Mutagenetix > Incidental Mutation

Incidental Mutation 'R4624:Adgb'

346423

Institutional Source

Beutler Lab

Gene Symbol

Adgb

Ensembl Gene

ENSMUSG00000050994

Gene Name

androglobin

Synonyms

9130014G24Rik

MMRRC Submission

041889-MU

Accession Numbers

MGI:3605549

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4624 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10335703-10472326 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 10403004 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 267 (V267L)

Ref Sequence

ENSEMBL: ENSMUSP00000045452 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045328] [ENSMUST00000132573] [ENSMUST00000148816] [ENSMUST00000172530] [ENSMUST00000179956] [ENSMUST00000208717]

AlphaFold

G3UZ78

Predicted Effect

probably benign
Transcript: ENSMUST00000045328
AA Change: V267L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000045452
Gene: ENSMUSG00000050994
AA Change: V267L

Domain	Start	End	E-Value	Type
Blast:CysPc	11	257	1e-165	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000132573
AA Change: V665L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120422
Gene: ENSMUSG00000050994
AA Change: V665L

Domain	Start	End	E-Value	Type
CysPc	56	655	2.7e-2	SMART

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: V665L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134378
Gene: ENSMUSG00000050994
AA Change: V665L

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

probably benign
Transcript: ENSMUST00000179956
AA Change: V667L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000136386
Gene: ENSMUSG00000050994
AA Change: V667L

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

probably benign
Transcript: ENSMUST00000208717
AA Change: V641L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

