Mutagenetix > Incidental Mutations

Incidental Mutation 'R1663:Adgb'

186942

Institutional Source

Beutler Lab

Gene Symbol

Adgb

Ensembl Gene

ENSMUSG00000050994

Gene Name

androglobin

Synonyms

9130014G24Rik

MMRRC Submission

039699-MU

Accession Numbers

MGI:3605549

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1663 (G1)

Quality Score

203

Status

Not validated

Chromosome

Chromosomal Location

10335703-10472326 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10339675 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1529 (M1529V)

Ref Sequence

ENSEMBL: ENSMUSP00000146658 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000148816] [ENSMUST00000172530] [ENSMUST00000179956] [ENSMUST00000208717]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118589

Predicted Effect

probably benign
Transcript: ENSMUST00000148816

SMART Domains

Protein: ENSMUSP00000133652
Gene: ENSMUSG00000050994

Domain	Start	End	E-Value	Type
Blast:CysPc	1	41	1e-19	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000172530
AA Change: M1553V

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000134378
Gene: ENSMUSG00000050994
AA Change: M1553V

Domain	Start	End	E-Value	Type
CysPc	56	655	2.7e-2	SMART
IQ	904	926	6.41e0	SMART
low complexity region	1179	1190	N/A	INTRINSIC
low complexity region	1318	1335	N/A	INTRINSIC
coiled coil region	1534	1559	N/A	INTRINSIC
low complexity region	1616	1633	N/A	INTRINSIC
low complexity region	1649	1657	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179956
AA Change: M1556V

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000136386
Gene: ENSMUSG00000050994
AA Change: M1556V

Domain	Start	End	E-Value	Type
CysPc	56	657	5.36e-2	SMART
IQ	906	928	6.41e0	SMART
low complexity region	1181	1192	N/A	INTRINSIC
low complexity region	1321	1338	N/A	INTRINSIC
coiled coil region	1537	1562	N/A	INTRINSIC
low complexity region	1619	1636	N/A	INTRINSIC
low complexity region	1652	1660	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208717
AA Change: M1529V

