Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03064:Adgb'

409611

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adgb

Ensembl Gene

ENSMUSG00000050994

Gene Name

androglobin

Synonyms

9130014G24Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03064

Quality Score

Status

Chromosome

Chromosomal Location

10211447-10348070 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10276316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 351 (T351S)

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: T351S

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000045452
Gene: ENSMUSG00000050994
AA Change: T351S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000132573
AA Change: T749S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000120422
Gene: ENSMUSG00000050994
AA Change: T749S

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	G	7: 119,174,864 (GRCm39)	T210A	probably damaging	Het
Akap9	A	G	5: 4,018,755 (GRCm39)	H1112R	probably damaging	Het
Angptl6	A	T	9: 20,786,939 (GRCm39)	Y261*	probably null	Het
Arhgef10l	A	C	4: 140,306,590 (GRCm39)	F395V	probably damaging	Het
Bub1	T	C	2: 127,659,373 (GRCm39)	N328S	probably benign	Het
Cacna1s	A	G	1: 136,039,731 (GRCm39)	N1186D	probably damaging	Het
Cacna2d2	C	A	9: 107,386,474 (GRCm39)	F200L	probably damaging	Het
Calca	G	A	7: 114,232,919 (GRCm39)	S110L	probably benign	Het
Ccdc120	G	A	X: 7,601,601 (GRCm39)	P263S	probably benign	Het
Dcaf8l	A	G	X: 88,448,857 (GRCm39)	V424A	possibly damaging	Het
Dgki	C	A	6: 37,126,599 (GRCm39)		probably benign	Het
Ear1	G	T	14: 44,056,502 (GRCm39)	S122*	probably null	Het
F5	A	T	1: 164,023,163 (GRCm39)	T1574S	probably benign	Het
Fam227b	T	C	2: 125,968,762 (GRCm39)		probably null	Het
Gm20521	T	A	14: 55,134,680 (GRCm39)	S301T	possibly damaging	Het
Hsd17b7	A	T	1: 169,787,287 (GRCm39)	I239N	probably benign	Het
Itih1	C	A	14: 30,663,514 (GRCm39)	E163D	probably benign	Het
Lama1	A	T	17: 68,086,099 (GRCm39)	Y1446F	probably benign	Het
Lama3	C	T	18: 12,572,406 (GRCm39)	T537M	possibly damaging	Het
Lars1	G	T	18: 42,354,636 (GRCm39)	Y770*	probably null	Het
Lrp2	A	T	2: 69,313,477 (GRCm39)	V2418E	probably damaging	Het
