Mutagenetix > Incidental Mutation

Incidental Mutation 'R6111:H2-Q5'

484872

Institutional Source

Beutler Lab

Gene Symbol

H2-Q5

Ensembl Gene

ENSMUSG00000055413

Gene Name

histocompatibility 2, Q region locus 5

Synonyms

Qat-5, H-2Q5, Qa-5, Qa5

MMRRC Submission

044260-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R6111 (G1)

Quality Score

118.008

Status

Validated

Chromosome

Chromosomal Location

35613075-35614606 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35613885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 145 (I145F)

Ref Sequence

ENSEMBL: ENSMUSP00000139605 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172979]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116010

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172979
AA Change: I145F

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139605
Gene: ENSMUSG00000055413
AA Change: I145F

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	22	191	5.7e-87	PFAM
low complexity region	293	319	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174854

Meta Mutation Damage Score

0.0867

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,476,021 (GRCm39)	E1110G	possibly damaging	Het
Abcd4	G	A	12: 84,661,888 (GRCm39)	T79I	probably damaging	Het
Acd	A	G	8: 106,424,919 (GRCm39)	M407T	probably benign	Het
Adcy2	T	A	13: 68,877,360 (GRCm39)	H460L	probably damaging	Het
Atad2	G	A	15: 57,971,487 (GRCm39)	H752Y	probably benign	Het
Bmal2	T	C	6: 146,722,097 (GRCm39)	F223L	probably benign	Het
Camsap2	A	G	1: 136,209,036 (GRCm39)	S819P	probably benign	Het
Col24a1	C	A	3: 145,019,815 (GRCm39)	T62K	probably damaging	Het
Cpne6	G	A	14: 55,752,091 (GRCm39)	V283M	probably benign	Het
D630003M21Rik	A	G	2: 158,055,368 (GRCm39)	S590P	probably damaging	Het
Daam1	T	A	12: 71,989,038 (GRCm39)	M146K	unknown	Het
Dclk2	A	G	3: 86,712,968 (GRCm39)	Y495H	probably benign	Het
Ddx4	A	T	13: 112,757,766 (GRCm39)	C330*	probably null	Het
Dlec1	T	C	9: 118,931,692 (GRCm39)	L37P	possibly damaging	Het
Dock2	G	A	11: 34,599,614 (GRCm39)	P322S	probably damaging	Het
Espl1	A	G	15: 102,208,323 (GRCm39)	E443G	probably damaging	Het
Eya4	T	A	10: 23,015,953 (GRCm39)	D338V	possibly damaging	Het
Fcmr	A	G	1: 130,805,566 (GRCm39)	I267V	probably damaging	Het
Gfra3	T	A	18: 34,823,927 (GRCm39)	H349L	probably damaging	Het
Gm25747	A	G	12: 113,392,703 (GRCm39)		probably benign	Het
Gria4	G	A	9: 4,502,430 (GRCm39)	R368C	probably damaging	Het
Hace1	A	T	10: 45,465,606 (GRCm39)	K54I	possibly damaging	Het
Ift122	T	A	6: 115,852,247 (GRCm39)	I79N	probably damaging	Het
Ino80b	A	G	6: 83,101,347 (GRCm39)	V121A	probably damaging	Het
Kcnq1	A	G	7: 142,661,474 (GRCm39)	T63A	probably benign	Het
Map4k4	C	A	1: 40,050,822 (GRCm39)	Q762K	probably benign	Het
Mios	G	A	6: 8,214,836 (GRCm39)	A11T	probably benign	Het
Nfatc1	A	G	18: 80,741,125 (GRCm39)	S278P	probably damaging	Het
Notch2	T	C	3: 98,053,609 (GRCm39)	S2091P	probably benign	Het
Nudt19	T	A	7: 35,254,952 (GRCm39)	D93V	probably benign	Het
Or8b12b	T	C	9: 37,684,228 (GRCm39)	I91T	probably damaging	Het
Osbpl2	A	G	2: 179,791,994 (GRCm39)	T233A	probably benign	Het
P3h1	C	T	4: 119,098,329 (GRCm39)	R369*	probably null	Het
Pcdhb3	A	T	18: 37,435,242 (GRCm39)	I403L	probably benign	Het
Pigo	T	C	4: 43,019,724 (GRCm39)	D935G	probably benign	Het
Plpp1	A	G	13: 113,003,451 (GRCm39)	H224R	probably damaging	Het
Rai1	T	A	11: 60,078,732 (GRCm39)	M932K	probably damaging	Het
Rexo2	A	T	9: 48,384,412 (GRCm39)	F122L	probably damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Sdc3	A	G	4: 130,546,153 (GRCm39)	T77A	unknown	Het
Skint5	T	C	4: 113,562,845 (GRCm39)	T786A	unknown	Het
Smok3c	C	A	5: 138,063,365 (GRCm39)	P284Q	probably damaging	Het
Spg11	A	G	2: 121,923,963 (GRCm39)	V786A	probably damaging	Het
Tmem273	T	C	14: 32,528,755 (GRCm39)	I40T	possibly damaging	Het
Tnfrsf10b	T	A	14: 70,020,007 (GRCm39)	C380S	possibly damaging	Het
Tsen54	T	C	11: 115,710,956 (GRCm39)	V176A	possibly damaging	Het
Ttll4	A	T	1: 74,736,698 (GRCm39)	K1141M	possibly damaging	Het
Ttpa	A	T	4: 20,014,772 (GRCm39)	I116F	probably damaging	Het
Tubgcp6	T	C	15: 88,985,123 (GRCm39)	D1655G	possibly damaging	Het
Usp38	A	G	8: 81,740,551 (GRCm39)	V172A	probably damaging	Het
Vmn2r73	A	G	7: 85,520,997 (GRCm39)	S324P	probably benign	Het
Wdr72	T	C	9: 74,117,607 (GRCm39)	M773T	probably benign	Het
Xirp2	T	A	2: 67,342,161 (GRCm39)	H1467Q	possibly damaging	Het
Zdhhc8	G	T	16: 18,042,762 (GRCm39)	S479R	probably damaging	Het
Zfp423	A	G	8: 88,509,315 (GRCm39)	V322A	probably damaging	Het
Zfp87	T	G	13: 74,520,504 (GRCm39)	E191D	probably benign	Het
Zfp933	T	C	4: 147,913,217 (GRCm39)	T14A	probably damaging	Het

