Mutagenetix > Incidental Mutation

Incidental Mutation 'R4470:Adgb'

329380

Institutional Source

Beutler Lab

Gene Symbol

Adgb

Ensembl Gene

ENSMUSG00000050994

Gene Name

androglobin

Synonyms

9130014G24Rik

MMRRC Submission

041727-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4470 (G1)

Quality Score

197

Status

Validated

Chromosome

Chromosomal Location

10211447-10348070 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10274695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 728 (N728S)

Ref Sequence

ENSEMBL: ENSMUSP00000146658 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045328] [ENSMUST00000132573] [ENSMUST00000148816] [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

SMART Domains

Protein: ENSMUSP00000120422
Gene: ENSMUSG00000050994

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
AA Change: N752S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000134378
Gene: ENSMUSG00000050994
AA Change: N752S

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: N754S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000136386
Gene: ENSMUSG00000050994
AA Change: N754S

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
AA Change: N728S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Meta Mutation Damage Score

0.1002

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	A	C	16: 85,595,404 (GRCm39)	V258G	possibly damaging	Het
Adcy1	A	G	11: 7,094,804 (GRCm39)	T577A	probably benign	Het
Alpk1	A	G	3: 127,473,175 (GRCm39)	S943P	probably damaging	Het
Ankdd1a	T	C	9: 65,410,791 (GRCm39)	D398G	probably damaging	Het
Asah1	A	G	8: 41,796,761 (GRCm39)		probably null	Het
Atp13a1	T	C	8: 70,251,329 (GRCm39)	S495P	probably damaging	Het
Camta2	T	C	11: 70,571,766 (GRCm39)	D510G	probably damaging	Het
Cdh8	T	A	8: 100,143,321 (GRCm39)		probably benign	Het
Cul9	C	T	17: 46,849,262 (GRCm39)	A628T	probably benign	Het
Ddx19a	A	G	8: 111,703,111 (GRCm39)	V442A	probably benign	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Dnah7c	T	A	1: 46,787,795 (GRCm39)	S3283T	possibly damaging	Het
Fmo9	T	A	1: 166,507,799 (GRCm39)	I19F	probably damaging	Het
Gmeb2	A	T	2: 180,906,938 (GRCm39)		probably null	Het
H2-K2	G	A	17: 34,219,035 (GRCm39)	R23C	probably benign	Het
Icam5	T	A	9: 20,946,802 (GRCm39)	C443*	probably null	Het
Il16	A	G	7: 83,300,046 (GRCm39)		probably benign	Het
Kcnj3	A	T	2: 55,327,877 (GRCm39)	H222L	probably damaging	Het
Lama4	T	A	10: 38,956,492 (GRCm39)	Y1138*	probably null	Het
Lpin3	A	G	2: 160,737,354 (GRCm39)	T134A	probably benign	Het
Man1b1	C	G	2: 25,222,867 (GRCm39)		probably benign	Het
Msc	G	C	1: 14,825,902 (GRCm39)	P24R	probably damaging	Het
Mylk	A	G	16: 34,732,522 (GRCm39)	K601E	probably benign	Het
Myzap	A	G	9: 71,499,563 (GRCm39)		probably benign	Het
Ncor2	A	T	5: 125,179,705 (GRCm39)		probably null	Het
Nrxn3	T	C	12: 90,171,515 (GRCm39)	S276P	probably damaging	Het
Or1j16	T	C	2: 36,530,233 (GRCm39)	F61L	probably damaging	Het
Or4c114	T	C	2: 88,905,382 (GRCm39)	N18D	probably benign	Het
Or4d6	T	C	19: 12,086,547 (GRCm39)		probably null	Het
Or51b4	G	A	7: 103,530,956 (GRCm39)	P165S	probably benign	Het
Or6c202	G	A	10: 128,996,383 (GRCm39)	L157F	probably benign	Het
Or8c13	A	G	9: 38,091,666 (GRCm39)	M151T	probably damaging	Het
Or8d1	T	C	9: 38,766,927 (GRCm39)	S190P	probably damaging	Het
Pramel5	T	C	4: 143,997,915 (GRCm39)	K443E	possibly damaging	Het
Rock2	C	T	12: 17,021,276 (GRCm39)	Q1019*	probably null	Het
Rps18-ps3	T	A	8: 107,989,762 (GRCm39)		noncoding transcript	Het
Sis	T	C	3: 72,835,492 (GRCm39)		probably null	Het
Slc22a21	T	A	11: 53,846,839 (GRCm39)	I345F	probably benign	Het
Sox5	A	G	6: 143,790,491 (GRCm39)	M523T	possibly damaging	Het
Taf1c	T	C	8: 120,326,361 (GRCm39)	K526R	probably benign	Het
Taf2	T	C	15: 54,922,276 (GRCm39)	D337G	possibly damaging	Het
Tbx4	A	G	11: 85,802,948 (GRCm39)	I275V	probably damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Tmem9	A	G	1: 135,955,234 (GRCm39)	T123A	probably benign	Het
Trim69	A	G	2: 122,009,080 (GRCm39)	Y380C	probably damaging	Het
Vldlr	G	T	19: 27,212,219 (GRCm39)	V78L	probably damaging	Het
Vmn1r68	A	T	7: 10,261,275 (GRCm39)	N274K	probably benign	Het
Vmn2r104	G	T	17: 20,262,503 (GRCm39)	S209Y	probably damaging	Het
Vmn2r108	T	A	17: 20,682,990 (GRCm39)	N738I	probably damaging	Het
Wnt3	A	G	11: 103,703,450 (GRCm39)	D311G	probably damaging	Het
Yme1l1	T	C	2: 23,076,344 (GRCm39)		probably null	Het
Zcchc14	C	T	8: 122,378,498 (GRCm39)		probably benign	Het
Zfp148	T	C	16: 33,316,602 (GRCm39)	Y383H	probably damaging	Het
Zfp41	A	G	15: 75,490,368 (GRCm39)	R107G	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
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

Predicted Primers

PCR Primer
(F):5'- TGTGGTTCTCAGAGATCACACC -3'
(R):5'- AATCTAGGTAGTTATCCCTTCTGTC -3'

Sequencing Primer
(F):5'- GATCACACCTCACCATTTATTAGAGG -3'
(R):5'- TCTGATCAGGCAACTAGC -3'

Posted On

2015-07-21