Mutagenetix > Incidental Mutation

Incidental Mutation 'R4753:Mill1'

357731

Institutional Source

Beutler Lab

Gene Symbol

Mill1

Ensembl Gene

ENSMUSG00000054005

Gene Name

MHC I like leukocyte 1

Synonyms

5530400I18Rik

MMRRC Submission

041971-MU

Accession Numbers

Essential gene?

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

Stock #

R4753 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17979272-18000017 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 17996472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 96 (K96T)

Ref Sequence

ENSEMBL: ENSMUSP00000069083 (fasta)

Gene Model

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

AlphaFold

Q8HWE7

Predicted Effect

probably benign
Transcript: ENSMUST00000066780
AA Change: K96T

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000069083
Gene: ENSMUSG00000054005
AA Change: K96T

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.6%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd55	T	A	13: 112,500,009 (GRCm39)	D257E	probably benign	Het
Arhgef18	T	C	8: 3,494,938 (GRCm39)	V399A	probably damaging	Het
Atp8b5	C	T	4: 43,372,710 (GRCm39)	P1117S	probably damaging	Het
Cd48	A	G	1: 171,527,156 (GRCm39)	Q194R	probably damaging	Het
Cdk13	G	A	13: 17,937,833 (GRCm39)	R737C	probably damaging	Het
Clasrp	A	T	7: 19,328,865 (GRCm39)	I89N	probably damaging	Het
Clrn1	G	T	3: 58,792,318 (GRCm39)	N48K	probably damaging	Het
Cntrl	T	A	2: 35,043,451 (GRCm39)	V1313E	possibly damaging	Het
Cyld	T	A	8: 89,471,444 (GRCm39)		probably null	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dtl	T	C	1: 191,301,815 (GRCm39)	T81A	probably damaging	Het
Dus1l	C	T	11: 120,682,901 (GRCm39)	E299K	probably benign	Het
E130114P18Rik	A	T	4: 97,463,129 (GRCm39)	D14E	possibly damaging	Het
Fam83g	C	A	11: 61,586,095 (GRCm39)	H228N	probably damaging	Het
Fhod3	A	T	18: 25,223,382 (GRCm39)	K909N	possibly damaging	Het
Fign	T	A	2: 63,809,363 (GRCm39)	I636L	probably benign	Het
Foxm1	A	G	6: 128,349,519 (GRCm39)	E346G	probably null	Het
Gcc2	T	C	10: 58,126,204 (GRCm39)	Y1271H	probably benign	Het
Gcn1	T	C	5: 115,754,537 (GRCm39)	V2379A	probably benign	Het
Grin2d	G	T	7: 45,483,330 (GRCm39)	P949Q	probably damaging	Het
Ighv1-43	C	A	12: 114,909,762 (GRCm39)	M53I	probably benign	Het
Itgad	A	G	7: 127,822,875 (GRCm39)	*97W	probably null	Het
Jade1	C	T	3: 41,551,106 (GRCm39)	R2*	probably null	Het
Lama3	G	T	18: 12,615,141 (GRCm39)	C1355F	probably damaging	Het
Map3k13	T	C	16: 21,710,752 (GRCm39)	S12P	probably benign	Het
Masp2	A	G	4: 148,696,608 (GRCm39)	T402A	probably benign	Het
Muc19	T	G	15: 91,761,955 (GRCm39)		noncoding transcript	Het
Muc5b	C	A	7: 141,410,590 (GRCm39)	T1321N	unknown	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Or1ad1	T	C	11: 50,875,978 (GRCm39)	V150A	probably benign	Het
Or1e35	T	A	11: 73,797,677 (GRCm39)	I214F	probably damaging	Het
Pdgfra	C	T	5: 75,342,185 (GRCm39)	P669S	probably damaging	Het
Procr	A	G	2: 155,595,384 (GRCm39)	N63D	probably damaging	Het
Prrc2c	A	G	1: 162,518,799 (GRCm39)	S2136P	probably damaging	Het
Rab11fip1	T	C	8: 27,642,769 (GRCm39)	M677V	probably benign	Het
Rad52	T	A	6: 119,889,946 (GRCm39)		probably benign	Het
Rasa1	A	G	13: 85,436,509 (GRCm39)		probably null	Het
Rogdi	T	C	16: 4,828,363 (GRCm39)	T189A	probably damaging	Het
Rph3al	G	A	11: 75,799,845 (GRCm39)	T38M	probably damaging	Het
Rps6ka2	T	A	17: 7,566,707 (GRCm39)	V655E	possibly damaging	Het
Sik3	T	C	9: 46,109,512 (GRCm39)	F499L	probably damaging	Het
Skint4	A	G	4: 112,003,728 (GRCm39)	N387S	probably benign	Het
Slc6a12	C	T	6: 121,333,862 (GRCm39)		probably benign	Het
Stk36	A	G	1: 74,665,255 (GRCm39)	T667A	probably benign	Het
Svep1	T	C	4: 58,053,212 (GRCm39)	I3378V	probably benign	Het
Thnsl1	C	T	2: 21,218,175 (GRCm39)	T122I	probably damaging	Het
Timeless	G	A	10: 128,075,889 (GRCm39)		probably benign	Het
Tnxb	G	A	17: 34,914,909 (GRCm39)	V1966I	possibly damaging	Het
Tril	A	G	6: 53,796,698 (GRCm39)	F175L	probably damaging	Het
Vav1	A	G	17: 57,613,140 (GRCm39)	Y604C	probably damaging	Het
Zfp423	T	A	8: 88,508,074 (GRCm39)	M736L	probably benign	Het
Zscan10	A	C	17: 23,826,208 (GRCm39)	E123D	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGACACTGAGGCATAGAGTAGTCTG -3'
(R):5'- ACCCTGACTTTAGGAACCAGTG -3'

Sequencing Primer
(F):5'- AGGCATAGAGTAGTCTGGTTTCAATC -3'
(R):5'- CAGTGCTGGATCTGTATGCAC -3'

Posted On

2015-11-11