Mutagenetix > Incidental Mutations

Incidental Mutation 'R7603:H2-Q7'

588138

Institutional Source

Beutler Lab

Gene Symbol

H2-Q7

Ensembl Gene

ENSMUSG00000060550

Gene Name

histocompatibility 2, Q region locus 7

Synonyms

Ped, Qa7, Qa-7, H-2Q7

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.375) question?

Stock #

R7603 (G1)

Quality Score

136.008

Status

Validated

Chromosome

Chromosomal Location

35439155-35443773 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35439963 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 130 (L130P)

Ref Sequence

ENSEMBL: ENSMUSP00000071843 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071951] [ENSMUST00000076256] [ENSMUST00000078205] [ENSMUST00000116598]

PDB Structure

crystal structure of the non-classical MHC class Ib Qa-2 complexed with a self peptide [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000071951
AA Change: L130P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000071843
Gene: ENSMUSG00000060550
AA Change: L130P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	22	200	3e-97	PFAM
IGc1	219	290	7.68e-23	SMART
transmembrane domain	308	330	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000076256
AA Change: L130P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075606
Gene: ENSMUSG00000060550
AA Change: L130P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	22	200	3.3e-98	PFAM
IGc1	219	290	7.68e-23	SMART
low complexity region	310	325	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000078205
AA Change: L130P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077335
Gene: ENSMUSG00000060550
AA Change: L130P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	22	200	1.9e-97	PFAM
IGc1	219	290	7.68e-23	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000116598
AA Change: L130P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112297
Gene: ENSMUSG00000060550
AA Change: L130P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	22	200	8.5e-98	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (47/48)

MGI Phenotype

PHENOTYPE: This locus controls a widely distributed lymphocyte antigen recognized by monoclonal antibody, serology or CTL assay. Using all assays, antigen is present (allele a) in C57BL/6, DBA/1, DBA/2 and SWR and absent (allele b) in AKR, C3H and BALB/c. Other strain allele typings were assay-dependent. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,566,191	T709A	probably benign	Het
Abca6	T	C	11: 110,180,258	K1536E	possibly damaging	Het
Abhd16a	T	A	17: 35,101,960		probably null	Het
Actrt3	C	T	3: 30,598,547	A133T	probably benign	Het
Adcy10	C	T	1: 165,564,237	R1329W	probably damaging	Het
Apol7b	T	C	15: 77,423,456	M280V	possibly damaging	Het
Canx	A	T	11: 50,311,628	D50E	probably benign	Het
Csmd1	A	T	8: 16,288,682	D470E	probably damaging	Het
Cyp2c23	C	T	19: 44,014,930	D269N	probably damaging	Het
Ddah1	T	C	3: 145,759,019	V53A	probably benign	Het
Epha7	C	T	4: 28,871,937	S422L	probably benign	Het
Fastkd5	A	G	2: 130,615,041	V543A	possibly damaging	Het
Fggy	G	A	4: 95,769,506	G295R	probably damaging	Het
Frs2	T	C	10: 117,074,063	T465A	probably benign	Het
Glipr1	A	T	10: 111,988,832	N156K	probably benign	Het
Gnpnat1	C	T	14: 45,384,617	V40I	probably benign	Het
Herc1	T	A	9: 66,451,383	L86*	probably null	Het
Hspg2	T	C	4: 137,548,368	L2778P	probably damaging	Het
Hspg2	T	A	4: 137,557,192	I3487N	possibly damaging	Het
Htra4	T	G	8: 25,025,700	I441L	probably benign	Het
Ints7	A	T	1: 191,596,224	H203L	probably damaging	Het
Lama2	T	C	10: 27,266,680	T601A	possibly damaging	Het
Lin7b	T	C	7: 45,368,432		probably benign	Het
Lmbr1l	G	A	15: 98,908,691	Q280*	probably null	Het
Lpin3	G	T	2: 160,903,754		probably null	Het
Map1lc3b	A	T	8: 121,593,529	H27L	possibly damaging	Het
Mfsd14a	C	A	3: 116,633,883	V369F	probably damaging	Het
Ndufa12	C	T	10: 94,220,779	A123V	probably benign	Het
Nek9	A	G	12: 85,303,514	F929L	probably benign	Het
Nup210	A	T	6: 91,076,697	D279E	probably benign	Het
Olfr553	A	G	7: 102,614,938	V17A	probably benign	Het
Parp1	T	C	1: 180,600,212		probably null	Het
Phc3	T	C	3: 30,907,452	I944V	probably damaging	Het
Phf20	C	T	2: 156,302,851	A793V	probably benign	Het
Phf21a	A	C	2: 92,357,007	R540S	probably benign	Het
Pogk	A	G	1: 166,401,911	C124R	probably benign	Het
Rif1	C	T	2: 52,076,175	S93L	probably damaging	Het
Sele	A	G	1: 164,049,515	E120G	probably damaging	Het
Slc4a1ap	T	C	5: 31,546,195	L49P		Het
Snap47	T	C	11: 59,428,547	D255G	probably damaging	Het
Tcstv3	T	C	13: 120,317,610	V15A	probably damaging	Het
Tmcc1	A	T	6: 116,043,131	Y453*	probably null	Het
Tpsg1	G	T	17: 25,373,210	G86V	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Usp20	T	A	2: 31,011,474	V459E	probably damaging	Het
Vmn1r202	A	T	13: 22,501,620	L209Q	probably damaging	Het
Vps13b	T	C	15: 35,576,439	S998P	probably damaging	Het

