Mutagenetix > Incidental Mutation

Incidental Mutation 'R6913:Mill2'

539165

Institutional Source

Beutler Lab

Gene Symbol

Mill2

Ensembl Gene

ENSMUSG00000040987

Gene Name

MHC I like leukocyte 2

Synonyms

MMRRC Submission

045034-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R6913 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18573891-18599327 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18590351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 144 (T144A)

Ref Sequence

ENSEMBL: ENSMUSP00000154268 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072386] [ENSMUST00000072415] [ENSMUST00000206487] [ENSMUST00000227379] [ENSMUST00000228493]

AlphaFold

Q8HWE5

Predicted Effect

probably null
Transcript: ENSMUST00000072386
AA Change: T144A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000072223
Gene: ENSMUSG00000040987
AA Change: T144A

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:MHC_I_3	39	224	2.5e-14	PFAM
Pfam:MHC_I	49	225	1.5e-33	PFAM
IGc1	244	316	7.82e-6	SMART
low complexity region	332	354	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000072415
AA Change: T129A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072246
Gene: ENSMUSG00000040987
AA Change: T129A

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:MHC_I	34	210	5.9e-33	PFAM
IGc1	229	301	7.82e-6	SMART
low complexity region	317	339	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000206487

Predicted Effect

probably null
Transcript: ENSMUST00000227379
AA Change: T129A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably null
Transcript: ENSMUST00000228493
AA Change: T144A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.9%