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	A	8: 24,687,933	T11S	probably benign	Het
Ankrd36	T	A	11: 5,620,126	D531E	possibly damaging	Het
Ankzf1	C	T	1: 75,196,270	P337S	probably damaging	Het
Apc	A	G	18: 34,268,325	I55V	probably damaging	Het
Aplnr	A	G	2: 85,136,694	D21G	possibly damaging	Het
Apol10b	A	T	15: 77,588,714	F47I	probably damaging	Het
Arhgef5	G	A	6: 43,276,965	A1131T	probably damaging	Het
Arrb2	A	T	11: 70,437,603	Q83L	probably damaging	Het
Atf7ip	A	G	6: 136,603,324	Q1082R	possibly damaging	Het
Atl2	A	G	17: 79,864,711	S28P	probably damaging	Het
Brd7	T	C	8: 88,358,023	K89E	possibly damaging	Het
Cc2d1b	A	G	4: 108,623,547	T55A	probably damaging	Het
Ccdc18	A	G	5: 108,216,090	E1217G	probably damaging	Het
Cdc42ep4	A	T	11: 113,729,451	M38K	probably damaging	Het
Cldn14	A	G	16: 93,919,278	S227P	probably damaging	Het
Clspn	T	A	4: 126,565,975	C332S	probably benign	Het
Col5a1	T	C	2: 27,951,476	S370P	unknown	Het
Comp	T	C	8: 70,373,600	L10P	possibly damaging	Het
Dcc	A	T	18: 71,826,052	N216K	probably damaging	Het
Dcstamp	C	T	15: 39,754,944	Q250*	probably null	Het
Drd5	T	C	5: 38,320,855	F397S	probably benign	Het
Dst	T	C	1: 34,163,385	S265P	probably damaging	Het
Enam	A	T	5: 88,503,994	S1046C	probably damaging	Het
Eno3	T	C	11: 70,662,274		probably null	Het
Fam13a	G	A	6: 58,954,372	R408*	probably null	Het
Gipc2	T	A	3: 152,094,164	M310L	probably benign	Het
Gm14496	T	C	2: 181,997,437	V440A	probably benign	Het
Gzmg	A	T	14: 56,156,808	C210S	probably damaging	Het
Helb	G	T	10: 120,105,433	A450E	probably damaging	Het
Hepacam2	A	T	6: 3,483,439	I190N	possibly damaging	Het
Hk3	A	T	13: 55,006,575	S773T	probably benign	Het
Hnrnpc	A	G	14: 52,075,395	S221P	probably damaging	Het
Ifna9	T	C	4: 88,591,983	T135A	probably benign	Het
Igfn1	C	T	1: 135,968,308	G1507R	probably benign	Het
Kank3	A	G	17: 33,818,375	T218A	probably benign	Het
Kcp	G	T	6: 29,498,965	R337S	possibly damaging	Het
Krt74	A	T	15: 101,756,674		noncoding transcript	Het
Lrp1	A	T	10: 127,556,921	D2758E	probably damaging	Het
Ly75	T	C	2: 60,314,234	E1295G	probably damaging	Het
Mccc1	C	A	3: 35,978,933	W354L	probably damaging	Het
Mmp1a	C	T	9: 7,465,656	T198M	probably benign	Het
Mtmr2	C	T	9: 13,803,501	T519I	probably damaging	Het
Nbea	A	G	3: 55,645,986	S2632P	possibly damaging	Het
Nbn	T	A	4: 15,970,903	D295E	probably benign	Het
Ndufb8	T	C	19: 44,550,381	Y167C	probably damaging	Het
Nisch	A	G	14: 31,191,521		probably benign	Het
Notch3	C	T	17: 32,156,119	G407D	probably damaging	Het
Nucb1	A	G	7: 45,498,864	F175S	probably damaging	Het
Olfr355	T	G	2: 36,927,334	Y260S	probably damaging	Het
Olfr804	G	A	10: 129,705,291	V138M	probably benign	Het
Olfr834	T	A	9: 18,988,710	C241S	probably damaging	Het
Olfr907	T	G	9: 38,499,572	I301R	unknown	Het
Pip5k1c	T	C	10: 81,312,515	V425A	probably damaging	Het
Pnisr	T	A	4: 21,873,857		probably benign	Het
Prkag1	A	G	15: 98,815,895	V18A	probably damaging	Het
Rad50	T	C	11: 53,668,223	N1063S	probably benign	Het
Rnf170	C	T	8: 26,129,143	H132Y	probably damaging	Het
Rnf213	A	G	11: 119,437,672	D1977G	probably benign	Het
Sema3a	G	A	5: 13,557,125		probably null	Het
Setx	T	A	2: 29,126,905	C7S	probably damaging	Het
Slc23a2	A	G	2: 132,065,464	I417T	probably damaging	Het
Spink6	T	G	18: 44,071,521	F18C	unknown	Het
Sptbn1	T	C	11: 30,120,783	Q1538R	possibly damaging	Het
Strn3	A	G	12: 51,652,826	Y188H	probably damaging	Het
Tecpr1	C	A	5: 144,197,944	K1040N	probably benign	Het
Tll1	T	A	8: 64,017,686	Y901F	probably benign	Het
Tmem81	C	T	1: 132,507,897	A147V	probably benign	Het
Tnpo3	T	C	6: 29,565,759	D532G	probably benign	Het
Vmn2r19	T	A	6: 123,336,452	I827N	probably benign	Het
Wdr35	A	G	12: 9,020,000	K857R	probably benign	Het
Wdr60	T	C	12: 116,229,610	Q574R	probably benign	Het
Zfp110	A	G	7: 12,848,642	T406A	probably benign	Het
Zfp52	T	C	17: 21,561,822	L644P	possibly damaging	Het
Zfp605	G	A	5: 110,127,585	V190I	probably benign	Het
Zfp964	A	G	8: 69,664,083		probably null	Het
Zmynd8	A	G	2: 165,807,885	S779P	probably benign	Het
Zswim5	T	A	4: 116,986,895	N1043K	probably damaging	Het

