Mutagenetix > Incidental Mutation

Incidental Mutation 'R7128:Adgb'

552469

Institutional Source

Beutler Lab

Gene Symbol

Adgb

Ensembl Gene

ENSMUSG00000050994

Gene Name

androglobin

Synonyms

9130014G24Rik

Accession Numbers

MGI:3605549

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7128 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10335703-10472326 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10472241 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 25 (D25G)

Ref Sequence

ENSEMBL: ENSMUSP00000136386 (fasta)

Gene Model

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

AlphaFold

G3UZ78

Predicted Effect

probably benign
Transcript: ENSMUST00000132573
AA Change: D25G

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000120422
Gene: ENSMUSG00000050994
AA Change: D25G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172530
AA Change: D25G

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134378
Gene: ENSMUSG00000050994
AA Change: D25G

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: D25G

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000136386
Gene: ENSMUSG00000050994
AA Change: D25G

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 damaging
Transcript: ENSMUST00000208717
AA Change: D25G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	T	C	19: 29,716,481 (GRCm38)	T1871A	possibly damaging	Het
Ak9	T	C	10: 41,424,717 (GRCm38)	V1641A	unknown	Het
Akap2	T	C	4: 57,855,816 (GRCm38)	S382P	probably benign	Het
Akirin2	T	C	4: 34,562,435 (GRCm38)	I118T	probably benign	Het
Aldh1l1	G	T	6: 90,563,379 (GRCm38)	Q215H	probably benign	Het
Arhgef26	T	C	3: 62,419,550 (GRCm38)	F495L	possibly damaging	Het
Atg4a-ps	T	A	3: 103,645,747 (GRCm38)	R93*	probably null	Het
AW822073	T	C	10: 58,223,657 (GRCm38)	Q425R	unknown	Het
Catsper3	A	G	13: 55,798,849 (GRCm38)	I120V	probably benign	Het
Cavin2	A	G	1: 51,289,420 (GRCm38)	Q12R	possibly damaging	Het
Cenpf	A	T	1: 189,684,991 (GRCm38)	F39Y	probably damaging	Het
Chfr	T	C	5: 110,143,636 (GRCm38)	Y107H	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470 (GRCm38)		probably benign	Het
Defb4	T	A	8: 19,201,204 (GRCm38)	I29K	possibly damaging	Het
Dnah7c	A	G	1: 46,527,485 (GRCm38)	T619A	probably benign	Het
Emc3	A	G	6: 113,517,920 (GRCm38)	L179P	probably damaging	Het
Eno3	G	C	11: 70,658,604 (GRCm38)	V84L	possibly damaging	Het
Fam110a	C	T	2: 151,970,722 (GRCm38)	V43M	probably damaging	Het
Fam159a	G	T	4: 108,367,903 (GRCm38)	T154K	probably benign	Het
Fbxo30	T	A	10: 11,290,116 (GRCm38)	L194*	probably null	Het
Galnt14	T	C	17: 73,545,101 (GRCm38)	T108A	probably benign	Het
Glipr2	T	C	4: 43,968,601 (GRCm38)	I51T	probably benign	Het
Gm1527	C	T	3: 28,915,311 (GRCm38)	S270F	possibly damaging	Het
