Mutagenetix > Incidental Mutation

Incidental Mutation 'R1913:H2-Bl'

214628

Institutional Source

Beutler Lab

Gene Symbol

H2-Bl

Ensembl Gene

ENSMUSG00000073406

Gene Name

histocompatibility 2, blastocyst

Synonyms

blastocyst MHC

MMRRC Submission

039931-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R1913 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36080115-36084223 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36081016 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 237 (K237M)

Ref Sequence

ENSEMBL: ENSMUSP00000141809 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000173080] [ENSMUST00000183560] [ENSMUST00000183999] [ENSMUST00000184502] [ENSMUST00000185087] [ENSMUST00000185167] [ENSMUST00000192532] [ENSMUST00000194244] [ENSMUST00000195838] [ENSMUST00000195833]

AlphaFold

V9GXR0

Predicted Effect

probably benign
Transcript: ENSMUST00000173080
AA Change: K329M

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000134155
Gene: ENSMUSG00000073406
AA Change: K329M

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	22	200	1.6e-88	PFAM
IGc1	219	289	6.29e-19	SMART
transmembrane domain	305	327	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174067
AA Change: K237M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133982
Gene: ENSMUSG00000073406
AA Change: K237M

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	22	200	6.3e-87	PFAM
transmembrane domain	214	236	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000183560
AA Change: K55M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138812
Gene: ENSMUSG00000073406
AA Change: K55M

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
transmembrane domain	32	54	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000183999
AA Change: K69M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139165
Gene: ENSMUSG00000073406
AA Change: K69M

Domain	Start	End	E-Value	Type
low complexity region	6	14	N/A	INTRINSIC
SCOP:d1dr9a2	21	36	4e-5	SMART
transmembrane domain	46	68	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000184502
AA Change: K237M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139275
Gene: ENSMUSG00000073406
AA Change: K237M

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	22	200	6.8e-89	PFAM
transmembrane domain	214	236	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184850

Predicted Effect

probably benign
Transcript: ENSMUST00000185087

SMART Domains

Protein: ENSMUSP00000139166
Gene: ENSMUSG00000073406

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	22	113	5.2e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000185167

SMART Domains

Protein: ENSMUSP00000139373
Gene: ENSMUSG00000073406

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192532
AA Change: K319M

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000142113
Gene: ENSMUSG00000073406
AA Change: K319M

Domain	Start	End	E-Value	Type
Pfam:MHC_I	12	190	1.4e-88	PFAM
IGc1	209	279	6.29e-19	SMART
transmembrane domain	295	317	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000194244
AA Change: K237M

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141809
Gene: ENSMUSG00000073406
AA Change: K237M

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	22	118	2.9e-43	PFAM
IGc1	127	197	6.29e-19	SMART
transmembrane domain	213	235	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195838
AA Change: K318M

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000141253
Gene: ENSMUSG00000073406
AA Change: K318M

Domain	Start	End	E-Value	Type
Pfam:MHC_I	12	189	1e-82	PFAM
IGc1	208	278	6.29e-19	SMART
transmembrane domain	294	316	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000195833
AA Change: K226M

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141271
Gene: ENSMUSG00000073406
AA Change: K226M

Domain	Start	End	E-Value	Type
Pfam:MHC_I	12	107	1.8e-37	PFAM
IGc1	116	186	6.29e-19	SMART
transmembrane domain	202	224	N/A	INTRINSIC