Maip1	A	G	1: 57,446,359 (GRCm39)	E143G	probably damaging	Het
Mast4	G	T	13: 102,897,472 (GRCm39)	S739*	probably null	Het
Mctp1	C	T	13: 76,949,632 (GRCm39)	Q555*	probably null	Het
Med14	A	T	X: 12,613,742 (GRCm39)	D291E	probably benign	Het
Mgat2	T	A	12: 69,231,777 (GRCm39)	V117D	probably damaging	Het
Mllt1	A	T	17: 57,207,094 (GRCm39)	M250K	probably benign	Het
Myt1	A	C	2: 181,439,594 (GRCm39)	Y372S	probably benign	Het
Naa16	T	A	14: 79,577,068 (GRCm39)	Q735H	probably damaging	Het
Ncf4	A	G	15: 78,135,102 (GRCm39)	Y53C	probably damaging	Het
Nlrp4a	A	T	7: 26,148,934 (GRCm39)	K180N	probably benign	Het
Nova1	A	G	12: 46,746,861 (GRCm39)	V472A	probably damaging	Het
Nup153	T	C	13: 46,847,315 (GRCm39)	T705A	probably benign	Het
Odf2	T	A	2: 29,791,091 (GRCm39)	N79K	probably benign	Het
Or4f7	A	G	2: 111,644,768 (GRCm39)	I101T	possibly damaging	Het
Pard3b	G	A	1: 62,237,930 (GRCm39)		probably benign	Het
Pde8b	G	A	13: 95,182,906 (GRCm39)	T388I	probably damaging	Het
Phactr2	A	G	10: 13,264,457 (GRCm39)		probably benign	Het
Phf12	T	C	11: 77,874,186 (GRCm39)	S17P	probably damaging	Het
Psmg2	T	A	18: 67,779,102 (GRCm39)	L90*	probably null	Het
Ryr2	T	C	13: 11,658,788 (GRCm39)		probably null	Het
Sec23b	T	C	2: 144,423,952 (GRCm39)	F534L	probably benign	Het
Sin3b	A	G	8: 73,483,686 (GRCm39)		probably benign	Het
Slc30a5	A	T	13: 100,947,818 (GRCm39)	L463Q	probably damaging	Het
Slc35g3	T	C	11: 69,651,895 (GRCm39)	H52R	possibly damaging	Het
Slc6a3	G	T	13: 73,719,585 (GRCm39)	S538I	probably damaging	Het
Socs2	G	T	10: 95,248,713 (GRCm39)	C133*	probably null	Het
Srebf2	G	A	15: 82,076,423 (GRCm39)	R691H	probably benign	Het
Tlr11	C	A	14: 50,598,557 (GRCm39)	P181Q	probably damaging	Het
Tlr7	T	A	X: 166,089,203 (GRCm39)	Q761L	possibly damaging	Het
Tmem120b	T	A	5: 123,240,336 (GRCm39)	Y90N	possibly damaging	Het
Tpcn1	T	C	5: 120,675,631 (GRCm39)	I778V	possibly damaging	Het
Ttll8	T	C	15: 88,803,797 (GRCm39)	T385A	probably benign	Het
Vmn1r223	G	A	13: 23,434,153 (GRCm39)	R249H	probably damaging	Het
Vmn2r53	A	T	7: 12,334,937 (GRCm39)	I241N	possibly damaging	Het
Wdfy3	T	C	5: 102,083,863 (GRCm39)	R808G	probably damaging	Het
Zfyve26	T	A	12: 79,308,565 (GRCm39)	S231C	probably damaging	Het