Gm3336	A	G	8: 70,718,554 (GRCm38)	M1V	probably null	Het
Gm4744	T	C	6: 40,950,376 (GRCm38)	D15G		Het
Gm4763	C	T	7: 24,725,999 (GRCm38)		probably null	Het
Gm4924	G	A	10: 82,378,699 (GRCm38)	C777Y	unknown	Het
Gm5901	G	A	7: 105,378,201 (GRCm38)	G306S	probably damaging	Het
Gon4l	T	A	3: 88,895,692 (GRCm38)	N1203K	possibly damaging	Het
Gpr161	A	T	1: 165,310,457 (GRCm38)	Y204F	possibly damaging	Het
Igsf10	T	C	3: 59,328,905 (GRCm38)	E1285G	probably benign	Het
Irx6	T	C	8: 92,677,366 (GRCm38)	L187P	probably damaging	Het
Itgb1bp1	A	G	12: 21,272,088 (GRCm38)	Y117H	probably benign	Het
Itln1	C	A	1: 171,530,575 (GRCm38)	D202Y	possibly damaging	Het
Kctd9	T	C	14: 67,738,523 (GRCm38)	S242P	probably benign	Het
Lrrk2	A	G	15: 91,801,885 (GRCm38)	H2143R	probably benign	Het
Lynx1	G	A	15: 74,751,549 (GRCm38)	R50*	probably null	Het
Map10	A	G	8: 125,671,853 (GRCm38)	I662V	probably benign	Het
Mlxipl	T	C	5: 135,133,851 (GRCm38)	L691P	probably damaging	Het
Muc16	A	G	9: 18,643,004 (GRCm38)	S3998P	unknown	Het
Nalcn	A	T	14: 123,594,502 (GRCm38)	V120E	probably damaging	Het
Nfat5	T	C	8: 107,358,691 (GRCm38)	S539P	probably benign	Het
Olfml3	T	C	3: 103,737,168 (GRCm38)	M62V	probably benign	Het
Orm3	T	C	4: 63,357,825 (GRCm38)	V158A	probably benign	Het
Pced1b	A	T	15: 97,384,598 (GRCm38)	K173*	probably null	Het
Pdzd7	T	C	19: 45,027,949 (GRCm38)	D911G	probably damaging	Het
Pkn3	A	G	2: 30,083,315 (GRCm38)	D383G	probably damaging	Het
Pm20d1	A	G	1: 131,797,554 (GRCm38)	E46G	probably benign	Het
Pyroxd2	A	T	19: 42,731,403 (GRCm38)	S455T	probably benign	Het
Rmnd5b	T	A	11: 51,624,537 (GRCm38)	I301F	possibly damaging	Het
Rnf225	A	G	7: 12,927,984 (GRCm38)	N30S	probably benign	Het
Slfn3	T	A	11: 83,214,895 (GRCm38)	C573S	probably benign	Het
Smc6	A	G	12: 11,301,631 (GRCm38)	E887G	probably damaging	Het
Sp140	A	T	1: 85,620,125 (GRCm38)	D191V	possibly damaging	Het
Srf	C	T	17: 46,555,446 (GRCm38)	S128N	possibly damaging	Het
Sult6b1	T	C	17: 78,894,641 (GRCm38)	D144G	probably damaging	Het
Syne1	G	A	10: 5,243,180 (GRCm38)	A3956V	probably damaging	Het
Syt10	A	T	15: 89,814,111 (GRCm38)	D343E	probably damaging	Het
Tgtp2	G	A	11: 49,059,308 (GRCm38)	R146C	possibly damaging	Het
Tmcc3	A	T	10: 94,430,634 (GRCm38)		probably benign	Het
Tnfrsf1a	A	T	6: 125,361,536 (GRCm38)	T337S	probably benign	Het
Tns1	A	T	1: 73,995,304 (GRCm38)	I144N		Het
Trim11	A	G	11: 58,978,277 (GRCm38)	E13G	probably damaging	Het
Trpm6	A	T	19: 18,811,773 (GRCm38)	H569L	possibly damaging	Het
Ttbk2	T	A	2: 120,746,088 (GRCm38)	I803L	probably benign	Het
Vmn1r21	G	T	6: 57,843,951 (GRCm38)	N169K	probably damaging	Het
Vmn2r60	C	T	7: 42,195,112 (GRCm38)	T633I	probably damaging	Het
Wt1	T	C	2: 105,127,325 (GRCm38)	Y177H	probably benign	Het