93% (85/91)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	A	G	4: 126,612,080	T134A	possibly damaging	Het
Adamts18	C	T	8: 113,773,168	W371*	probably null	Het
Akr1c13	G	T	13: 4,197,870	V214F	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Ankrd52	A	G	10: 128,389,259	H863R	probably damaging	Het
Ap3b1	A	G	13: 94,483,226	R766G	unknown	Het
Apol7c	A	G	15: 77,526,395	F117S	probably damaging	Het
Bcr	A	T	10: 75,153,920	E716V	probably damaging	Het
Borcs6	T	C	11: 69,060,597	L267P	probably damaging	Het
Ccdc184	A	T	15: 98,168,757	N148Y	probably benign	Het
Ccdc50	A	G	16: 27,436,601	K223R	probably null	Het
Cd2	T	G	3: 101,287,431	K114Q	probably benign	Het
Cdh19	T	C	1: 110,932,251	K167E	probably benign	Het
Cep131	T	C	11: 120,070,832	E558G	probably damaging	Het
Cmya5	A	T	13: 93,063,551	V3423E	probably damaging	Het
Cnot6l	A	G	5: 96,077,211	V541A	probably benign	Het
Cntn5	A	T	9: 9,704,804	C663*	probably null	Het
Dnah12	T	C	14: 26,735,758	I893T	possibly damaging	Het
Dopey1	G	A	9: 86,521,525	V129M	probably damaging	Het
Dyx1c1	A	G	9: 72,964,171	I238V	probably benign	Het
Exoc6b	A	G	6: 84,854,809		probably benign	Het
Ext2	A	G	2: 93,703,200	V671A	probably benign	Het
Fcamr	T	G	1: 130,803,262	L28R	probably damaging	Het
Fer1l6	T	C	15: 58,553,705	I144T	probably damaging	Het
Frem1	A	G	4: 82,989,106	L839P	probably damaging	Het
Fscn2	A	T	11: 120,367,343	I364F	probably benign	Het
Gm10291	T	C	3: 78,917,274		noncoding transcript	Het
Gm29125	T	C	1: 80,384,959		noncoding transcript	Het
Grin2b	T	C	6: 135,733,825	M908V	probably damaging	Het
Helz2	T	C	2: 181,239,308	E436G	probably damaging	Het
Hfe	A	T	13: 23,706,078	C149*	probably null	Het
Hs1bp3	T	C	12: 8,336,357	V253A	probably benign	Het
Kat14	A	G	2: 144,404,220		probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Kcnh3	T	A	15: 99,226,372	D47E	probably damaging	Het
Kcp	A	G	6: 29,482,814	F1419L	possibly damaging	Het
Kera	A	G	10: 97,609,631	N284S	probably benign	Het
Klhl24	A	G	16: 20,120,123	D476G	probably damaging	Het
Krt79	T	A	15: 101,939,806	T137S	possibly damaging	Het
Lilrb4a	A	G	10: 51,491,488	Y42C	probably damaging	Het
Lnx1	C	T	5: 74,660,460		probably benign	Het
Map3k14	A	G	11: 103,231,101	Y497H	probably damaging	Het
Mut	G	A	17: 40,947,055	E371K	probably damaging	Het
Nkx2-6	A	G	14: 69,174,926	Q181R	probably damaging	Het
Notch1	T	C	2: 26,478,081	K631R	possibly damaging	Het
Olfr1436	C	T	19: 12,298,983	V50I	probably benign	Het
Pcdh9	T	A	14: 93,886,409	N775I	probably damaging	Het
Phkb	T	A	8: 85,848,712		probably benign	Het
Pick1	T	A	15: 79,246,466	I250N	probably damaging	Het
Plec	T	C	15: 76,175,135	E3556G	probably damaging	Het
Prex2	C	T	1: 11,289,265	Q1566*	probably null	Het
Ptgr2	T	G	12: 84,308,354	F287L	possibly damaging	Het
Ptprv	T	C	1: 135,124,131		noncoding transcript	Het
Rab5b	G	T	10: 128,683,261	H83Q	probably benign	Het
Ranbp6	A	T	19: 29,810,863	Y696*	probably null	Het
Rapgef3	G	T	15: 97,758,929	D318E	probably damaging	Het
Rmi1	A	G	13: 58,409,136	R400G	probably benign	Het
Rsrc1	T	C	3: 67,349,978	V241A	probably damaging	Het
Ryr2	A	T	13: 12,106,415	I11N	possibly damaging	Het
S100a11	T	C	3: 93,526,014	L55P	probably damaging	Het
Sec13	A	G	6: 113,729,691	S254P	probably benign	Het
Slc25a36	G	A	9: 97,079,125	T147I	probably damaging	Het
Spata31d1c	A	G	13: 65,036,597	E651G	probably benign	Het
Stox2	C	A	8: 47,193,816	R203L	probably damaging	Het
Tbc1d30	A	T	10: 121,296,786	D224E	probably damaging	Het
Tdrd6	A	G	17: 43,625,990	L1389P	probably damaging	Het
Tmprss11b	T	C	5: 86,665,036	S134G	probably benign	Het
Tmtc2	A	T	10: 105,303,650	S672T	probably benign	Het
Tnnt1	G	A	7: 4,512,268		probably benign	Het
Tpst2	A	G	5: 112,308,296	M234V	probably damaging	Het
Ttbk2	T	C	2: 120,773,323	D208G	probably benign	Het
Ube2c	A	G	2: 164,772,173	N143S	possibly damaging	Het
Unc45b	T	A	11: 82,926,009	M425K	probably benign	Het
Uvssa	G	A	5: 33,389,956	E289K	possibly damaging	Het
Vmn2r11	T	A	5: 109,052,235	R451W	probably damaging	Het
Vmn2r45	T	C	7: 8,481,342	Y488C	probably damaging	Het
Vmn2r55	T	A	7: 12,670,700	I259F	possibly damaging	Het
Wdfy3	C	T	5: 101,884,083	R2277Q	possibly damaging	Het
Wdr64	T	G	1: 175,772,263	M111R	probably benign	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
R1663:Adgb	UTSW	10	10339675	missense	possibly damaging	0.86
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
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	splice site	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
R7128:Adgb	UTSW	10	10472241	missense	probably benign	0.26
R7326:Adgb	UTSW	10	10400574	missense	possibly damaging	0.80
R7386:Adgb	UTSW	10	10377949	missense	possibly damaging	0.52
R7431:Adgb	UTSW	10	10391955	splice site	probably null
R7569:Adgb	UTSW	10	10431252	missense	probably benign
R7579:Adgb	UTSW	10	10410818	nonsense	probably null
R7582:Adgb	UTSW	10	10390821	missense	probably damaging	1.00
R7615:Adgb	UTSW	10	10436010	missense	probably damaging	0.96
R7692:Adgb	UTSW	10	10411712	critical splice donor site	probably null
R7774:Adgb	UTSW	10	10339660	nonsense	probably null
R7808:Adgb	UTSW	10	10378659	splice site	probably null
R8158:Adgb	UTSW	10	10378734	missense	probably benign	0.22
R8386:Adgb	UTSW	10	10350304	missense	probably damaging	1.00
R8746:Adgb	UTSW	10	10405284	critical splice donor site	probably null
R8785:Adgb	UTSW	10	10357966	missense	probably damaging	1.00
R9089:Adgb	UTSW	10	10442688	missense	probably benign	0.26
R9140:Adgb	UTSW	10	10340519	nonsense	probably null
R9386:Adgb	UTSW	10	10398964	missense	probably benign	0.00
R9777:Adgb	UTSW	10	10407470	missense	possibly damaging	0.74
X0003:Adgb	UTSW	10	10394630	missense	possibly damaging	0.76
Z1176:Adgb	UTSW	10	10378742	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- AGTTAGCACAGTCCCCAGTG -3'
(R):5'- AGTCTGGGTCTCCTTACCTG -3'

Sequencing Primer
(F):5'- TCCCCAGTGTGAGAGAAGC -3'
(R):5'- GGGTCTCCTTACCTGTCTGG -3'

Posted On

2015-09-25