Validation Efficiency

97% (74/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a heavily glycosylated protein which is a ligand for the NKG2D type II receptor. Binding of the ligand activates the cytolytic response of natural killer (NK) cells, CD8 alphabeta T cells, and gammadelta T cells which express the receptor. This protein is stress-induced and is similar to MHC class I molecules; however, it does not associate with beta-2-microglobulin or bind peptides. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,197,494 (GRCm39)	I619N	possibly damaging	Het
Accsl	T	C	2: 93,696,488 (GRCm39)	K41E	possibly damaging	Het
Actr6	T	C	10: 89,562,558 (GRCm39)	E107G	probably damaging	Het
Adam7	T	A	14: 68,771,100 (GRCm39)	M9L	probably benign	Het
Adamts12	T	A	15: 11,215,778 (GRCm39)	H266Q	probably damaging	Het
Adamts16	A	G	13: 70,877,017 (GRCm39)	F1208S	possibly damaging	Het
Ankrd11	T	C	8: 123,621,650 (GRCm39)	D734G	probably benign	Het
Ap1b1	T	C	11: 4,962,972 (GRCm39)	V43A	possibly damaging	Het
Asnsd1	A	G	1: 53,387,390 (GRCm39)	V79A	probably damaging	Het
Aste1	T	A	9: 105,274,607 (GRCm39)	S221R	probably benign	Het
Ccndbp1	G	A	2: 120,840,347 (GRCm39)	E94K	probably benign	Het
Cdc34	G	A	10: 79,520,937 (GRCm39)		probably null	Het
Cdh16	T	C	8: 105,348,896 (GRCm39)	D67G	probably benign	Het
Chd8	T	C	14: 52,451,951 (GRCm39)	E1348G	probably damaging	Het
Chl1	C	T	6: 103,642,909 (GRCm39)	Q216*	probably null	Het
Cse1l	G	A	2: 166,771,797 (GRCm39)	V353I	possibly damaging	Het
Ctbp2	G	A	7: 132,616,455 (GRCm39)	S160F	possibly damaging	Het
Cyp1a1	C	A	9: 57,607,576 (GRCm39)	T68K	probably damaging	Het
Dennd11	T	C	6: 40,383,851 (GRCm39)	N397S	possibly damaging	Het
Dlgap2	T	A	8: 14,828,374 (GRCm39)	M594K	probably benign	Het
Dnah6	C	T	6: 73,189,505 (GRCm39)	E48K	probably benign	Het
Dock2	A	G	11: 34,647,049 (GRCm39)	V35A	probably damaging	Het
Edem2	A	T	2: 155,568,594 (GRCm39)	S73R	probably damaging	Het
Eps15	T	C	4: 109,218,427 (GRCm39)	V430A	probably benign	Het
Frem2	T	C	3: 53,424,242 (GRCm39)	N3065S	probably damaging	Het
Gal3st4	A	T	5: 138,269,090 (GRCm39)	S123R	possibly damaging	Het
Garnl3	T	A	2: 32,876,841 (GRCm39)	I937F	possibly damaging	Het
Gfod2	C	T	8: 106,443,995 (GRCm39)	V183M	possibly damaging	Het
Glipr1l1	T	C	10: 111,898,339 (GRCm39)		probably null	Het
Gm7145	T	G	1: 117,913,711 (GRCm39)	C198G	probably damaging	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
H2-Eb2	G	A	17: 34,552,523 (GRCm39)	A123T	possibly damaging	Het
Ighv1-55	T	C	12: 115,172,129 (GRCm39)	I7V	probably benign	Het
Itpripl2	G	T	7: 118,090,332 (GRCm39)	P76T	possibly damaging	Het
Kat6a	C	A	8: 23,393,215 (GRCm39)	A231E	possibly damaging	Het
Lipo3	C	T	19: 33,757,705 (GRCm39)	V255I	probably benign	Het
Mamstr	A	T	7: 45,292,662 (GRCm39)	M141L	probably benign	Het
Med13	A	G	11: 86,210,702 (GRCm39)	V480A	probably benign	Het
Mei1	A	G	15: 81,973,810 (GRCm39)	N523S	probably benign	Het
Muc16	C	A	9: 18,553,959 (GRCm39)	L4111F	unknown	Het
Mylk2	G	A	2: 152,755,610 (GRCm39)	G258E	possibly damaging	Het
Myom2	T	G	8: 15,115,710 (GRCm39)	S42A	probably benign	Het
Nab1	C	A	1: 52,503,995 (GRCm39)	G401C	possibly damaging	Het
Nifk	T	C	1: 118,260,592 (GRCm39)	V244A	possibly damaging	Het
Nipsnap2	C	A	5: 129,830,357 (GRCm39)	Q224K	probably benign	Het
Nop16	T	G	13: 54,737,553 (GRCm39)	K47Q	probably damaging	Het
Nup153	A	T	13: 46,853,192 (GRCm39)	S548R	probably damaging	Het
Or2at1	A	C	7: 99,416,924 (GRCm39)	D185A	probably damaging	Het
Or4g17	A	G	2: 111,209,347 (GRCm39)	M1V	probably null	Het
Or5b111	A	G	19: 13,290,998 (GRCm39)	I217T	probably benign	Het
Pard6g	G	A	18: 80,160,534 (GRCm39)	V216I	possibly damaging	Het
Pcdh20	C	T	14: 88,706,038 (GRCm39)	V421I	probably benign	Het
Pcif1	G	A	2: 164,726,224 (GRCm39)		probably null	Het
Pde11a	C	A	2: 76,168,084 (GRCm39)	V290F	probably damaging	Het
Pisd	T	C	5: 32,894,773 (GRCm39)	Y511C	probably damaging	Het
Polg	A	T	7: 79,110,405 (GRCm39)	D276E	probably damaging	Het
Polr3b	T	C	10: 84,549,496 (GRCm39)	V906A	probably damaging	Het
Prkcg	C	T	7: 3,362,335 (GRCm39)	P270S	probably benign	Het
Rapgef2	T	A	3: 78,993,281 (GRCm39)	I884F	probably damaging	Het
Rpl13	C	A	8: 123,830,014 (GRCm39)	N113K	possibly damaging	Het
Rxra	T	A	2: 27,631,186 (GRCm39)	I139N	probably damaging	Het
Sf3b5	T	A	10: 12,884,487 (GRCm39)	C41S	probably benign	Het
Spata31e3	G	T	13: 50,399,293 (GRCm39)	P1011H	probably damaging	Het
Stk24	C	T	14: 121,540,221 (GRCm39)	R126Q	probably damaging	Het
Taar8b	T	C	10: 23,967,963 (GRCm39)	D77G	possibly damaging	Het
Tbc1d1	T	A	5: 64,468,452 (GRCm39)	C566S	probably benign	Het
Tenm3	A	T	8: 48,751,972 (GRCm39)	M948K	probably damaging	Het
Thbs4	T	A	13: 92,894,444 (GRCm39)	Q693L	possibly damaging	Het
Tnfrsf26	A	T	7: 143,172,126 (GRCm39)	C61*	probably null	Het
Trp63	A	G	16: 25,707,918 (GRCm39)	E636G	probably damaging	Het
Try5	T	C	6: 41,288,266 (GRCm39)	Y121C	probably damaging	Het
Ttn	G	T	2: 76,660,755 (GRCm39)		probably benign	Het
Vamp1	T	A	6: 125,195,908 (GRCm39)	V55D	probably damaging	Het
Vmn2r117	T	C	17: 23,698,537 (GRCm39)	N12S	probably damaging	Het
Vmn2r90	G	A	17: 17,924,323 (GRCm39)	G41S	probably damaging	Het
Zfp462	T	A	4: 55,007,775 (GRCm39)	D71E	probably benign	Het