Other mutations in Adgb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Adgb	APN	10	10406099	missense	possibly damaging	0.87
IGL01083:Adgb	APN	10	10407554	missense	possibly damaging	0.50
IGL03064:Adgb	APN	10	10400572	missense	probably benign	0.02
R0080:Adgb	UTSW	10	10377839	splice site	probably benign
R0084:Adgb	UTSW	10	10396344	missense	possibly damaging	0.74
R0112:Adgb	UTSW	10	10407158	splice site	probably benign
R0348:Adgb	UTSW	10	10357879	missense	probably benign
R0415:Adgb	UTSW	10	10431067	splice site	probably null
R0633:Adgb	UTSW	10	10391729	missense	probably benign	0.36
R1052:Adgb	UTSW	10	10442613	missense	probably benign	0.29
R1248:Adgb	UTSW	10	10395310	missense	probably damaging	0.98
R1278:Adgb	UTSW	10	10382828	missense	probably damaging	1.00
R1568:Adgb	UTSW	10	10442665	nonsense	probably null
R1647:Adgb	UTSW	10	10395371	missense	probably damaging	1.00
R1648:Adgb	UTSW	10	10395371	missense	probably damaging	1.00
R1688:Adgb	UTSW	10	10350317	nonsense	probably null
R1758:Adgb	UTSW	10	10426605	missense	probably damaging	1.00
R1772:Adgb	UTSW	10	10382721	splice site	probably benign
R1850:Adgb	UTSW	10	10442502	missense	probably damaging	1.00
R1959:Adgb	UTSW	10	10395249	missense	probably benign	0.02
R1980:Adgb	UTSW	10	10433498	missense	probably benign
R2179:Adgb	UTSW	10	10395274	missense	possibly damaging	0.94
R2229:Adgb	UTSW	10	10436051	missense	probably damaging	1.00
R2283:Adgb	UTSW	10	10377891	missense	probably damaging	0.99
R2870:Adgb	UTSW	10	10431281	critical splice donor site	probably null
R2870:Adgb	UTSW	10	10431281	critical splice donor site	probably null
R2875:Adgb	UTSW	10	10422719	missense	probably damaging	1.00
R2876:Adgb	UTSW	10	10422719	missense	probably damaging	1.00
R2920:Adgb	UTSW	10	10390243	missense	probably damaging	1.00
R2931:Adgb	UTSW	10	10442502	missense	possibly damaging	0.84
R3722:Adgb	UTSW	10	10340510	missense	probably benign	0.32
R3846:Adgb	UTSW	10	10382721	splice site	probably benign
R3877:Adgb	UTSW	10	10442483	critical splice donor site	probably null
R4210:Adgb	UTSW	10	10407465	missense	probably benign	0.06
R4211:Adgb	UTSW	10	10407465	missense	probably benign	0.06
R4333:Adgb	UTSW	10	10442502	missense	possibly damaging	0.84
R4448:Adgb	UTSW	10	10390825	missense	probably benign	0.32
R4470:Adgb	UTSW	10	10398951	missense	probably benign	0.02
R4624:Adgb	UTSW	10	10403004	missense	probably benign	0.00
R4656:Adgb	UTSW	10	10405306	missense	probably damaging	0.99
R4676:Adgb	UTSW	10	10426710	missense	probably damaging	1.00
R4792:Adgb	UTSW	10	10398903	missense	probably damaging	0.96
R4795:Adgb	UTSW	10	10357872	missense	probably benign	0.01
R4858:Adgb	UTSW	10	10349577	missense	probably damaging	1.00
R4985:Adgb	UTSW	10	10400632	missense	possibly damaging	0.69
R5057:Adgb	UTSW	10	10357978	missense	probably benign	0.11
R5157:Adgb	UTSW	10	10398966	missense	probably damaging	1.00
R5209:Adgb	UTSW	10	10398937	missense	possibly damaging	0.71
R5339:Adgb	UTSW	10	10442606	missense	probably damaging	1.00
R5376:Adgb	UTSW	10	10346563	missense	probably benign	0.09
R5426:Adgb	UTSW	10	10350260	missense	probably benign	0.14
R5516:Adgb	UTSW	10	10431157	missense	probably damaging	1.00
R5554:Adgb	UTSW	10	10340473	missense	probably damaging	0.98
R5678:Adgb	UTSW	10	10431326	missense	possibly damaging	0.83
R5707:Adgb	UTSW	10	10391757	missense	probably damaging	1.00
R5708:Adgb	UTSW	10	10391757	missense	probably damaging	1.00
R5891:Adgb	UTSW	10	10377847	nonsense	probably null
R5928:Adgb	UTSW	10	10378787	missense	probably damaging	1.00
R6005:Adgb	UTSW	10	10395352	missense	probably damaging	1.00
R6017:Adgb	UTSW	10	10450036	missense	probably damaging	1.00
R6049:Adgb	UTSW	10	10378026	missense	probably damaging	1.00
R6118:Adgb	UTSW	10	10431291	missense	probably damaging	1.00
R6175:Adgb	UTSW	10	10398943	missense	possibly damaging	0.94
R6186:Adgb	UTSW	10	10422758	missense	probably damaging	1.00
R6234:Adgb	UTSW	10	10353080	intron	probably null
R6383:Adgb	UTSW	10	10450028	missense	probably damaging	1.00
R6522:Adgb	UTSW	10	10377892	nonsense	probably null
R6639:Adgb	UTSW	10	10435956	missense	possibly damaging	0.51
R6697:Adgb	UTSW	10	10406126	nonsense	probably null
R6742:Adgb	UTSW	10	10411849	missense	probably damaging	1.00
R6745:Adgb	UTSW	10	10390197	missense	probably damaging	1.00
R6850:Adgb	UTSW	10	10394574	missense	probably benign	0.39
X0003:Adgb	UTSW	10	10394630	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- GCTATTTATACCGCTAGACTTACCCGC -3'
(R):5'- GCAACAGCAACAAATTCCTTTGGACCT -3'

Sequencing Primer
(F):5'- GCATCTCTCCATACATTTCCAGAAC -3'
(R):5'- ATGAGTCAGTATACAGTACCTAACC -3'

Posted On

2014-05-09