Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01313:Mill1'

73744

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mill1

Ensembl Gene

ENSMUSG00000054005

Gene Name

MHC I like leukocyte 1

Synonyms

5530400I18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

IGL01313

Quality Score

Status

Chromosome

Chromosomal Location

17979272-18000017 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17998558 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 256 (I256T)

Ref Sequence

ENSEMBL: ENSMUSP00000069083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066780]

AlphaFold

Q8HWE7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066780
AA Change: I256T

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000069083
Gene: ENSMUSG00000054005
AA Change: I256T

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:MHC_I	60	236	3.8e-33	PFAM
IGc1	255	327	3.53e-4	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,621,969 (GRCm39)		probably null	Het
Abca7	T	A	10: 79,838,957 (GRCm39)		probably benign	Het
Acvr1c	T	G	2: 58,205,986 (GRCm39)	Q41H	probably benign	Het
Apob	A	T	12: 8,050,898 (GRCm39)	N1041Y	probably damaging	Het
Asb5	A	T	8: 55,038,798 (GRCm39)		probably benign	Het
Asxl3	A	T	18: 22,650,516 (GRCm39)	E835V	probably benign	Het
Ccdc73	A	T	2: 104,737,972 (GRCm39)	M23L	probably benign	Het
Cep170b	G	A	12: 112,702,086 (GRCm39)	R293H	probably damaging	Het
Chd8	C	A	14: 52,448,032 (GRCm39)	L316F	probably damaging	Het
Cldn13	T	C	5: 134,944,114 (GRCm39)	S24G	possibly damaging	Het
Cnot10	A	T	9: 114,460,923 (GRCm39)	N82K	probably benign	Het
Colec10	G	A	15: 54,323,157 (GRCm39)	V127M	probably damaging	Het
Cyp2d40	T	C	15: 82,645,478 (GRCm39)	S130G	unknown	Het
Ddx60	T	A	8: 62,435,560 (GRCm39)	H904Q	probably damaging	Het
Dnaaf11	A	T	15: 66,252,362 (GRCm39)	S435T	probably benign	Het
Dnajc2	T	C	5: 21,979,974 (GRCm39)	N177S	possibly damaging	Het
F5	G	T	1: 164,021,181 (GRCm39)	V1219L	probably benign	Het
Fam47c	G	T	X: 77,781,454 (GRCm39)	R12L	probably damaging	Het
Fat4	T	C	3: 39,061,350 (GRCm39)	I4311T	possibly damaging	Het
Fbf1	A	G	11: 116,041,907 (GRCm39)	V545A	probably benign	Het
Fhod3	G	A	18: 25,153,777 (GRCm39)	E420K	probably damaging	Het
Ikzf2	T	C	1: 69,578,589 (GRCm39)	K162E	probably damaging	Het
Insl6	C	A	19: 29,298,953 (GRCm39)	S153I	possibly damaging	Het
Kcnh8	A	G	17: 53,141,708 (GRCm39)	Y317C	probably damaging	Het
Lzts1	C	A	8: 69,591,759 (GRCm39)	V130L	probably benign	Het
Mycbpap	A	C	11: 94,400,145 (GRCm39)		probably null	Het
Or6c65	A	G	10: 129,603,464 (GRCm39)	Y33C	probably damaging	Het
Pdia6	T	A	12: 17,320,542 (GRCm39)		probably benign	Het
Pik3c2b	C	T	1: 132,999,369 (GRCm39)	Q406*	probably null	Het
Pkhd1	C	A	1: 20,271,248 (GRCm39)	G3102C	probably damaging	Het
Polr3b	T	A	10: 84,561,607 (GRCm39)	I1122N	probably damaging	Het
Ryr2	T	A	13: 11,653,371 (GRCm39)		probably null	Het
Samhd1	A	G	2: 156,958,321 (GRCm39)	I300T	probably damaging	Het
Skint5	T	A	4: 113,662,361 (GRCm39)	I609F	unknown	Het
Slc27a3	G	T	3: 90,293,861 (GRCm39)	T541K	probably damaging	Het
Stxbp4	A	G	11: 90,512,475 (GRCm39)		probably benign	Het
Sv2c	C	T	13: 96,224,797 (GRCm39)	V171M	probably damaging	Het
Tenm2	A	G	11: 35,915,075 (GRCm39)	V2154A	probably damaging	Het
Thoc1	A	T	18: 9,987,158 (GRCm39)	I433F	probably benign	Het
Thoc2	A	T	X: 40,916,223 (GRCm39)	V865D	probably benign	Het
Trdn	C	A	10: 33,076,216 (GRCm39)	P282Q	probably damaging	Het
Twsg1	C	A	17: 66,255,699 (GRCm39)	C25F	probably damaging	Het
Usp34	T	A	11: 23,423,206 (GRCm39)	I3155N	probably damaging	Het
Vmn2r106	T	A	17: 20,498,651 (GRCm39)	Q420L	probably damaging	Het
Vmn2r109	C	T	17: 20,770,419 (GRCm39)	R523K	probably damaging	Het

Other mutations in Mill1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Mill1	APN	7	17,998,566 (GRCm39)	missense	possibly damaging	0.91
IGL01417:Mill1	APN	7	17,998,708 (GRCm39)	missense	probably benign	0.18
IGL01997:Mill1	APN	7	17,989,814 (GRCm39)	missense	probably damaging	1.00
IGL02282:Mill1	APN	7	17,997,129 (GRCm39)	critical splice donor site	probably null
IGL03126:Mill1	APN	7	17,989,832 (GRCm39)	missense	probably benign	0.33
IGL03197:Mill1	APN	7	17,998,590 (GRCm39)	missense	probably benign	0.02
R0513:Mill1	UTSW	7	17,998,802 (GRCm39)	nonsense	probably null
R0515:Mill1	UTSW	7	17,998,798 (GRCm39)	missense	probably benign	0.12
R1460:Mill1	UTSW	7	17,996,595 (GRCm39)	missense	probably damaging	1.00
R1589:Mill1	UTSW	7	17,979,572 (GRCm39)	missense	probably benign	0.01
R2192:Mill1	UTSW	7	17,998,544 (GRCm39)	nonsense	probably null
R3704:Mill1	UTSW	7	17,996,978 (GRCm39)	missense	possibly damaging	0.91
R3758:Mill1	UTSW	7	17,996,628 (GRCm39)	critical splice donor site	probably null
R4685:Mill1	UTSW	7	17,989,853 (GRCm39)	missense	probably damaging	0.98
R4753:Mill1	UTSW	7	17,996,472 (GRCm39)	missense	probably benign	0.28
R5763:Mill1	UTSW	7	17,979,587 (GRCm39)	missense	probably benign	0.03
R5938:Mill1	UTSW	7	17,996,613 (GRCm39)	missense	probably benign	0.00
R7757:Mill1	UTSW	7	17,996,391 (GRCm39)	missense	probably benign	0.02
R8094:Mill1	UTSW	7	17,989,835 (GRCm39)	missense	probably benign	0.01
R8972:Mill1	UTSW	7	17,996,982 (GRCm39)	missense	probably benign	0.00
R9620:Mill1	UTSW	7	17,997,027 (GRCm39)	missense	probably benign	0.01
R9694:Mill1	UTSW	7	17,997,027 (GRCm39)	missense	probably benign	0.01
Z1176:Mill1	UTSW	7	17,979,424 (GRCm39)	start gained	probably benign

Posted On

2013-10-07