Other mutations in Mill2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01861:Mill2	APN	7	18,590,565 (GRCm39)	missense	probably damaging	0.98
IGL02465:Mill2	APN	7	18,592,168 (GRCm39)	nonsense	probably null
IGL02876:Mill2	APN	7	18,590,432 (GRCm39)	missense	probably damaging	1.00
R1725:Mill2	UTSW	7	18,573,993 (GRCm39)	missense	probably benign	0.04
R1945:Mill2	UTSW	7	18,575,419 (GRCm39)	missense	probably benign	0.00
R1964:Mill2	UTSW	7	18,590,529 (GRCm39)	missense	probably damaging	1.00
R2260:Mill2	UTSW	7	18,590,413 (GRCm39)	missense	probably benign	0.14
R3160:Mill2	UTSW	7	18,590,099 (GRCm39)	missense	probably benign	0.32
R3162:Mill2	UTSW	7	18,590,099 (GRCm39)	missense	probably benign	0.32
R4302:Mill2	UTSW	7	18,590,456 (GRCm39)	missense	probably damaging	0.98
R4946:Mill2	UTSW	7	18,590,608 (GRCm39)	critical splice donor site	probably null
R5121:Mill2	UTSW	7	18,590,591 (GRCm39)	missense	probably benign	0.39
R5365:Mill2	UTSW	7	18,592,339 (GRCm39)	missense	probably benign	0.01
R5557:Mill2	UTSW	7	18,589,884 (GRCm39)	nonsense	probably null
R5736:Mill2	UTSW	7	18,592,174 (GRCm39)	missense	probably benign	0.01
R5998:Mill2	UTSW	7	18,573,989 (GRCm39)	missense	probably benign	0.00
R6004:Mill2	UTSW	7	18,590,463 (GRCm39)	missense	probably benign	0.32
R6016:Mill2	UTSW	7	18,590,373 (GRCm39)	missense	probably benign	0.45
R6045:Mill2	UTSW	7	18,590,489 (GRCm39)	missense	probably benign	0.01
R6534:Mill2	UTSW	7	18,590,521 (GRCm39)	missense	possibly damaging	0.91
R7386:Mill2	UTSW	7	18,592,215 (GRCm39)	missense	probably benign	0.16
R8898:Mill2	UTSW	7	18,590,489 (GRCm39)	missense	probably benign	0.01
R9229:Mill2	UTSW	7	18,590,475 (GRCm39)	missense	probably damaging	0.96
R9291:Mill2	UTSW	7	18,575,416 (GRCm39)	missense	probably benign	0.00
R9428:Mill2	UTSW	7	18,573,950 (GRCm39)	nonsense	probably null
Z1088:Mill2	UTSW	7	18,590,324 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- AAGCCATGATTCTGGGCAG -3'
(R):5'- AGGTATCTCTGGAGGTGAGCAG -3'

Sequencing Primer
(F):5'- ATGATTCTGGGCAGGGCAC -3'
(R):5'- ATGTCTTAACTAGATCAGCTCTGGG -3'

Posted On

2018-11-06