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	T	G	5: 9,266,275	L2R	probably damaging	Het
Abca16	A	T	7: 120,541,240	I1588F	probably benign	Het
Abcc2	A	T	19: 43,807,244	T480S	probably benign	Het
Acnat1	A	G	4: 49,447,498	I361T	probably damaging	Het
Adamts10	A	T	17: 33,549,555	H869L	probably benign	Het
AF366264	T	A	8: 13,837,143	Q316L	probably benign	Het
Agpat5	T	C	8: 18,879,613	C253R	probably benign	Het
Agtrap	T	A	4: 148,083,977	H15L	probably damaging	Het
Ahnak	T	A	19: 9,007,922	V2190E	probably damaging	Het
Alx4	A	G	2: 93,675,387	E278G	probably damaging	Het
Amz2	T	C	11: 109,428,871	S28P	probably damaging	Het
Atr	T	A	9: 95,866,733	Y444N	probably benign	Het
Brdt	T	C	5: 107,348,613	I197T	probably benign	Het
Ccser1	G	T	6: 62,379,894	S772I	probably damaging	Het
Cdh16	T	C	8: 104,616,468	H657R	probably benign	Het
Ceacam5	A	T	7: 17,759,577	K842*	probably null	Het
Cep120	G	A	18: 53,723,286	T353I	probably benign	Het
Chrnb1	T	C	11: 69,793,584	N164S	possibly damaging	Het
Cse1l	T	C	2: 166,922,191	F123L	probably damaging	Het
Cul7	T	A	17: 46,663,190	L1467H	probably damaging	Het
Dcx	G	C	X: 143,923,103	L231V	probably damaging	Het
Dnah12	T	C	14: 26,792,264		probably null	Het
Dnah2	A	T	11: 69,464,930	M2227K	probably damaging	Het
Dnajc30	G	A	5: 135,064,332	A28T	probably benign	Het
Dnm1l	T	C	16: 16,329,966	T306A	probably benign	Het
Enpp3	C	A	10: 24,776,771	E763*	probably null	Het
Esyt3	T	C	9: 99,320,311	S516G	probably benign	Het
Exoc3	T	C	13: 74,182,316	Q498R	probably damaging	Het
Fbn2	T	A	18: 58,061,742	N1449I	probably damaging	Het
Fgb	T	C	3: 83,044,980	D194G	probably benign	Het
Fgd3	T	C	13: 49,263,848	D713G	possibly damaging	Het
Foxb1	T	A	9: 69,760,101	Y49F	possibly damaging	Het
Fpr3	A	G	17: 17,971,408	I314V	probably damaging	Het
Gfod1	A	T	13: 43,303,445	I18N	probably damaging	Het
Gm11492	T	C	11: 87,567,012	S71P	probably benign	Het
Gm5407	T	C	16: 49,296,920		noncoding transcript	Het
Gm7534	A	G	4: 134,192,675		probably null	Het
Gpr89	A	G	3: 96,875,633	F334L	possibly damaging	Het
Gucy2d	G	T	7: 98,443,847	V144F	probably benign	Het
H2-M10.5	C	A	17: 36,774,768	P273H	probably damaging	Het
Hcn2	A	G	10: 79,730,943	M485V	probably benign	Het
Helz2	G	T	2: 181,233,750	S1650R	probably damaging	Het
Ifnar2	T	C	16: 91,404,170	V433A	probably benign	Het
Igsf21	T	A	4: 140,107,312	Y83F	probably benign	Het
Kcnk18	A	G	19: 59,235,058	I212V	possibly damaging	Het
Kcns2	T	C	15: 34,839,709	I406T	probably damaging	Het
Krt42	C	T	11: 100,267,249	V166M	possibly damaging	Het
Lama3	T	C	18: 12,495,279	M1476T	probably benign	Het
Lcor	A	G	19: 41,558,474	R166G	probably benign	Het
Mapt	C	T	11: 104,328,075	P354L	probably damaging	Het
Mep1b	A	T	18: 21,093,229	I383F	probably benign	Het
Mpzl1	C	A	1: 165,601,805	C222F	probably benign	Het
Mug2	T	C	6: 122,070,870	L780P	probably damaging	Het
Naip2	C	T	13: 100,152,157		probably null	Het
Ndufab1	T	C	7: 122,096,691	D41G	probably benign	Het
Ntn1	A	G	11: 68,213,185	C546R	probably damaging	Het
Olfr448	T	A	6: 42,896,753	F101I	probably damaging	Het
Pakap	A	G	4: 57,892,963	E880G	probably damaging	Het
Pde6b	A	G	5: 108,427,190	E639G	probably benign	Het
Phf10	T	C	17: 14,956,809	T83A	probably benign	Het
Phkb	T	A	8: 85,901,920	I186N	possibly damaging	Het
Pkhd1	A	G	1: 20,566,756		probably null	Het
Plxnd1	C	A	6: 115,978,017	A595S	possibly damaging	Het
Ppara	T	A	15: 85,801,099	H416Q	probably damaging	Het
Prodh	T	A	16: 18,081,027	D188V	probably damaging	Het
Psmd14	A	T	2: 61,785,456	K223M	possibly damaging	Het
Ptpn5	A	G	7: 47,078,868	M528T	possibly damaging	Het
Rassf9	G	A	10: 102,544,939	E59K	probably benign	Het
Rnf2	A	T	1: 151,476,185	L140H	probably damaging	Het
Scai	A	G	2: 39,080,081	F557S	probably damaging	Het
Sdk2	A	G	11: 113,856,726	S653P	possibly damaging	Het
Sec24c	A	G	14: 20,689,111	D534G	probably benign	Het
Serinc1	A	G	10: 57,519,465	V375A	probably benign	Het
Serpinb9f	C	T	13: 33,325,846	A7V	probably damaging	Het
Smco1	T	C	16: 32,273,882	S124P	probably damaging	Het
Smim23	C	A	11: 32,824,441	C26F	possibly damaging	Het
Sppl2c	T	A	11: 104,187,889	M505K	probably benign	Het
Sprr1b	C	A	3: 92,437,468	V34F	possibly damaging	Het
Sun1	G	A	5: 139,235,732		probably null	Het
Supt16	A	G	14: 52,178,135	L381P	possibly damaging	Het
Syne2	A	G	12: 75,899,246	D364G	possibly damaging	Het
Tax1bp1	G	T	6: 52,765,952	V775F	probably damaging	Het
Tial1	T	A	7: 128,444,659	I231F	probably damaging	Het
Tiam1	C	A	16: 89,798,694	V1300L	probably damaging	Het
Tmem132e	A	G	11: 82,443,417	T585A	probably damaging	Het
Tnni3k	C	T	3: 154,979,199	A165T	probably benign	Het
Tomm40	A	T	7: 19,710,961	I165N	probably damaging	Het
Tomt	T	C	7: 101,901,247	E104G	probably damaging	Het
Topaz1	T	C	9: 122,767,013	S950P	possibly damaging	Het
Traf3ip2	C	G	10: 39,625,940	P28R	probably benign	Het
Trim24	C	T	6: 37,957,815	P822S	probably damaging	Het
Upf3a	T	G	8: 13,792,108	Y175D	probably damaging	Het
Vars2	G	A	17: 35,666,922	P69S	probably benign	Het
Veph1	T	C	3: 66,244,555	Y151C	probably damaging	Het
Vmn2r11	T	A	5: 109,054,788	D141V	probably benign	Het
Vwa5b1	G	A	4: 138,592,020	Q442*	probably null	Het
Wdr17	T	A	8: 54,687,726	D197V	probably damaging	Het
Wdr70	G	T	15: 7,884,410	T586N	possibly damaging	Het
Wfdc18	G	A	11: 83,709,928	G52R	probably benign	Het
Zc3h6	T	C	2: 129,016,620	I857T	probably damaging	Het
Zfp318	TGAAGAAGAAGAAGAAGAAGAAGAAGAAG	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	17: 46,412,514		probably benign	Het
Zfp318	GAAGAA	GAAGAACAAGAA	17: 46,412,524		probably benign	Het
Zfp647	C	T	15: 76,911,951	V170I	probably benign	Het
Zfp871	T	C	17: 32,775,917	N76D	possibly damaging	Het
Zwilch	A	G	9: 64,160,952	Y194H	probably damaging	Het

