Mutagenetix > Incidental Mutation

Incidental Mutation 'R5339:Adgb'

423703

Institutional Source

Beutler Lab

Gene Symbol

Adgb

Ensembl Gene

ENSMUSG00000050994

Gene Name

androglobin

Synonyms

9130014G24Rik

MMRRC Submission

042918-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5339 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10211447-10348070 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 10318350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 158 (G158E)

Ref Sequence

ENSEMBL: ENSMUSP00000146658 (fasta)

Gene Model

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

AlphaFold

G3UZ78

Predicted Effect

probably benign
Transcript: ENSMUST00000132573
AA Change: G164E

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000120422
Gene: ENSMUSG00000050994
AA Change: G164E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000172530
AA Change: G164E

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

SMART Domains

Protein: ENSMUSP00000134378
Gene: ENSMUSG00000050994
AA Change: G164E

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: G164E

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

SMART Domains

Protein: ENSMUSP00000136386
Gene: ENSMUSG00000050994
AA Change: G164E

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: G158E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.1322

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (57/59)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	C	T	3: 148,523,480 (GRCm39)	R1256H	probably benign	Het
C3	C	A	17: 57,531,308 (GRCm39)	V329F	probably damaging	Het
Ccdc50	C	T	16: 27,236,055 (GRCm39)	H130Y	probably damaging	Het
Chrna7	A	G	7: 62,749,055 (GRCm39)	S476P	probably damaging	Het
Crtc1	A	T	8: 70,850,383 (GRCm39)		probably benign	Het
Dnah12	A	G	14: 26,536,494 (GRCm39)	T2137A	possibly damaging	Het
Ehd3	G	A	17: 74,135,202 (GRCm39)	M359I	possibly damaging	Het
Fastkd3	G	A	13: 68,738,283 (GRCm39)	G611R	probably damaging	Het
Foxa2	T	A	2: 147,886,354 (GRCm39)	S154C	probably damaging	Het
Gfm2	T	C	13: 97,311,548 (GRCm39)	I733T	probably benign	Het
Gm1968	T	C	16: 29,781,077 (GRCm39)		noncoding transcript	Het
Gmfg-ps	T	C	6: 4,893,401 (GRCm39)		noncoding transcript	Het
Gzmd	A	T	14: 56,368,140 (GRCm39)	N106K	possibly damaging	Het
Huwe1	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	X: 150,690,044 (GRCm39)		probably benign	Het
Ipo5	T	C	14: 121,181,122 (GRCm39)	W883R	probably damaging	Het
Itpr1	T	A	6: 108,370,922 (GRCm39)	V1063D	probably damaging	Het
Kansl3	A	C	1: 36,406,802 (GRCm39)		probably benign	Het
Klkb1	C	A	8: 45,723,748 (GRCm39)	V556F	possibly damaging	Het
Krtap14	C	A	16: 88,622,747 (GRCm39)	R77S	probably benign	Het
Leng8	T	A	7: 4,148,285 (GRCm39)	Y686N	possibly damaging	Het
Mctp1	C	A	13: 76,973,825 (GRCm39)		probably benign	Het
Moxd2	T	C	6: 40,862,354 (GRCm39)	Y155C	probably damaging	Het
Ofcc1	A	G	13: 40,241,321 (GRCm39)	V729A	probably benign	Het
Or2w6	G	A	13: 21,843,404 (GRCm39)	L30F	probably benign	Het
Or4k1	C	A	14: 50,377,759 (GRCm39)	M112I	probably damaging	Het
Or7g27	G	A	9: 19,250,455 (GRCm39)	G233E	possibly damaging	Het
Or8g30	A	T	9: 39,230,599 (GRCm39)	F104I	possibly damaging	Het
Or8g37	T	A	9: 39,731,229 (GRCm39)	M98K	probably damaging	Het
Pdia4	C	T	6: 47,773,619 (GRCm39)	A577T	possibly damaging	Het
Pex5	A	T	6: 124,374,963 (GRCm39)	S629T	probably benign	Het
Pnpla7	T	C	2: 24,892,949 (GRCm39)	S146P	probably benign	Het
Prune2	G	A	19: 17,098,236 (GRCm39)	E1247K	probably damaging	Het
Reg3a	A	G	6: 78,360,522 (GRCm39)		probably null	Het
Snx8	G	A	5: 140,343,905 (GRCm39)	R78C	probably damaging	Het
Sstr5	T	C	17: 25,710,173 (GRCm39)	E352G	probably benign	Het
Svep1	T	C	4: 58,121,892 (GRCm39)	Y767C	possibly damaging	Het
Tbx15	G	A	3: 99,223,600 (GRCm39)	V263M	possibly damaging	Het
Tdrd9	T	C	12: 111,993,556 (GRCm39)	Y695H	probably damaging	Het
Tep1	A	T	14: 51,082,031 (GRCm39)	L1174Q	probably damaging	Het
Tg	T	A	15: 66,549,942 (GRCm39)	Y235N	probably damaging	Het
Tha1	C	A	11: 117,761,908 (GRCm39)	R111L	possibly damaging	Het
Trim17	C	T	11: 58,845,336 (GRCm39)		probably null	Het
Trim72	A	G	7: 127,609,505 (GRCm39)	T436A	probably benign	Het
Uba7	C	T	9: 107,856,065 (GRCm39)	A480V	probably damaging	Het
Ublcp1	A	T	11: 44,346,435 (GRCm39)	S313T	probably benign	Het
Ubqlnl	A	G	7: 103,798,972 (GRCm39)	V175A	probably benign	Het
Vps26a	A	G	10: 62,294,746 (GRCm39)	L276P	probably damaging	Het
Zdhhc21	C	T	4: 82,756,550 (GRCm39)	G110S	probably damaging	Het
Zfp236	T	C	18: 82,642,491 (GRCm39)	E1133G	probably damaging	Het
Zfp800	A	T	6: 28,256,472 (GRCm39)	S39T	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
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'- CGGGCTTCTTTTATACGAAGGG -3'
(R):5'- ACTCTGCTAACTCAAAGTCAGTATC -3'

Sequencing Primer
(F):5'- GGGTAAATGAATCCCAATGCC -3'
(R):5'- GCTAACTCAAAGTCAGTATCAAGTC -3'

Posted On

2016-08-04