Mutagenetix > Incidental Mutation

Incidental Mutation 'R7579:Adgb'

586647

Institutional Source

Beutler Lab

Gene Symbol

Adgb

Ensembl Gene

ENSMUSG00000050994

Gene Name

androglobin

Synonyms

9130014G24Rik

MMRRC Submission

045633-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7579 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10211447-10348070 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 10286562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 120 (R120*)

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
AA Change: R120*

SMART Domains

Protein: ENSMUSP00000045452
Gene: ENSMUSG00000050994
AA Change: R120*

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

Predicted Effect

probably null
Transcript: ENSMUST00000132573
AA Change: R518*

SMART Domains

Protein: ENSMUSP00000120422
Gene: ENSMUSG00000050994
AA Change: R518*

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

Predicted Effect

probably null
Transcript: ENSMUST00000148816
AA Change: R31*

SMART Domains

Protein: ENSMUSP00000133652
Gene: ENSMUSG00000050994
AA Change: R31*

Domain	Start	End	E-Value	Type
Blast:CysPc	1	41	1e-19	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000172530
AA Change: R518*

SMART Domains

Protein: ENSMUSP00000134378
Gene: ENSMUSG00000050994
AA Change: R518*

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: R518*

SMART Domains

Protein: ENSMUSP00000136386
Gene: ENSMUSG00000050994
AA Change: R518*

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: R494*

Meta Mutation Damage Score

0.9666

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (51/53)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	G	T	7: 119,292,933 (GRCm39)	R21L	probably benign	Het
Adgra3	C	A	5: 50,144,977 (GRCm39)	A539S	probably benign	Het
Ank2	A	G	3: 126,740,047 (GRCm39)	S1946P	unknown	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cdc20b	A	T	13: 113,173,582 (GRCm39)		probably null	Het
Cfh	T	G	1: 140,036,328 (GRCm39)	D730A	possibly damaging	Het
Dennd1a	T	C	2: 37,748,444 (GRCm39)	H345R	probably damaging	Het
Dhx36	T	C	3: 62,388,294 (GRCm39)	S614G	possibly damaging	Het
Dio1	C	T	4: 107,149,583 (GRCm39)	V240I	possibly damaging	Het
Dnah12	A	G	14: 26,492,460 (GRCm39)	D1200G	probably benign	Het
Dpy19l4	A	T	4: 11,265,909 (GRCm39)	S680T	probably benign	Het
Eef2	CCC	CCCC	10: 81,014,602 (GRCm39)		probably null	Het
Fcrlb	T	C	1: 170,735,416 (GRCm39)		probably null	Het
Gad1	T	A	2: 70,417,476 (GRCm39)	I253K	possibly damaging	Het
Gars1	A	G	6: 55,054,688 (GRCm39)	D665G	probably damaging	Het
Gldn	A	G	9: 54,245,648 (GRCm39)	T400A	probably benign	Het
Gm1110	C	A	9: 26,795,122 (GRCm39)	V455L	possibly damaging	Het
Gm11444	A	G	11: 85,741,069 (GRCm39)	V30A	unknown	Het
Gm5134	T	C	10: 75,800,271 (GRCm39)	S51P	probably damaging	Het
Gprc6a	C	T	10: 51,502,883 (GRCm39)	A327T	probably benign	Het
Gstt2	A	T	10: 75,670,019 (GRCm39)	D34E	probably benign	Het
Icam2	A	G	11: 106,271,589 (GRCm39)	F78L	probably damaging	Het
Jakmip1	T	G	5: 37,284,802 (GRCm39)	C630G	possibly damaging	Het
Kcnu1	A	T	8: 26,386,686 (GRCm39)	N523I	probably damaging	Het
Klf10	A	G	15: 38,297,282 (GRCm39)	S253P	probably benign	Het
Mmd2	A	T	5: 142,594,361 (GRCm39)	M1K	probably null	Het
Mroh2b	G	T	15: 4,960,543 (GRCm39)	G759C	probably benign	Het
Or10w3	T	C	19: 13,704,465 (GRCm39)	L280P	probably damaging	Het
Or2b7	A	T	13: 21,740,176 (GRCm39)	N5K	probably benign	Het
Or8k32	C	T	2: 86,368,872 (GRCm39)	C127Y	probably damaging	Het
Orc5	A	G	5: 22,755,197 (GRCm39)	F22S	possibly damaging	Het
Prlr	A	G	15: 10,329,021 (GRCm39)	I499V	probably benign	Het
Ptbp1	A	G	10: 79,694,954 (GRCm39)	N94S	probably benign	Het
Rassf3	C	A	10: 121,312,103 (GRCm39)		probably benign	Het
Rbm33	C	T	5: 28,573,264 (GRCm39)	P455S	probably damaging	Het
Sgcd	C	G	11: 47,016,481 (GRCm39)	G127A	possibly damaging	Het
Slc22a13	A	G	9: 119,024,226 (GRCm39)	I336T	possibly damaging	Het
Slc25a31	A	T	3: 40,679,471 (GRCm39)	D312V	possibly damaging	Het
Slc37a4	G	A	9: 44,312,818 (GRCm39)	S324N	probably benign	Het
Slco1a5	A	G	6: 142,221,207 (GRCm39)	V13A	probably benign	Het
Srgap2	T	C	1: 131,220,371 (GRCm39)	H907R	probably damaging	Het
Supv3l1	A	C	10: 62,271,487 (GRCm39)	V381G	probably damaging	Het
Supv3l1	C	A	10: 62,271,488 (GRCm39)	V381L	possibly damaging	Het
Syne1	T	C	10: 5,299,324 (GRCm39)	D977G	probably damaging	Het
Syt3	T	A	7: 44,040,272 (GRCm39)	Y168*	probably null	Het
Tshz1	A	T	18: 84,032,790 (GRCm39)	Y539*	probably null	Het
Ttll13	A	G	7: 79,907,981 (GRCm39)	K501R	probably benign	Het
Ttn	G	A	2: 76,612,732 (GRCm39)	Q17116*	probably null	Het
Vcan	T	C	13: 89,840,577 (GRCm39)	T1656A	probably damaging	Het
Vmn1r73	G	T	7: 11,491,082 (GRCm39)	C300F	probably benign	Het
Vmn2r9	T	C	5: 108,992,948 (GRCm39)	K521E	probably damaging	Het
Zdhhc11	T	A	13: 74,130,885 (GRCm39)		probably benign	Het
Zfp760	T	C	17: 21,941,907 (GRCm39)	S361P	possibly damaging	Het
Zranb2	A	G	3: 157,246,309 (GRCm39)	Y114C	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
IGL03064:Adgb	APN	10	10,276,316 (GRCm39)	missense	probably benign	0.02
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
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

Predicted Primers

PCR Primer
(F):5'- CAGCAGGGTCTGTAAGATATTCC -3'
(R):5'- AGCAAGATCTGTAAACAGTTTCAGC -3'

Sequencing Primer
(F):5'- CAGGGTCTGTAAGATATTCCCTTTG -3'
(R):5'- ACTGAAATGTCTCTGATTGTTCTCG -3'

Posted On

2019-10-24