Mutagenetix > Incidental Mutation

Incidental Mutation 'R7379:H2-T22'

572596

Institutional Source

Beutler Lab

Gene Symbol

H2-T22

Ensembl Gene

ENSMUSG00000056116

Gene Name

histocompatibility 2, T region locus 22

Synonyms

H2-T17, H-2T17, H-2T22

MMRRC Submission

045461-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R7379 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36348020-36353634 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 36353232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000077111 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058801] [ENSMUST00000077960] [ENSMUST00000080015] [ENSMUST00000097331] [ENSMUST00000173280]

AlphaFold

Q31615

PDB Structure

CRYSTAL STRUCTURE ANALYSIS OF THE GAMMA/DELTA T CELL LIGAND T22 [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000058801

SMART Domains

Protein: ENSMUSP00000056041
Gene: ENSMUSG00000056116

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:MHC_I	29	191	5.8e-47	PFAM
IGc1	210	281	2.06e-23	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000077960

SMART Domains

Protein: ENSMUSP00000077111
Gene: ENSMUSG00000056116

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:MHC_I	29	191	4e-47	PFAM
IGc1	210	281	2.06e-23	SMART
transmembrane domain	295	317	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000080015

SMART Domains

Protein: ENSMUSP00000078927
Gene: ENSMUSG00000056116

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:MHC_I	29	191	7.3e-47	PFAM
IGc1	210	281	2.06e-23	SMART
transmembrane domain	295	317	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097331

SMART Domains

Protein: ENSMUSP00000094943
Gene: ENSMUSG00000073407

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
low complexity region	103	115	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173280

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd12	G	A	17: 66,292,242 (GRCm39)	R1064*	probably null	Het
Ccdc149	A	G	5: 52,562,408 (GRCm39)	I206T	probably damaging	Het
Ctu1	AGGACCGGGCAGGAGCCACCTGTGTATCGCAGAGGGACCTGAGCCTTGGGAATGGAGGGGACCGGGCAGGAGCCACCTGTGTATCGCAG	AGGACCGGGCAGGAGCCACCTGTGTATCGCAG	7: 43,326,490 (GRCm39)		probably benign	Het
Cyp2j6	T	C	4: 96,414,183 (GRCm39)	T361A	probably damaging	Het
Cyp4a14	A	T	4: 115,350,907 (GRCm39)		probably null	Het
Cyp7b1	A	G	3: 18,151,538 (GRCm39)	V225A	probably benign	Het
Esf1	A	G	2: 139,996,854 (GRCm39)	I503T	probably benign	Het
Flrt2	G	A	12: 95,747,329 (GRCm39)	V556I	possibly damaging	Het
Gaa	T	C	11: 119,174,525 (GRCm39)	S791P	probably benign	Het
Hexb	A	G	13: 97,317,672 (GRCm39)	S342P	probably damaging	Het
Ift122	C	T	6: 115,903,263 (GRCm39)	R1176C	probably benign	Het
Ift57	A	G	16: 49,581,357 (GRCm39)	E341G	probably damaging	Het
Itpkc	A	T	7: 26,927,194 (GRCm39)	I240K	probably benign	Het
Kit	A	T	5: 75,808,412 (GRCm39)	S719C	probably damaging	Het
Klf1	T	A	8: 85,629,846 (GRCm39)	Y224N	possibly damaging	Het
Krt77	T	C	15: 101,769,709 (GRCm39)	E387G	probably damaging	Het
L3mbtl1	T	A	2: 162,802,899 (GRCm39)	D347E	probably damaging	Het
Map1s	A	G	8: 71,366,219 (GRCm39)	T375A	possibly damaging	Het
Mturn	A	G	6: 54,666,069 (GRCm39)	T81A	possibly damaging	Het
Mug2	A	G	6: 122,024,446 (GRCm39)	E506G	possibly damaging	Het
Notch1	A	G	2: 26,369,479 (GRCm39)	F512S	probably damaging	Het
Or10g1	T	C	14: 52,647,718 (GRCm39)	T204A	probably benign	Het
Or12e13	T	A	2: 87,664,123 (GRCm39)	C247S	probably damaging	Het
Or4c12b	T	A	2: 89,647,033 (GRCm39)	V115E	probably benign	Het
Or9s14	G	T	1: 92,536,189 (GRCm39)	C210F	possibly damaging	Het
Pcdhga10	A	G	18: 37,880,619 (GRCm39)	N127D	probably damaging	Het
Plb1	A	G	5: 32,502,983 (GRCm39)	I1148V	probably damaging	Het
Plcb1	A	G	2: 135,212,430 (GRCm39)	D1007G	probably benign	Het
Prdm16	T	A	4: 154,613,316 (GRCm39)	E37V	probably damaging	Het
Prss45	C	A	9: 110,668,261 (GRCm39)	N151K	possibly damaging	Het
Rngtt	A	T	4: 33,498,981 (GRCm39)	K513*	probably null	Het
Serpinb10	T	C	1: 107,460,117 (GRCm39)		probably benign	Het
Shc1	T	C	3: 89,334,129 (GRCm39)	V402A	probably benign	Het
Slc25a38	T	A	9: 119,949,902 (GRCm39)	L227Q	probably benign	Het
Slc6a13	A	T	6: 121,313,798 (GRCm39)	K514*	probably null	Het
Sorcs3	T	C	19: 48,760,705 (GRCm39)	V911A	possibly damaging	Het
Sptb	A	T	12: 76,657,651 (GRCm39)	I1290N	probably damaging	Het
Sptbn1	T	C	11: 30,089,292 (GRCm39)	K657E	possibly damaging	Het
Stpg4	T	A	17: 87,735,068 (GRCm39)		probably null	Het
Stx2	A	G	5: 129,064,863 (GRCm39)	V278A	possibly damaging	Het
Thoc1	A	T	18: 9,992,902 (GRCm39)	N558I	probably benign	Het
Trpm2	T	C	10: 77,750,568 (GRCm39)	T1343A	probably benign	Het
Usf3	T	A	16: 44,040,939 (GRCm39)	D1806E	probably benign	Het
Vmn2r106	C	T	17: 20,488,037 (GRCm39)	M787I	possibly damaging	Het
Wdfy4	A	G	14: 32,873,566 (GRCm39)	S248P		Het
Zeb2	G	T	2: 44,891,829 (GRCm39)		probably null	Het

