Mutagenetix > Incidental Mutation

Incidental Mutation 'R1688:Adgb'

189502

Institutional Source

Beutler Lab

Gene Symbol

Adgb

Ensembl Gene

ENSMUSG00000050994

Gene Name

androglobin

Synonyms

9130014G24Rik

MMRRC Submission

039721-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1688 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10211447-10348070 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 10226061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 1359 (R1359*)

Ref Sequence

ENSEMBL: ENSMUSP00000146658 (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 null
Transcript: ENSMUST00000172530
AA Change: R1383*

SMART Domains

Protein: ENSMUSP00000134378
Gene: ENSMUSG00000050994
AA Change: R1383*

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: R1386*

SMART Domains

Protein: ENSMUSP00000136386
Gene: ENSMUSG00000050994
AA Change: R1386*

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: R1359*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	C	13: 61,002,695 (GRCm39)	T20A	probably benign	Het
Acaca	T	G	11: 84,129,722 (GRCm39)	V359G	probably damaging	Het
Aggf1	T	C	13: 95,501,275 (GRCm39)	E369G	probably damaging	Het
Alkbh8	T	A	9: 3,382,765 (GRCm39)	D418E	probably damaging	Het
Alox8	T	C	11: 69,080,732 (GRCm39)	D203G	probably benign	Het
Ank	A	G	15: 27,557,320 (GRCm39)	D168G	probably damaging	Het
Ap5m1	A	G	14: 49,318,291 (GRCm39)		probably null	Het
Arhgap45	A	G	10: 79,864,929 (GRCm39)	Y964C	probably damaging	Het
Arhgef2	A	G	3: 88,547,607 (GRCm39)	D571G	probably benign	Het
Bdh2	A	T	3: 135,007,399 (GRCm39)	Y223F	possibly damaging	Het
Bin1	T	C	18: 32,552,988 (GRCm39)		probably benign	Het
Bin1	G	A	18: 32,558,025 (GRCm39)		probably benign	Het
Cacna1g	T	A	11: 94,316,779 (GRCm39)	M1514L	possibly damaging	Het
Cd109	T	A	9: 78,612,373 (GRCm39)	F1253L	probably benign	Het
Cfap57	T	A	4: 118,426,843 (GRCm39)	E1065V	probably null	Het
Chmp2b	T	C	16: 65,347,922 (GRCm39)	N14S	probably benign	Het
Cplane1	T	C	15: 8,258,093 (GRCm39)	V2113A	probably benign	Het
Crybg1	A	T	10: 43,849,794 (GRCm39)	F1660L	probably damaging	Het
Cyp2c37	T	G	19: 39,982,887 (GRCm39)		probably null	Het
Daam1	A	T	12: 71,993,820 (GRCm39)	I408F	unknown	Het
Dsc3	T	A	18: 20,099,284 (GRCm39)	D744V	probably damaging	Het
Eprs1	T	C	1: 185,117,093 (GRCm39)	F379L	probably damaging	Het
Ewsr1	G	T	11: 5,022,870 (GRCm39)	D417E	unknown	Het
Eya4	A	T	10: 22,999,759 (GRCm39)	N424K	probably damaging	Het
Gm9312	A	C	12: 24,301,920 (GRCm39)		noncoding transcript	Het
Havcr2	T	C	11: 46,370,191 (GRCm39)	I206T	probably damaging	Het
Igfbp2	T	C	1: 72,864,125 (GRCm39)		probably null	Het
Ikzf2	T	C	1: 69,581,439 (GRCm39)	K196R	possibly damaging	Het
Il12rb1	G	A	8: 71,272,046 (GRCm39)	G587R	probably damaging	Het
Immt	A	T	6: 71,833,995 (GRCm39)	H208L	probably damaging	Het
Kcnq2	C	T	2: 180,728,826 (GRCm39)	V540I	probably damaging	Het
Klk1b8	T	A	7: 43,595,229 (GRCm39)		probably benign	Het
Mc2r	T	A	18: 68,541,090 (GRCm39)	I68F	possibly damaging	Het
Neil3	T	C	8: 54,054,069 (GRCm39)	E320G	probably damaging	Het
Nell2	T	C	15: 95,329,494 (GRCm39)	T276A	probably damaging	Het
Nphp3	T	C	9: 103,880,323 (GRCm39)	L115P	probably damaging	Het
Nras	T	C	3: 102,967,689 (GRCm39)	L95P	probably benign	Het
Ogt	G	A	X: 100,699,296 (GRCm39)	V190I	probably damaging	Het
Or11h6	A	T	14: 50,880,705 (GRCm39)	K322N	probably benign	Het
Or5t17	A	G	2: 86,832,730 (GRCm39)	Y139C	probably benign	Het
P2ry6	T	A	7: 100,587,591 (GRCm39)	H256L	probably damaging	Het
Pcbp4	T	C	9: 106,338,533 (GRCm39)	S153P	probably damaging	Het
Pclo	T	C	5: 14,838,507 (GRCm39)		probably null	Het
Per2	A	G	1: 91,351,551 (GRCm39)	L985P	probably damaging	Het
Pgap6	C	T	17: 26,337,882 (GRCm39)	A422V	possibly damaging	Het
Phip	T	C	9: 82,753,710 (GRCm39)	N1678S	probably benign	Het
Pkd1l3	A	G	8: 110,350,450 (GRCm39)	S432G	probably benign	Het
Plin4	T	A	17: 56,416,363 (GRCm39)	D47V	possibly damaging	Het
Ppp2cb	A	G	8: 34,105,480 (GRCm39)	I163M	probably benign	Het
Ptpdc1	T	C	13: 48,739,700 (GRCm39)	E577G	probably benign	Het
Ptprd	G	T	4: 75,900,921 (GRCm39)	P1063T	probably damaging	Het
Ptpru	T	C	4: 131,514,656 (GRCm39)	D866G	probably benign	Het
Rdx	T	C	9: 51,972,211 (GRCm39)		probably benign	Het
Rgsl1	C	T	1: 153,680,422 (GRCm39)	R760H	probably damaging	Het
Rhno1	A	G	6: 128,334,897 (GRCm39)	V142A	probably benign	Het
Sema5a	C	T	15: 32,669,570 (GRCm39)	T698I	probably benign	Het
Serpina3a	A	T	12: 104,084,902 (GRCm39)	D99V	probably benign	Het
Slc22a3	A	T	17: 12,652,694 (GRCm39)	M350K	probably damaging	Het
Spata31d1b	T	A	13: 59,863,274 (GRCm39)	S141T	possibly damaging	Het
Tada2a	T	C	11: 83,975,585 (GRCm39)		probably null	Het
Tspan10	A	G	11: 120,333,608 (GRCm39)	M2V	probably damaging	Het
Ttll11	T	C	2: 35,685,391 (GRCm39)	T566A	probably damaging	Het
Vwa8	A	G	14: 79,438,543 (GRCm39)	Q1872R	possibly damaging	Het
Zfp605	T	A	5: 110,276,907 (GRCm39)	I675N	possibly damaging	Het
Zkscan8	A	T	13: 21,704,324 (GRCm39)	N538K	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
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
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'- CCGTGTGAATCCAGACTTCATGGC -3'
(R):5'- TTCAGTGCTCAGCACCCAACGTAG -3'

Sequencing Primer
(F):5'- GTCATAGTTTGGACACATGAGCAC -3'
(R):5'- CAGTGAAATCTCAGTTTAGGGAGTC -3'

Posted On

2014-05-14