Mutagenetix > Incidental Mutation

Incidental Mutation 'R7774:Adgb'

598776

Institutional Source

Beutler Lab

Gene Symbol

Adgb

Ensembl Gene

ENSMUSG00000050994

Gene Name

androglobin

Synonyms

9130014G24Rik

MMRRC Submission

Accession Numbers

MGI:3605549

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7774 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10335703-10472326 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 10339660 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 1561 (E1561*)

Ref Sequence

ENSEMBL: ENSMUSP00000136386 (fasta)

Gene Model

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

AlphaFold

G3UZ78

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 null
Transcript: ENSMUST00000172530
AA Change: E1558*

SMART Domains

Protein: ENSMUSP00000134378
Gene: ENSMUSG00000050994
AA Change: E1558*

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 null
Transcript: ENSMUST00000179956
AA Change: E1561*

SMART Domains

Protein: ENSMUSP00000136386
Gene: ENSMUSG00000050994
AA Change: E1561*

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 null
Transcript: ENSMUST00000208717
AA Change: E1534*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	G	T	15: 98,596,533	T809N	probably benign	Het
Adgra1	A	T	7: 139,847,712	H65L	possibly damaging	Het
Adprhl1	C	T	8: 13,248,682	V83I	probably damaging	Het
Atrnl1	G	T	19: 57,699,671	G856V	probably damaging	Het
Cc2d2b	A	G	19: 40,765,717	K177E	unknown	Het
Ccdc122	T	C	14: 77,067,939	V11A	probably benign	Het
Clasp2	T	A	9: 113,848,736		probably null	Het
Col6a1	T	C	10: 76,709,876	T921A	unknown	Het
Cul3	A	C	1: 80,269,294	D697E	probably benign	Het
Defa34	G	A	8: 21,665,962	E56K	probably benign	Het
Dhrs7c	A	G	11: 67,809,815	R63G	probably damaging	Het
Dnah3	T	A	7: 119,951,752	K136*	probably null	Het
Exoc7	T	C	11: 116,295,316	D353G	possibly damaging	Het
Fbxw21	T	C	9: 109,143,840	Y342C	probably benign	Het
Fitm2	T	A	2: 163,470,066	I76F	probably damaging	Het
Fryl	A	T	5: 73,083,384	I1291N	probably benign	Het
Fzd2	A	T	11: 102,605,488	I253F	possibly damaging	Het
Gm13089	C	T	4: 143,697,106	S371N	possibly damaging	Het
Gm5592	A	T	7: 41,289,859	Y855F	probably damaging	Het
Helz2	T	C	2: 181,233,991	Y1570C	probably benign	Het
Hist1h1t	A	G	13: 23,696,200	K112R	possibly damaging	Het
Hist4h4	G	T	6: 136,804,283	P33T	possibly damaging	Het
Ints11	A	G	4: 155,885,683	T228A	probably benign	Het
Ipo13	G	T	4: 117,914,297	N25K	probably benign	Het
Itga9	T	A	9: 118,871,900	I917N	probably damaging	Het
Krt39	T	C	11: 99,514,611		probably null	Het
Krtap13-1	C	T	16: 88,729,173	T95I	possibly damaging	Het
Ldlrad4	G	T	18: 68,235,792	E107*	probably null	Het
Lrrc6	T	G	15: 66,449,552	I247L	probably benign	Het
Ly6a	A	T	15: 74,997,567	I13N	probably damaging	Het
Mfsd4b4	T	C	10: 39,892,411	T275A	probably benign	Het
Mgat3	C	T	15: 80,211,542	T190M	probably damaging	Het
Muc5b	G	A	7: 141,842,379	R124H	unknown	Het
Mucl1	G	T	15: 103,753,684	N85K	possibly damaging	Het
Nifk	G	A	1: 118,327,661	E96K	possibly damaging	Het
Olfr290	T	A	7: 84,916,531	F251I	probably damaging	Het
Olfr600	T	C	7: 103,346,530	R133G	possibly damaging	Het
Olfr895	T	C	9: 38,269,359	V274A	probably damaging	Het
Opn3	C	T	1: 175,662,905	V397M	probably damaging	Het
Pcdha2	A	G	18: 36,941,526	M737V	probably benign	Het
Pdk4	T	A	6: 5,492,757	D98V	possibly damaging	Het
Pkhd1l1	A	G	15: 44,540,907	T2311A	probably benign	Het
Pla2r1	A	T	2: 60,530,458	C195*	probably null	Het
Polr1b	C	A	2: 129,125,544	F952L	probably damaging	Het
Ptprq	T	C	10: 107,643,669	T1166A	probably damaging	Het
Ran	G	A	5: 129,022,810	D215N	probably benign	Het
Rb1cc1	T	C	1: 6,248,085	F604L	possibly damaging	Het
Rgl1	T	A	1: 152,554,350	E227D	probably benign	Het
Sec24b	C	A	3: 129,984,197	R1204L	possibly damaging	Het
Shroom3	T	C	5: 92,950,489	L1276P	probably damaging	Het
Smarcad1	T	A	6: 65,107,830	M820K	probably damaging	Het
Sptbn1	A	T	11: 30,142,142	M541K	probably damaging	Het
Tcp11l2	T	C	10: 84,604,983	V351A	possibly damaging	Het
Tecpr2	A	G	12: 110,933,172	D658G	probably benign	Het
Tlr6	T	G	5: 64,953,385	E726D	probably damaging	Het
Tmem218	T	A	9: 37,222,568	H101Q	probably benign	Het
Tnfrsf4	C	T	4: 156,014,338	Q82*	probably null	Het
Trpm7	A	G	2: 126,813,238	V1260A	probably benign	Het
Trpm8	A	T	1: 88,330,841	E282V	probably damaging	Het
Tuba8	T	C	6: 121,223,389	V344A	probably damaging	Het
Tvp23a	A	G	16: 10,427,381		probably null	Het
Zfp174	G	A	16: 3,849,351	V135M	probably damaging	Het
Zfp418	G	A	7: 7,182,777	V580I	possibly damaging	Het
Zfp451	T	A	1: 33,805,393	E44D	probably benign	Het
Zfp521	T	C	18: 13,845,781	D525G	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
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
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'- GGTCAGATGAGTGAGTCTGC -3'
(R):5'- CGTCAGGTTTGGTTTGACTCAC -3'

Sequencing Primer
(F):5'- CAGATGAGTGAGTCTGCTTTCG -3'
(R):5'- GGTTTGGTTTGACTCACTATTAACAC -3'

Posted On

2019-11-26