Other mutations in Adgb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Adgb	APN	10	10,281,843 (GRCm39)	missense	possibly damaging	0.87
IGL01083:Adgb	APN	10	10,283,298 (GRCm39)	missense	possibly damaging	0.50
R0080:Adgb	UTSW	10	10,253,583 (GRCm39)	splice site	probably benign
R0084:Adgb	UTSW	10	10,272,088 (GRCm39)	missense	possibly damaging	0.74
R0112:Adgb	UTSW	10	10,282,902 (GRCm39)	splice site	probably benign
R0348:Adgb	UTSW	10	10,233,623 (GRCm39)	missense	probably benign
R0415:Adgb	UTSW	10	10,306,811 (GRCm39)	splice site	probably null
R0633:Adgb	UTSW	10	10,267,473 (GRCm39)	missense	probably benign	0.36
R1052:Adgb	UTSW	10	10,318,357 (GRCm39)	missense	probably benign	0.29
R1248:Adgb	UTSW	10	10,271,054 (GRCm39)	missense	probably damaging	0.98
R1278:Adgb	UTSW	10	10,258,572 (GRCm39)	missense	probably damaging	1.00
R1568:Adgb	UTSW	10	10,318,409 (GRCm39)	nonsense	probably null
R1647:Adgb	UTSW	10	10,271,115 (GRCm39)	missense	probably damaging	1.00
R1648:Adgb	UTSW	10	10,271,115 (GRCm39)	missense	probably damaging	1.00
R1663:Adgb	UTSW	10	10,215,419 (GRCm39)	missense	possibly damaging	0.86
R1688:Adgb	UTSW	10	10,226,061 (GRCm39)	nonsense	probably null
R1758:Adgb	UTSW	10	10,302,349 (GRCm39)	missense	probably damaging	1.00
R1772:Adgb	UTSW	10	10,258,465 (GRCm39)	splice site	probably benign
R1850:Adgb	UTSW	10	10,318,246 (GRCm39)	missense	probably damaging	1.00
R1959:Adgb	UTSW	10	10,270,993 (GRCm39)	missense	probably benign	0.02
R1980:Adgb	UTSW	10	10,309,242 (GRCm39)	missense	probably benign
R2179:Adgb	UTSW	10	10,271,018 (GRCm39)	missense	possibly damaging	0.94
R2229:Adgb	UTSW	10	10,311,795 (GRCm39)	missense	probably damaging	1.00
R2283:Adgb	UTSW	10	10,253,635 (GRCm39)	missense	probably damaging	0.99
R2870:Adgb	UTSW	10	10,307,025 (GRCm39)	critical splice donor site	probably null
R2870:Adgb	UTSW	10	10,307,025 (GRCm39)	critical splice donor site	probably null
R2875:Adgb	UTSW	10	10,298,463 (GRCm39)	missense	probably damaging	1.00
R2876:Adgb	UTSW	10	10,298,463 (GRCm39)	missense	probably damaging	1.00
R2920:Adgb	UTSW	10	10,265,987 (GRCm39)	missense	probably damaging	1.00
R2931:Adgb	UTSW	10	10,318,246 (GRCm39)	missense	possibly damaging	0.84
R3722:Adgb	UTSW	10	10,216,254 (GRCm39)	missense	probably benign	0.32
R3846:Adgb	UTSW	10	10,258,465 (GRCm39)	splice site	probably benign
R3877:Adgb	UTSW	10	10,318,227 (GRCm39)	critical splice donor site	probably null
R4210:Adgb	UTSW	10	10,283,209 (GRCm39)	missense	probably benign	0.06
R4211:Adgb	UTSW	10	10,283,209 (GRCm39)	missense	probably benign	0.06
R4333:Adgb	UTSW	10	10,318,246 (GRCm39)	missense	possibly damaging	0.84
R4448:Adgb	UTSW	10	10,266,569 (GRCm39)	missense	probably benign	0.32
R4470:Adgb	UTSW	10	10,274,695 (GRCm39)	missense	probably benign	0.02
R4624:Adgb	UTSW	10	10,278,748 (GRCm39)	missense	probably benign	0.00
R4656:Adgb	UTSW	10	10,281,050 (GRCm39)	missense	probably damaging	0.99
R4676:Adgb	UTSW	10	10,302,454 (GRCm39)	missense	probably damaging	1.00
R4792:Adgb	UTSW	10	10,274,647 (GRCm39)	missense	probably damaging	0.96
R4795:Adgb	UTSW	10	10,233,616 (GRCm39)	missense	probably benign	0.01
R4858:Adgb	UTSW	10	10,225,321 (GRCm39)	missense	probably damaging	1.00
R4985:Adgb	UTSW	10	10,276,376 (GRCm39)	missense	possibly damaging	0.69
R5057:Adgb	UTSW	10	10,233,722 (GRCm39)	missense	probably benign	0.11