Other mutations in H2-Q7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0735:H2-Q7	UTSW	17	35440186	critical splice donor site	probably null
R0839:H2-Q7	UTSW	17	35439712	missense	probably damaging	1.00
R1737:H2-Q7	UTSW	17	35439626	missense	probably damaging	1.00
R1831:H2-Q7	UTSW	17	35439699	missense	probably benign	0.00
R1832:H2-Q7	UTSW	17	35439699	missense	probably benign	0.00
R1833:H2-Q7	UTSW	17	35439699	missense	probably benign	0.00
R2047:H2-Q7	UTSW	17	35440147	missense	probably damaging	1.00
R4498:H2-Q7	UTSW	17	35439530	missense	probably damaging	1.00
R4657:H2-Q7	UTSW	17	35442759	missense	possibly damaging	0.86
R4784:H2-Q7	UTSW	17	35439938	missense	probably damaging	1.00
R5387:H2-Q7	UTSW	17	35439542	missense	probably damaging	1.00
R5499:H2-Q7	UTSW	17	35439940	nonsense	probably null
R6410:H2-Q7	UTSW	17	35440176	missense	probably benign	0.13
R6457:H2-Q7	UTSW	17	35439679	missense	probably damaging	1.00
R6720:H2-Q7	UTSW	17	35442678	missense	probably benign	0.05
R6943:H2-Q7	UTSW	17	35439584	missense	probably benign	0.30
R7069:H2-Q7	UTSW	17	35440031	missense	probably damaging	0.98
R7086:H2-Q7	UTSW	17	35439485	missense	probably damaging	1.00
R7303:H2-Q7	UTSW	17	35440061	missense	probably benign	0.13
R7520:H2-Q7	UTSW	17	35442710	missense	probably benign	0.04
R7747:H2-Q7	UTSW	17	35440061	missense	probably benign	0.13
R8169:H2-Q7	UTSW	17	35439934	nonsense	probably null
Z1177:H2-Q7	UTSW	17	35439162	start gained	probably benign
Z1177:H2-Q7	UTSW	17	35442500	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAAGTCCGAGTTTCAGGAGCAG -3'
(R):5'- TCTTCTTCCCCAGGACTGAG -3'

Sequencing Primer
(F):5'- GTTTCAGGAGCAGAACTGACCC -3'
(R):5'- TTCCCGAGCTGCAGGTATCTG -3'

Posted On

2019-10-24