Mutagenetix > Incidental Mutation

Incidental Mutation 'R4792:Adgb'

368691

Institutional Source

Beutler Lab

Gene Symbol

Adgb

Ensembl Gene

ENSMUSG00000050994

Gene Name

androglobin

Synonyms

9130014G24Rik

MMRRC Submission

042419-MU

Accession Numbers

MGI:3605549

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4792 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10335703-10472326 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 10398903 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 770 (T770I)

Ref Sequence

ENSEMBL: ENSMUSP00000136386 (fasta)

Gene Model

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

AlphaFold

G3UZ78

Predicted Effect

probably benign
Transcript: ENSMUST00000045328

SMART Domains

Protein: ENSMUSP00000045452
Gene: ENSMUSG00000050994

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

Predicted Effect

probably benign
Transcript: ENSMUST00000132573

SMART Domains

Protein: ENSMUSP00000120422
Gene: ENSMUSG00000050994

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

possibly damaging
Transcript: ENSMUST00000172530
AA Change: T768I

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134378
Gene: ENSMUSG00000050994
AA Change: T768I

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 damaging
Transcript: ENSMUST00000179956
AA Change: T770I

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000136386
Gene: ENSMUSG00000050994
AA Change: T770I

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: T744I

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

97% (89/92)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016G14Rik	A	G	13: 24,746,507		probably benign	Het
2310061N02Rik	A	G	16: 88,707,763	S49P	possibly damaging	Het
Abcb1a	T	C	5: 8,746,657		probably null	Het
Adgre4	A	T	17: 55,791,491	T134S	probably benign	Het
Aldh1a1	A	G	19: 20,619,985	N110S	probably damaging	Het
Alox5	C	A	6: 116,461,003	V8L	possibly damaging	Het
Ambra1	A	G	2: 91,772,846	T392A	possibly damaging	Het
Apob	A	G	12: 8,008,051	I2145V	probably benign	Het
Arhgap39	A	G	15: 76,741,517	Y196H	possibly damaging	Het
Carmil1	A	G	13: 24,067,190	L439S	probably damaging	Het
Carmil1	A	T	13: 24,141,676	S224T	possibly damaging	Het
Cfh	G	A	1: 140,100,823	Q706*	probably null	Het
Chd2	A	C	7: 73,468,577	S1098A	probably benign	Het
Chrna5	A	T	9: 55,004,701	I158F	probably damaging	Het
Col6a5	T	C	9: 105,930,784	T1022A	unknown	Het
Cul7	T	A	17: 46,657,050	Y423*	probably null	Het
Cyp2e1	T	C	7: 140,773,675	Y342H	probably benign	Het
D630045J12Rik	T	C	6: 38,148,340	K1580E	probably damaging	Het
Dnah6	A	G	6: 73,089,668	M2573T	probably damaging	Het
Edem1	T	A	6: 108,828,746		probably benign	Het
Erp29	C	T	5: 121,447,174	E86K	probably benign	Het
Esrp2	C	A	8: 106,132,509	R535L	probably damaging	Het
Gabrb2	C	T	11: 42,529,503		probably benign	Het
Gpat3	C	T	5: 100,857,173	P58L	probably benign	Het
Herc1	T	A	9: 66,495,984	V4395E	possibly damaging	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hmgb2	G	A	8: 57,513,310	C106Y	probably damaging	Het
Hoxa10	T	C	6: 52,232,501		probably benign	Het
Hsd3b1	T	A	3: 98,852,910	Y255F	probably benign	Het