R5157:Adgb	UTSW	10	10,274,710 (GRCm39)	missense	probably damaging	1.00
R5209:Adgb	UTSW	10	10,274,681 (GRCm39)	missense	possibly damaging	0.71
R5339:Adgb	UTSW	10	10,318,350 (GRCm39)	missense	probably damaging	1.00
R5376:Adgb	UTSW	10	10,222,307 (GRCm39)	missense	probably benign	0.09
R5426:Adgb	UTSW	10	10,226,004 (GRCm39)	missense	probably benign	0.14
R5516:Adgb	UTSW	10	10,306,901 (GRCm39)	missense	probably damaging	1.00
R5554:Adgb	UTSW	10	10,216,217 (GRCm39)	missense	probably damaging	0.98
R5678:Adgb	UTSW	10	10,307,070 (GRCm39)	missense	possibly damaging	0.83
R5707:Adgb	UTSW	10	10,267,501 (GRCm39)	missense	probably damaging	1.00
R5708:Adgb	UTSW	10	10,267,501 (GRCm39)	missense	probably damaging	1.00
R5891:Adgb	UTSW	10	10,253,591 (GRCm39)	nonsense	probably null
R5928:Adgb	UTSW	10	10,254,531 (GRCm39)	missense	probably damaging	1.00
R6005:Adgb	UTSW	10	10,271,096 (GRCm39)	missense	probably damaging	1.00
R6017:Adgb	UTSW	10	10,325,780 (GRCm39)	missense	probably damaging	1.00
R6049:Adgb	UTSW	10	10,253,770 (GRCm39)	missense	probably damaging	1.00
R6118:Adgb	UTSW	10	10,307,035 (GRCm39)	missense	probably damaging	1.00
R6175:Adgb	UTSW	10	10,274,687 (GRCm39)	missense	possibly damaging	0.94
R6186:Adgb	UTSW	10	10,298,502 (GRCm39)	missense	probably damaging	1.00
R6234:Adgb	UTSW	10	10,228,824 (GRCm39)	splice site	probably null
R6383:Adgb	UTSW	10	10,325,772 (GRCm39)	missense	probably damaging	1.00
R6522:Adgb	UTSW	10	10,253,636 (GRCm39)	nonsense	probably null
R6639:Adgb	UTSW	10	10,311,700 (GRCm39)	missense	possibly damaging	0.51
R6697:Adgb	UTSW	10	10,281,870 (GRCm39)	nonsense	probably null
R6742:Adgb	UTSW	10	10,287,593 (GRCm39)	missense	probably damaging	1.00
R6745:Adgb	UTSW	10	10,265,941 (GRCm39)	missense	probably damaging	1.00
R6850:Adgb	UTSW	10	10,270,318 (GRCm39)	missense	probably benign	0.39
R7128:Adgb	UTSW	10	10,347,985 (GRCm39)	missense	probably benign	0.26
R7326:Adgb	UTSW	10	10,276,318 (GRCm39)	missense	possibly damaging	0.80
R7386:Adgb	UTSW	10	10,253,693 (GRCm39)	missense	possibly damaging	0.52
R7431:Adgb	UTSW	10	10,267,699 (GRCm39)	splice site	probably null
R7569:Adgb	UTSW	10	10,306,996 (GRCm39)	missense	probably benign
R7579:Adgb	UTSW	10	10,286,562 (GRCm39)	nonsense	probably null
R7582:Adgb	UTSW	10	10,266,565 (GRCm39)	missense	probably damaging	1.00
R7615:Adgb	UTSW	10	10,311,754 (GRCm39)	missense	probably damaging	0.96
R7692:Adgb	UTSW	10	10,287,456 (GRCm39)	critical splice donor site	probably null
R7774:Adgb	UTSW	10	10,215,404 (GRCm39)	nonsense	probably null
R7808:Adgb	UTSW	10	10,254,403 (GRCm39)	splice site	probably null
R8158:Adgb	UTSW	10	10,254,478 (GRCm39)	missense	probably benign	0.22
R8386:Adgb	UTSW	10	10,226,048 (GRCm39)	missense	probably damaging	1.00
R8746:Adgb	UTSW	10	10,281,028 (GRCm39)	critical splice donor site	probably null
R8785:Adgb	UTSW	10	10,233,710 (GRCm39)	missense	probably damaging	1.00
R9089:Adgb	UTSW	10	10,318,432 (GRCm39)	missense	probably benign	0.26
R9140:Adgb	UTSW	10	10,216,263 (GRCm39)	nonsense	probably null
R9386:Adgb	UTSW	10	10,274,708 (GRCm39)	missense	probably benign	0.00
R9777:Adgb	UTSW	10	10,283,214 (GRCm39)	missense	possibly damaging	0.74
X0003:Adgb	UTSW	10	10,270,374 (GRCm39)	missense	possibly damaging	0.76
Z1176:Adgb	UTSW	10	10,254,486 (GRCm39)	missense	probably benign	0.09

Posted On

2016-08-02