Mutagenetix > Incidental Mutation

Incidental Mutation 'R8746:Adgb'

663559

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 #

R8746 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10335703-10472326 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 10405284 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000045452 (fasta)

Gene Model

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

AlphaFold

G3UZ78

Predicted Effect

probably null
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

probably benign
Transcript: ENSMUST00000172530

SMART Domains

Protein: ENSMUSP00000134378
Gene: ENSMUSG00000050994

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

SMART Domains

Protein: ENSMUSP00000136386
Gene: ENSMUSG00000050994

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,303,410	M871K	probably benign	Het
5530400C23Rik	A	C	6: 133,294,293	E100A	possibly damaging	Het
Aatf	A	T	11: 84,511,512	I116N	probably benign	Het
Abcb11	G	T	2: 69,257,410		probably benign	Het
Adarb2	G	T	13: 8,752,644	A652S	probably benign	Het
Ankrd34a	C	T	3: 96,597,475		probably benign	Het
Ano2	A	G	6: 125,863,550	I395V	probably benign	Het
Cadm2	C	A	16: 66,784,809	R203L	probably damaging	Het
Ccr2	T	C	9: 124,106,411	F243L	probably benign	Het
Ccr4	A	G	9: 114,492,850	V49A	probably damaging	Het
Corin	T	C	5: 72,435,352	D234G	probably benign	Het
Drd5	G	T	5: 38,320,090	R142I	probably benign	Het
Dsg1b	A	G	18: 20,395,999	D264G	probably damaging	Het
Ezh2	T	C	6: 47,576,600	K61R	probably damaging	Het
Frmd4b	T	A	6: 97,292,409	T981S	probably benign	Het
Gcg	T	A	2: 62,474,981	K180N	probably damaging	Het
Gm10840	G	A	11: 106,160,916	E23K	unknown	Het
Gm2696	T	G	10: 77,815,203	C174W	unknown	Het
Grin2b	T	C	6: 135,922,987	I299V	probably benign	Het
Hepacam	T	A	9: 37,381,734	V207E	probably damaging	Het
Igf1r	T	A	7: 68,214,997	M1181K	probably damaging	Het
Lmo2	T	C	2: 103,976,039	S96P	possibly damaging	Het
Marf1	T	A	16: 14,117,304	E1533D	probably benign	Het
Megf9	A	G	4: 70,435,274	C432R	probably damaging	Het
Mpp2	A	G	11: 102,063,214	Y236H	probably damaging	Het
Neb	T	C	2: 52,282,601	I1565V	probably damaging	Het
Olfr1001-ps1	T	A	2: 85,633,877	Y149*	probably null	Het
Olfr1392	A	G	11: 49,293,166		probably benign	Het
Olfr1469	A	G	19: 13,410,728	D53G	probably benign	Het
Olfr203	T	A	16: 59,303,610	F152L	probably benign	Het
Olfr308	C	T	7: 86,321,229	C241Y	probably damaging	Het
Olfr663	A	T	7: 104,703,860	I98F	probably damaging	Het
Olfr826	T	C	10: 130,180,217	Y221C	probably damaging	Het
Patj	T	A	4: 98,505,830		probably benign	Het
Pknox1	A	T	17: 31,590,650	Q76L	possibly damaging	Het
Plekhg1	C	A	10: 3,957,777	T953K		Het
Plekhn1	C	A	4: 156,232,225	R333L	probably damaging	Het
Plk5	T	A	10: 80,358,776	V111D	probably benign	Het
Polr1b	A	G	2: 129,112,677	I398M	possibly damaging	Het
Ranbp3	T	C	17: 56,702,826	V137A	probably benign	Het
Rc3h1	T	A	1: 160,930,174	F21I	probably damaging	Het
Rgs8	T	C	1: 153,671,791	S56P	probably damaging	Het
Rhpn1	G	A	15: 75,713,576	V593M	probably damaging	Het
Sdad1	A	G	5: 92,289,925	S589P	probably benign	Het
Skp1a	A	G	11: 52,246,016	K163R	probably damaging	Het
Slf2	A	G	19: 44,973,624	Y1080C	probably damaging	Het
Tcf4	C	T	18: 69,521,501		probably benign	Het
Tmem144	C	T	3: 79,825,348	V208M	probably damaging	Het
Tmem2	G	A	19: 21,826,101	G833R	probably damaging	Het
Tomm34	A	T	2: 164,060,964	L142Q	probably benign	Het
Unc13b	T	A	4: 43,176,120	V2316D	unknown	Het
Yme1l1	T	A	2: 23,162,531	S66T	probably benign	Het
Zfc3h1	T	C	10: 115,407,980	S739P	probably damaging	Het
Zscan25	T	A	5: 145,287,347	V209E	possibly 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
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
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
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'- ACTAGTATGGCTCATGGTCTGG -3'
(R):5'- TCTATCAGCCAAACCCCTGT -3'

Sequencing Primer
(F):5'- ATGGCTCATGGTCTGGACAAG -3'
(R):5'- AAACCCCTGTCCGGATGCTC -3'

Posted On

2021-03-08