Ick	A	G	9: 78,153,693	D207G	probably damaging	Het
Ighd	T	C	12: 113,416,199	K42E	probably benign	Het
Ighv1-26	T	C	12: 114,788,571	Y51C	possibly damaging	Het
Ighv5-2	C	T	12: 113,578,799	E19K	possibly damaging	Het
Ipo11	T	C	13: 106,834,160		probably benign	Het
Itk	C	T	11: 46,344,831		probably benign	Het
Kat6a	T	A	8: 22,940,576	H1982Q	unknown	Het
Kdm4d	C	T	9: 14,463,390	V391I	probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lgr6	T	A	1: 135,021,806	S229C	probably benign	Het
Lhx9	T	A	1: 138,838,351	Y233F	possibly damaging	Het
Lmf1	G	A	17: 25,654,471	V317M	probably damaging	Het
Mapk4	T	C	18: 73,937,250	T191A	probably damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Naglu	C	T	11: 101,071,106	T135M	probably damaging	Het
Nomo1	T	A	7: 46,044,219		probably null	Het
Nop56	T	A	2: 130,277,864	V75E	possibly damaging	Het
Nr1i3	G	A	1: 171,218,595	C283Y	probably damaging	Het
Olfr1269	T	A	2: 90,118,830	Y256F	possibly damaging	Het
Olfr557	G	A	7: 102,698,726	G163R	probably damaging	Het
Olfr768	T	G	10: 129,093,620	Y118S	probably damaging	Het
Pcdhga2	A	G	18: 37,669,399	S99G	probably benign	Het
Pcnx	T	A	12: 81,919,151	D697E	probably damaging	Het
Plxnb1	G	A	9: 109,110,648	D1462N	probably damaging	Het
Pnn	G	T	12: 59,072,205	V525F	possibly damaging	Het
Prrc2a	A	T	17: 35,156,487	D1062E	probably damaging	Het
Prss35	T	A	9: 86,755,669	V164E	probably damaging	Het
Psapl1	T	C	5: 36,205,203	S380P	probably benign	Het
Rnf222	A	T	11: 68,893,019	E137D	probably damaging	Het
Rsph10b	A	G	5: 143,937,317	T79A	probably damaging	Het
Sbf2	T	C	7: 110,351,610	Q1164R	probably damaging	Het
Scn7a	T	C	2: 66,726,248	D331G	probably damaging	Het
Shtn1	G	C	19: 59,050,873	R45G	probably damaging	Het
Sspo	G	A	6: 48,461,585	S1529N	probably benign	Het
St8sia3	T	A	18: 64,265,563	V31E	probably benign	Het
Sult1b1	A	T	5: 87,515,047	W265R	probably damaging	Het
Supt5	G	T	7: 28,316,329	Q863K	probably benign	Het
Tbc1d31	A	G	15: 57,940,728	R380G	probably benign	Het
Tdpoz1	T	A	3: 93,670,538	D313V	possibly damaging	Het
Tmem260	CAGGGACCGGCATAG	CAG	14: 48,511,994		probably benign	Het
Tpx2	A	T	2: 152,885,096	T428S	probably damaging	Het
Trip11	A	T	12: 101,885,446	H786Q	probably benign	Het
Trpc6	A	T	9: 8,626,614	M322L	probably benign	Het
Try10	T	C	6: 41,355,452	V14A	probably benign	Het
Unc13d	A	T	11: 116,070,282	F416L	probably damaging	Het
Vmn2r75	A	T	7: 86,163,170	M547K	possibly damaging	Het
Wdr78	T	C	4: 103,072,684	K370R	possibly damaging	Het
Zbp1	A	G	2: 173,209,213	F288S	probably damaging	Het
Zc3h11a	T	A	1: 133,640,698	Q71L	probably damaging	Het
Zfp40	G	A	17: 23,177,034	T193I	possibly damaging	Het
Zfp607a	T	C	7: 27,878,653	Y383H	probably benign	Het
Zfp622	T	A	15: 25,987,042	Y82*	probably null	Het
Zfp964	T	C	8: 69,664,015	F422L	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
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
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'- GGTTCTCAGAGATCACACCTCAC -3'
(R):5'- GCAAATCTAGGTAGTTATCCCTTCTG -3'

Sequencing Primer
(F):5'- GATCACACCTCACCATTTATTAGAGG -3'
(R):5'- ACTTCCAAAGTTAACTCTTCACTAAC -3'

Posted On

2016-02-04