256 (GRCm39)	missense	probably damaging	1.00
R2151:Minar1	UTSW	9	89,484,221 (GRCm39)	missense	possibly damaging	0.53
R2882:Minar1	UTSW	9	89,484,855 (GRCm39)	missense	possibly damaging	0.86
R2909:Minar1	UTSW	9	89,473,331 (GRCm39)	missense	probably damaging	1.00
R3961:Minar1	UTSW	9	89,483,963 (GRCm39)	missense	probably damaging	1.00
R3962:Minar1	UTSW	9	89,483,963 (GRCm39)	missense	probably damaging	1.00
R3963:Minar1	UTSW	9	89,483,963 (GRCm39)	missense	probably damaging	1.00
R4676:Minar1	UTSW	9	89,483,606 (GRCm39)	missense	probably damaging	1.00
R4778:Minar1	UTSW	9	89,485,155 (GRCm39)	missense	probably damaging	1.00
R4931:Minar1	UTSW	9	89,483,705 (GRCm39)	missense	probably benign	0.05
R5300:Minar1	UTSW	9	89,485,252 (GRCm39)	missense	probably damaging	1.00
R5702:Minar1	UTSW	9	89,473,208 (GRCm39)	missense	probably benign	0.22
R5759:Minar1	UTSW	9	89,483,125 (GRCm39)	missense	probably benign	0.01
R6187:Minar1	UTSW	9	89,473,220 (GRCm39)	missense	probably damaging	1.00
R7320:Minar1	UTSW	9	89,483,679 (GRCm39)	missense	probably benign
R7542:Minar1	UTSW	9	89,483,964 (GRCm39)	missense	probably damaging	1.00
R7552:Minar1	UTSW	9	89,483,888 (GRCm39)	missense	probably benign	0.00
R8826:Minar1	UTSW	9	89,483,234 (GRCm39)	missense	probably damaging	1.00
R9181:Minar1	UTSW	9	89,485,394 (GRCm39)	start codon destroyed	probably null	1.00
R9220:Minar1	UTSW	9	89,484,398 (GRCm39)	missense	probably damaging	1.00
R9560:Minar1	UTSW	9	89,484,531 (GRCm39)	missense	probably benign	0.00
R9666:Minar1	UTSW	9	89,484,072 (GRCm39)	missense	probably benign	0.06
U24488:Minar1	UTSW	9	89,485,100 (GRCm39)	missense	probably damaging	1.00
Z1177:Minar1	UTSW	9	89,485,215 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18