Other mutations in H2-Q5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3851:H2-Q5	UTSW	17	35,613,115 (GRCm39)	missense	unknown
R4609:H2-Q5	UTSW	17	35,616,056 (GRCm39)	missense	probably benign	0.12
R5799:H2-Q5	UTSW	17	35,613,115 (GRCm39)	missense	unknown
R6197:H2-Q5	UTSW	17	35,613,918 (GRCm39)	missense	probably benign	0.26
R7226:H2-Q5	UTSW	17	35,616,089 (GRCm39)	missense
R8373:H2-Q5	UTSW	17	35,613,432 (GRCm39)	missense
R8499:H2-Q5	UTSW	17	35,613,945 (GRCm39)	nonsense	probably null
R8499:H2-Q5	UTSW	17	35,613,820 (GRCm39)	missense
R8923:H2-Q5	UTSW	17	35,613,982 (GRCm39)	missense
R9576:H2-Q5	UTSW	17	35,613,413 (GRCm39)	missense
Z1177:H2-Q5	UTSW	17	35,613,480 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TTCAGGAGCAGAACTGACCC -3'
(R):5'- AGGGTTTCTTCTTCCCCAGG -3'

Sequencing Primer
(F):5'- CAGGACTGGATTCCCTTTCAG -3'
(R):5'- TCTTCCCCAGGACTGAGC -3'

Posted On

2017-08-16