Other mutations in Adgb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Adgb	APN	10	10,406,099 (GRCm38)	missense	possibly damaging	0.87
IGL01083:Adgb	APN	10	10,407,554 (GRCm38)	missense	possibly damaging	0.50
IGL03064:Adgb	APN	10	10,400,572 (GRCm38)	missense	probably benign	0.02
R0080:Adgb	UTSW	10	10,377,839 (GRCm38)	splice site	probably benign
R0084:Adgb	UTSW	10	10,396,344 (GRCm38)	missense	possibly damaging	0.74
R0112:Adgb	UTSW	10	10,407,158 (GRCm38)	splice site	probably benign
R0348:Adgb	UTSW	10	10,357,879 (GRCm38)	missense	probably benign
R0415:Adgb	UTSW	10	10,431,067 (GRCm38)	splice site	probably null
R0633:Adgb	UTSW	10	10,391,729 (GRCm38)	missense	probably benign	0.36
R1052:Adgb	UTSW	10	10,442,613 (GRCm38)	missense	probably benign	0.29
R1248:Adgb	UTSW	10	10,395,310 (GRCm38)	missense	probably damaging	0.98
R1278:Adgb	UTSW	10	10,382,828 (GRCm38)	missense	probably damaging	1.00
R1568:Adgb	UTSW	10	10,442,665 (GRCm38)	nonsense	probably null
R1647:Adgb	UTSW	10	10,395,371 (GRCm38)	missense	probably damaging	1.00
R1648:Adgb	UTSW	10	10,395,371 (GRCm38)	missense	probably damaging	1.00
R1663:Adgb	UTSW	10	10,339,675 (GRCm38)	missense	possibly damaging	0.86
R1688:Adgb	UTSW	10	10,350,317 (GRCm38)	nonsense	probably null
R1758:Adgb	UTSW	10	10,426,605 (GRCm38)	missense	probably damaging	1.00
R1772:Adgb	UTSW	10	10,382,721 (GRCm38)	splice site	probably benign
R1850:Adgb	UTSW	10	10,442,502 (GRCm38)	missense	probably damaging	1.00
R1959:Adgb	UTSW	10	10,395,249 (GRCm38)	missense	probably benign	0.02
R1980:Adgb	UTSW	10	10,433,498 (GRCm38)	missense	probably benign
R2179:Adgb	UTSW	10	10,395,274 (GRCm38)	missense	possibly damaging	0.94
R2229:Adgb	UTSW	10	10,436,051 (GRCm38)	missense	probably damaging	1.00
R2283:Adgb	UTSW	10	10,377,891 (GRCm38)	missense	probably damaging	0.99
R2870:Adgb	UTSW	10	10,431,281 (GRCm38)	critical splice donor site	probably null
R2870:Adgb	UTSW	10	10,431,281 (GRCm38)	critical splice donor site	probably null
R2875:Adgb	UTSW	10	10,422,719 (GRCm38)	missense	probably damaging	1.00
R2876:Adgb	UTSW	10	10,422,719 (GRCm38)	missense	probably damaging	1.00
R2920:Adgb	UTSW	10	10,390,243 (GRCm38)	missense	probably damaging	1.00
R2931:Adgb	UTSW	10	10,442,502 (GRCm38)	missense	possibly damaging	0.84
R3722:Adgb	UTSW	10	10,340,510 (GRCm38)	missense	probably benign	0.32
R3846:Adgb	UTSW	10	10,382,721 (GRCm38)	splice site	probably benign
R3877:Adgb	UTSW	10	10,442,483 (GRCm38)	critical splice donor site	probably null
R4210:Adgb	UTSW	10	10,407,465 (GRCm38)	missense	probably benign	0.06
R4211:Adgb	UTSW	10	10,407,465 (GRCm38)	missense	probably benign	0.06
R4333:Adgb	UTSW	10	10,442,502 (GRCm38)	missense	possibly damaging	0.84
R4448:Adgb	UTSW	10	10,390,825 (GRCm38)	missense	probably benign	0.32
R4470:Adgb	UTSW	10	10,398,951 (GRCm38)	missense	probably benign	0.02
R4624:Adgb	UTSW	10	10,403,004 (GRCm38)	missense	probably benign	0.00
R4656:Adgb	UTSW	10	10,405,306 (GRCm38)	missense	probably damaging	0.99
R4676:Adgb	UTSW	10	10,426,710 (GRCm38)	missense	probably damaging	1.00
R4792:Adgb	UTSW	10	10,398,903 (GRCm38)	missense	probably damaging	0.96
R4795:Adgb	UTSW	10	10,357,872 (GRCm38)	missense	probably benign	0.01
R4858:Adgb	UTSW	10	10,349,577 (GRCm38)	missense	probably damaging	1.00
R4985:Adgb	UTSW	10	10,400,632 (GRCm38)	missense	possibly damaging	0.69
R5057:Adgb	UTSW	10	10,357,978 (GRCm38)	missense	probably benign	0.11