Other mutations in H2-Bl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0396:H2-Bl	UTSW	17	36083722	missense	possibly damaging	0.47
R0412:H2-Bl	UTSW	17	36081521	splice site	probably benign
R0924:H2-Bl	UTSW	17	36083932	missense	probably damaging	1.00
R1170:H2-Bl	UTSW	17	36081091	missense	possibly damaging	0.66
R1211:H2-Bl	UTSW	17	36081073	missense	probably damaging	1.00
R1902:H2-Bl	UTSW	17	36083953	missense	probably damaging	1.00
R1992:H2-Bl	UTSW	17	36081046	missense	probably damaging	0.98
R5538:H2-Bl	UTSW	17	36081286	missense	probably benign	0.35
R6021:H2-Bl	UTSW	17	36081274	missense	probably damaging	1.00
R7091:H2-Bl	UTSW	17	36083941	missense	possibly damaging	0.94
R7200:H2-Bl	UTSW	17	36081046	missense	possibly damaging	0.83
R7711:H2-Bl	UTSW	17	36083878	missense	probably damaging	0.98
R8479:H2-Bl	UTSW	17	36084219	missense	probably damaging	1.00
R9183:H2-Bl	UTSW	17	36081490	missense	unknown
R9193:H2-Bl	UTSW	17	36081064	missense	possibly damaging	0.46
R9375:H2-Bl	UTSW	17	36081101	missense	possibly damaging	0.66
R9582:H2-Bl	UTSW	17	36081483	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCTCCAGCTGGAACATAGTCCC -3'
(R):5'- ACCCTGAGTTTGTCATGGC -3'

Sequencing Primer
(F):5'- CCTTTTCTACCTGTGAGAAGAAAAAC -3'
(R):5'- GCTCAGAGCTGGGATCATAACC -3'

Posted On

2014-07-14