Mutagenetix > Incidental Mutation

Incidental Mutation 'R5516:Adgb'

431297

Institutional Source

Beutler Lab

Gene Symbol

Adgb

Ensembl Gene

ENSMUSG00000050994

Gene Name

androglobin

Synonyms

9130014G24Rik

MMRRC Submission

043075-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5516 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10211447-10348070 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10306901 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 334 (K334R)

Ref Sequence

ENSEMBL: ENSMUSP00000136386 (fasta)

Gene Model

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

AlphaFold

G3UZ78

Predicted Effect

probably benign
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
AA Change: K361R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000120422
Gene: ENSMUSG00000050994
AA Change: K361R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000172530
AA Change: K361R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000134378
Gene: ENSMUSG00000050994
AA Change: K361R

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: K334R

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

SMART Domains

Protein: ENSMUSP00000136386
Gene: ENSMUSG00000050994
AA Change: K334R

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

possibly damaging
Transcript: ENSMUST00000208717
AA Change: K355R

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.0936

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.2%
20x: 90.4%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l1	A	T	6: 90,573,927 (GRCm39)	I809F	possibly damaging	Het
Bmp2k	T	A	5: 97,235,312 (GRCm39)		probably benign	Het
C1qtnf9	T	A	14: 61,017,198 (GRCm39)	C243S	probably damaging	Het
Cacna1c	G	A	6: 119,034,179 (GRCm39)	A146V	probably damaging	Het
Ccdc85c	A	G	12: 108,174,109 (GRCm39)	V353A	probably damaging	Het
Cd300ld2	G	T	11: 114,903,270 (GRCm39)		probably benign	Het
Cd320	A	G	17: 34,067,021 (GRCm39)	Q170R	possibly damaging	Het
Cfap43	C	T	19: 47,726,648 (GRCm39)		probably null	Het
Chid1	A	G	7: 141,076,059 (GRCm39)	S365P	probably damaging	Het
Chrna7	T	G	7: 62,749,046 (GRCm39)	T479P	probably damaging	Het
Clasp1	G	T	1: 118,425,451 (GRCm39)	R35L	probably damaging	Het
Cluh	G	A	11: 74,551,270 (GRCm39)	R373H	probably damaging	Het
Cyp2b23	G	A	7: 26,372,482 (GRCm39)	R378*	probably null	Het
Cyp2d9	T	G	15: 82,338,528 (GRCm39)	N136K	probably null	Het
Efcab5	A	T	11: 77,079,615 (GRCm39)	S44T	possibly damaging	Het
Esrrg	A	T	1: 187,930,927 (GRCm39)	L316F	possibly damaging	Het
Fam222a	T	C	5: 114,749,889 (GRCm39)	Y362H	probably damaging	Het
Fat3	A	G	9: 15,910,005 (GRCm39)	V1999A	probably damaging	Het
Fes	A	T	7: 80,036,931 (GRCm39)	M51K	probably damaging	Het
Fmo3	T	A	1: 162,781,995 (GRCm39)	K453*	probably null	Het
Galnt1	A	G	18: 24,413,074 (GRCm39)	N458S	probably benign	Het
Gm8888	T	A	15: 96,664,855 (GRCm39)		noncoding transcript	Het
Gpn2	G	A	4: 133,312,190 (GRCm39)		probably null	Het
Grm4	G	A	17: 27,657,385 (GRCm39)	T464I	probably benign	Het
Insr	T	A	8: 3,205,764 (GRCm39)	K1342*	probably null	Het
Krt87	T	A	15: 101,385,002 (GRCm39)	K365*	probably null	Het
Lfng	T	C	5: 140,599,018 (GRCm39)	L309P	probably damaging	Het
Lnpk	T	C	2: 74,378,132 (GRCm39)		probably benign	Het
Lrrc8e	A	C	8: 4,285,818 (GRCm39)	D681A	probably damaging	Het
Lyst	G	A	13: 13,818,707 (GRCm39)	D1326N	probably benign	Het
Mmp27	A	G	9: 7,579,063 (GRCm39)	R413G	probably null	Het
Nags	C	T	11: 102,036,773 (GRCm39)	Q121*	probably null	Het
Nectin1	A	G	9: 43,715,090 (GRCm39)	E442G	probably benign	Het
Nek1	G	C	8: 61,542,523 (GRCm39)	A729P	probably benign	Het
Or51a24	A	G	7: 103,733,444 (GRCm39)	I281T	possibly damaging	Het
Pnp2	C	T	14: 51,201,195 (GRCm39)	A189V	probably benign	Het
Ppm1m	T	A	9: 106,075,138 (GRCm39)	I136F	probably damaging	Het
Pramel21	A	G	4: 143,342,253 (GRCm39)	Q120R	possibly damaging	Het
Psg17	G	T	7: 18,548,458 (GRCm39)	Q438K	probably benign	Het
Ptprk	C	T	10: 28,372,926 (GRCm39)	R726*	probably null	Het
Rab3gap2	A	T	1: 184,967,684 (GRCm39)	Y163F	probably benign	Het
Scrib	A	T	15: 75,934,712 (GRCm39)	L627Q	possibly damaging	Het
Tcp1	A	G	17: 13,143,221 (GRCm39)	K510R	probably damaging	Het
Tle4	A	T	19: 14,432,253 (GRCm39)	I481N	probably damaging	Het
Tmem43	G	T	6: 91,455,192 (GRCm39)	R56L	possibly damaging	Het
Trmt10a	T	C	3: 137,857,957 (GRCm39)	I168T	possibly damaging	Het
Trpv1	A	T	11: 73,136,809 (GRCm39)	Y96F	probably benign	Het
Tshz3	C	T	7: 36,469,775 (GRCm39)	T588I	probably benign	Het
Ugt2b38	A	G	5: 87,559,702 (GRCm39)	F397L	probably damaging	Het
Vmn2r11	A	G	5: 109,195,032 (GRCm39)	S765P	probably damaging	Het
Zfp668	A	G	7: 127,466,318 (GRCm39)	F289L	probably damaging	Het
Zfp735	A	G	11: 73,601,640 (GRCm39)	T195A	probably benign	Het
Zscan10	A	G	17: 23,828,333 (GRCm39)	T182A	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- GGGCGTGACAAGACACATTG -3'
(R):5'- AGAGCCCAGTTCTGAAAGC -3'

Sequencing Primer
(F):5'- CGTGACAAGACACATTGAGAGTTC -3'
(R):5'- GAGCCCAGTTCTGAAAGCAAAATC -3'

Posted On

2016-10-05