R5157:Adgb	UTSW	10	10,398,966 (GRCm38)	missense	probably damaging	1.00
R5209:Adgb	UTSW	10	10,398,937 (GRCm38)	missense	possibly damaging	0.71
R5339:Adgb	UTSW	10	10,442,606 (GRCm38)	missense	probably damaging	1.00
R5376:Adgb	UTSW	10	10,346,563 (GRCm38)	missense	probably benign	0.09
R5426:Adgb	UTSW	10	10,350,260 (GRCm38)	missense	probably benign	0.14
R5516:Adgb	UTSW	10	10,431,157 (GRCm38)	missense	probably damaging	1.00
R5554:Adgb	UTSW	10	10,340,473 (GRCm38)	missense	probably damaging	0.98
R5678:Adgb	UTSW	10	10,431,326 (GRCm38)	missense	possibly damaging	0.83
R5707:Adgb	UTSW	10	10,391,757 (GRCm38)	missense	probably damaging	1.00
R5708:Adgb	UTSW	10	10,391,757 (GRCm38)	missense	probably damaging	1.00
R5891:Adgb	UTSW	10	10,377,847 (GRCm38)	nonsense	probably null
R5928:Adgb	UTSW	10	10,378,787 (GRCm38)	missense	probably damaging	1.00
R6005:Adgb	UTSW	10	10,395,352 (GRCm38)	missense	probably damaging	1.00
R6017:Adgb	UTSW	10	10,450,036 (GRCm38)	missense	probably damaging	1.00
R6049:Adgb	UTSW	10	10,378,026 (GRCm38)	missense	probably damaging	1.00
R6118:Adgb	UTSW	10	10,431,291 (GRCm38)	missense	probably damaging	1.00
R6175:Adgb	UTSW	10	10,398,943 (GRCm38)	missense	possibly damaging	0.94
R6186:Adgb	UTSW	10	10,422,758 (GRCm38)	missense	probably damaging	1.00
R6234:Adgb	UTSW	10	10,353,080 (GRCm38)	splice site	probably null
R6383:Adgb	UTSW	10	10,450,028 (GRCm38)	missense	probably damaging	1.00
R6522:Adgb	UTSW	10	10,377,892 (GRCm38)	nonsense	probably null
R6639:Adgb	UTSW	10	10,435,956 (GRCm38)	missense	possibly damaging	0.51
R6697:Adgb	UTSW	10	10,406,126 (GRCm38)	nonsense	probably null
R6742:Adgb	UTSW	10	10,411,849 (GRCm38)	missense	probably damaging	1.00
R6745:Adgb	UTSW	10	10,390,197 (GRCm38)	missense	probably damaging	1.00
R6850:Adgb	UTSW	10	10,394,574 (GRCm38)	missense	probably benign	0.39
R7326:Adgb	UTSW	10	10,400,574 (GRCm38)	missense	possibly damaging	0.80
R7386:Adgb	UTSW	10	10,377,949 (GRCm38)	missense	possibly damaging	0.52
R7431:Adgb	UTSW	10	10,391,955 (GRCm38)	splice site	probably null
R7569:Adgb	UTSW	10	10,431,252 (GRCm38)	missense	probably benign
R7579:Adgb	UTSW	10	10,410,818 (GRCm38)	nonsense	probably null
R7582:Adgb	UTSW	10	10,390,821 (GRCm38)	missense	probably damaging	1.00
R7615:Adgb	UTSW	10	10,436,010 (GRCm38)	missense	probably damaging	0.96
R7692:Adgb	UTSW	10	10,411,712 (GRCm38)	critical splice donor site	probably null
R7774:Adgb	UTSW	10	10,339,660 (GRCm38)	nonsense	probably null
R7808:Adgb	UTSW	10	10,378,659 (GRCm38)	splice site	probably null
R8158:Adgb	UTSW	10	10,378,734 (GRCm38)	missense	probably benign	0.22
R8386:Adgb	UTSW	10	10,350,304 (GRCm38)	missense	probably damaging	1.00
R8746:Adgb	UTSW	10	10,405,284 (GRCm38)	critical splice donor site	probably null
R8785:Adgb	UTSW	10	10,357,966 (GRCm38)	missense	probably damaging	1.00
R9089:Adgb	UTSW	10	10,442,688 (GRCm38)	missense	probably benign	0.26
R9140:Adgb	UTSW	10	10,340,519 (GRCm38)	nonsense	probably null
R9386:Adgb	UTSW	10	10,398,964 (GRCm38)	missense	probably benign	0.00
R9777:Adgb	UTSW	10	10,407,470 (GRCm38)	missense	possibly damaging	0.74
X0003:Adgb	UTSW	10	10,394,630 (GRCm38)	missense	possibly damaging	0.76
Z1176:Adgb	UTSW	10	10,378,742 (GRCm38)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- ACGGAAGTGGCTCTAGACTGAG -3'
(R):5'- AAAGCTGTCTTCACTCGGCC -3'

Sequencing Primer
(F):5'- TGGCTCTAGACTGAGGTTGATAAAG -3'
(R):5'- AGCCTTCCGGTTGTCAGAAC -3'

Posted On

2019-05-15