Mutagenetix > Incidental Mutation

Incidental Mutation 'R6049:Adgb'

483456

Institutional Source

Beutler Lab

Gene Symbol

Adgb

Ensembl Gene

ENSMUSG00000050994

Gene Name

androglobin

Synonyms

9130014G24Rik

MMRRC Submission

044217-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6049 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10211447-10348070 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10253770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1190 (L1190P)

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 damaging
Transcript: ENSMUST00000172530
AA Change: L1188P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134378
Gene: ENSMUSG00000050994
AA Change: L1188P

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 damaging
Transcript: ENSMUST00000179956
AA Change: L1190P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136386
Gene: ENSMUSG00000050994
AA Change: L1190P

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: L1164P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.1880

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	G	A	4: 103,088,520 (GRCm39)	H229Y	probably benign	Het
Aadacl2fm2	A	C	3: 59,659,570 (GRCm39)	D341A	probably damaging	Het
Abcd2	A	G	15: 91,062,439 (GRCm39)	F500L	probably benign	Het
Adgrv1	A	G	13: 81,545,473 (GRCm39)	V5604A	probably benign	Het
Ank2	T	A	3: 126,736,669 (GRCm39)	T3072S	possibly damaging	Het
Arhgap39	A	G	15: 76,611,601 (GRCm39)		probably null	Het
C6	T	C	15: 4,764,654 (GRCm39)	C117R	probably damaging	Het
Cacna1a	A	G	8: 85,365,475 (GRCm39)	E2206G	probably damaging	Het
Cd2bp2	A	T	7: 126,793,007 (GRCm39)	F338L	probably damaging	Het
Cemip2	A	T	19: 21,803,490 (GRCm39)	Q841L	probably benign	Het
Cngb1	T	C	8: 95,997,470 (GRCm39)	D575G	probably damaging	Het
Cplane2	T	A	4: 140,945,473 (GRCm39)	V108D	probably benign	Het
Crat	A	G	2: 30,293,553 (GRCm39)	F63S	probably damaging	Het
Crybg3	T	C	16: 59,364,417 (GRCm39)	T2402A	probably benign	Het
Ctsq	A	G	13: 61,186,572 (GRCm39)		probably null	Het
Cux1	T	C	5: 136,361,564 (GRCm39)	R248G	probably damaging	Het
D7Ertd443e	T	C	7: 133,899,961 (GRCm39)	H420R	probably benign	Het
Deup1	A	G	9: 15,472,552 (GRCm39)	F587L	possibly damaging	Het
Dnah6	T	C	6: 73,063,149 (GRCm39)	K2651R	probably benign	Het
Dnah7b	A	G	1: 46,124,762 (GRCm39)	I144V	probably benign	Het
Dnajc1	T	C	2: 18,236,511 (GRCm39)		probably null	Het
Fscb	T	C	12: 64,521,094 (GRCm39)	N124S	possibly damaging	Het
Gabbr2	A	G	4: 46,787,641 (GRCm39)	Y341H	probably damaging	Het
Greb1	T	A	12: 16,731,395 (GRCm39)	I1648F	probably damaging	Het
Hace1	A	T	10: 45,562,758 (GRCm39)	N758Y	probably damaging	Het
Irs2	A	C	8: 11,056,805 (GRCm39)	D542E	probably benign	Het
Kat6a	T	A	8: 23,429,053 (GRCm39)	H1469Q	possibly damaging	Het
Kif15	G	A	9: 122,840,687 (GRCm39)	R36K	probably damaging	Het
Krt42	C	T	11: 100,157,886 (GRCm39)	V193M	probably damaging	Het
Limch1	A	T	5: 67,188,203 (GRCm39)	E878V	probably benign	Het
Med18	G	T	4: 132,187,024 (GRCm39)	D158E	probably benign	Het
Med6	T	C	12: 81,638,097 (GRCm39)	N38S	probably damaging	Het
Mup13	T	C	4: 61,183,596 (GRCm39)	T76A	probably benign	Het
Nlrp4b	T	A	7: 10,448,640 (GRCm39)	L281*	probably null	Het
Or5h23	A	T	16: 58,906,509 (GRCm39)	C112*	probably null	Het
Or7g28	C	A	9: 19,272,640 (GRCm39)	G4*	probably null	Het
Or9r3	A	T	10: 129,948,481 (GRCm39)	H59Q	probably benign	Het
Pde4d	A	T	13: 109,169,119 (GRCm39)	R54*	probably null	Het
Pdpk1	A	T	17: 24,317,109 (GRCm39)	Y251*	probably null	Het
Pdzk1	A	G	3: 96,758,979 (GRCm39)	E128G	probably benign	Het
Phf12	A	G	11: 77,918,996 (GRCm39)		probably null	Het
Pnliprp2	A	G	19: 58,748,884 (GRCm39)	E63G	possibly damaging	Het
Prkcd	T	C	14: 30,329,254 (GRCm39)	E62G	possibly damaging	Het
Prl7b1	G	T	13: 27,790,161 (GRCm39)	D77E	probably benign	Het
Rbck1	G	T	2: 152,165,094 (GRCm39)	C85*	probably null	Het
Rfx3	A	T	19: 27,779,795 (GRCm39)	M481K	probably damaging	Het
Rmdn3	A	G	2: 118,983,906 (GRCm39)	F159L	probably damaging	Het
Rpusd3	A	C	6: 113,394,802 (GRCm39)		probably null	Het
Ska1	T	C	18: 74,335,671 (GRCm39)	T100A	probably benign	Het
Slc1a3	T	C	15: 8,675,177 (GRCm39)	E276G	probably damaging	Het
Slc27a6	T	A	18: 58,731,732 (GRCm39)	Y361N	probably damaging	Het
Smc1b	A	G	15: 85,005,896 (GRCm39)	L336S	probably damaging	Het
St7	A	G	6: 17,694,347 (GRCm39)	D46G	possibly damaging	Het
Supt5	A	G	7: 28,014,622 (GRCm39)	I1059T	probably benign	Het
Syne1	A	T	10: 5,297,926 (GRCm39)	S1124T	possibly damaging	Het
Szt2	A	G	4: 118,260,185 (GRCm39)	S54P	probably damaging	Het
Tanc2	G	A	11: 105,758,543 (GRCm39)	R768Q	probably damaging	Het
Tbc1d7	A	C	13: 43,312,836 (GRCm39)	M19R	probably damaging	Het
Tbpl2	T	C	2: 23,985,004 (GRCm39)	N47D	possibly damaging	Het
Tgfbr3	C	T	5: 107,266,351 (GRCm39)	A790T	probably damaging	Het
Tnr	T	C	1: 159,740,324 (GRCm39)	V1166A	probably damaging	Het
Ttn	G	A	2: 76,676,654 (GRCm39)		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CAGTTAATGTACCTGTTGTGGC -3'
(R):5'- GGCCAACTCCAATGACTGAC -3'

Sequencing Primer
(F):5'- GTGGCGTGCTAGAATTTTCTTC -3'
(R):5'- TGGGAACTGAACAAGGATCCTCTTC -3'

Posted On

2017-07-14