Other mutations in H2-T22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01088:H2-T22	APN	17	36,352,811 (GRCm39)	missense	probably damaging	0.99
IGL02978:H2-T22	APN	17	36,352,517 (GRCm39)	missense	probably benign	0.00
R0078:H2-T22	UTSW	17	36,351,501 (GRCm39)	missense	probably damaging	0.99
R0448:H2-T22	UTSW	17	36,353,278 (GRCm39)	missense	possibly damaging	0.96
R1402:H2-T22	UTSW	17	36,351,161 (GRCm39)	missense	possibly damaging	0.95
R1402:H2-T22	UTSW	17	36,351,161 (GRCm39)	missense	possibly damaging	0.95
R1592:H2-T22	UTSW	17	36,352,469 (GRCm39)	missense	probably damaging	0.99
R1830:H2-T22	UTSW	17	36,352,434 (GRCm39)	missense	probably benign	0.00
R2105:H2-T22	UTSW	17	36,351,409 (GRCm39)	missense	probably benign	0.23
R2116:H2-T22	UTSW	17	36,349,949 (GRCm39)	splice site	probably null
R2964:H2-T22	UTSW	17	36,351,537 (GRCm39)	missense	probably damaging	1.00
R2965:H2-T22	UTSW	17	36,351,537 (GRCm39)	missense	probably damaging	1.00
R3425:H2-T22	UTSW	17	36,352,472 (GRCm39)	missense	probably damaging	1.00
R3875:H2-T22	UTSW	17	36,351,195 (GRCm39)	missense	probably benign	0.03
R4614:H2-T22	UTSW	17	36,351,429 (GRCm39)	missense	probably benign	0.28
R4691:H2-T22	UTSW	17	36,352,462 (GRCm39)	frame shift	probably null
R4870:H2-T22	UTSW	17	36,349,924 (GRCm39)	missense	probably benign	0.00
R4954:H2-T22	UTSW	17	36,352,851 (GRCm39)	missense	probably damaging	1.00
R5109:H2-T22	UTSW	17	36,350,113 (GRCm39)	nonsense	probably null
R5995:H2-T22	UTSW	17	36,352,377 (GRCm39)	missense	probably benign	0.18
R7597:H2-T22	UTSW	17	36,351,408 (GRCm39)	missense	probably damaging	1.00
R8719:H2-T22	UTSW	17	36,352,835 (GRCm39)	missense	probably benign	0.04
R8861:H2-T22	UTSW	17	36,353,290 (GRCm39)	missense	possibly damaging	0.86
R9661:H2-T22	UTSW	17	36,353,371 (GRCm39)	start gained	probably benign
Z1088:H2-T22	UTSW	17	36,352,530 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAAGCGAGTGTGAACCTGGG -3'
(R):5'- CACTAGTTCTCACTTTCTGTAGGG -3'

Sequencing Primer
(F):5'- GATGAGACCCCGACCTCCTC -3'
(R):5'- CTGCAGAATTGTCAGACCCAGTG -3'

Posted On

2019-09-13