Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00514:Mill1'

6311

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: 0.075) question?

Stock #

IGL00514

Quality Score

Status

Chromosome

Chromosomal Location

17979272-18000017 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 17998566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 259 (T259S)

Ref Sequence

ENSEMBL: ENSMUSP00000069083 (fasta)

Gene Model

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

AlphaFold

Q8HWE7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066780
AA Change: T259S

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000069083
Gene: ENSMUSG00000054005
AA Change: T259S

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,432,141 (GRCm39)	E75G	unknown	Het
Ank3	T	C	10: 69,818,035 (GRCm39)		probably benign	Het
Aplf	A	G	6: 87,645,390 (GRCm39)		probably benign	Het
Baz2b	A	T	2: 59,792,821 (GRCm39)	F436I	probably benign	Het
Blmh	A	G	11: 76,857,839 (GRCm39)	D327G	probably damaging	Het
Bmt2	A	T	6: 13,628,752 (GRCm39)	H310Q	probably damaging	Het
Cfap46	C	T	7: 139,240,605 (GRCm39)	S56N	probably damaging	Het
Col19a1	T	C	1: 24,576,013 (GRCm39)	K110E	unknown	Het
Cyp2c68	T	C	19: 39,700,939 (GRCm39)	D293G	probably damaging	Het
Ears2	T	A	7: 121,638,985 (GRCm39)	K480*	probably null	Het
Efhc1	C	T	1: 21,049,705 (GRCm39)	Q522*	probably null	Het
Ehd4	G	A	2: 119,921,694 (GRCm39)	P521S	probably damaging	Het
Endov	G	T	11: 119,382,291 (GRCm39)		probably benign	Het
Fgfr2	T	G	7: 129,769,441 (GRCm39)	T648P	probably benign	Het
Hsf5	A	G	11: 87,513,922 (GRCm39)	Y329C	probably damaging	Het
Kntc1	T	A	5: 123,929,590 (GRCm39)	S1308T	probably benign	Het
Ms4a4c	C	T	19: 11,396,400 (GRCm39)	A111V	probably damaging	Het
Myh1	G	T	11: 67,110,610 (GRCm39)	R1507M	probably damaging	Het
Nbeal1	G	A	1: 60,256,384 (GRCm39)	D210N	probably benign	Het
Neo1	G	T	9: 58,829,202 (GRCm39)		probably benign	Het
Nipsnap2	A	G	5: 129,831,915 (GRCm39)	D236G	probably damaging	Het
Plekhh2	G	T	17: 84,903,734 (GRCm39)		probably null	Het
Prox2	A	T	12: 85,141,552 (GRCm39)	M217K	probably benign	Het
Rgl2	G	A	17: 34,152,110 (GRCm39)	G299E	probably benign	Het
Rragb	T	G	X: 151,954,294 (GRCm39)	C370W	possibly damaging	Het
Scn9a	A	T	2: 66,393,945 (GRCm39)	N209K	probably damaging	Het
Sec61g	A	T	11: 16,451,817 (GRCm39)		probably benign	Het
Slc38a7	A	G	8: 96,567,105 (GRCm39)		probably benign	Het
Smcr8	A	T	11: 60,669,193 (GRCm39)	K114*	probably null	Het
Stag3	T	C	5: 138,298,397 (GRCm39)	L730P	probably damaging	Het
Syn3	A	G	10: 86,190,280 (GRCm39)	L183P	probably damaging	Het
Tbk1	A	T	10: 121,388,155 (GRCm39)	C637S	probably benign	Het
Tmem30c	A	T	16: 57,090,437 (GRCm39)	Y257N	probably damaging	Het
Trpm3	C	T	19: 22,965,023 (GRCm39)	T1506M	probably benign	Het
Yes1	A	C	5: 32,812,473 (GRCm39)	K248Q	probably benign	Het
Zfp638	A	T	6: 83,933,680 (GRCm39)	K811N	probably damaging	Het

Other mutations in Mill1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01313:Mill1	APN	7	17,998,558 (GRCm39)	missense	possibly damaging	0.82
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

2012-04-20