Mutagenetix > Incidental Mutation

Incidental Mutation 'R7386:Adgb'

573103

Institutional Source

Beutler Lab

Gene Symbol

Adgb

Ensembl Gene

ENSMUSG00000050994

Gene Name

androglobin

Synonyms

9130014G24Rik

MMRRC Submission

045468-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7386 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10211447-10348070 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10253693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 1216 (F1216I)

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 benign
Transcript: ENSMUST00000172530
AA Change: F1214I

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

SMART Domains

Protein: ENSMUSP00000134378
Gene: ENSMUSG00000050994
AA Change: F1214I

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

possibly damaging
Transcript: ENSMUST00000179956
AA Change: F1216I

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000136386
Gene: ENSMUSG00000050994
AA Change: F1216I

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: F1190I

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	A	T	18: 69,083,208 (GRCm39)	M2K	unknown	Het
Ablim3	T	C	18: 61,955,065 (GRCm39)	D308G	probably damaging	Het
Adamts17	A	T	7: 66,618,597 (GRCm39)	K370N	probably benign	Het
Adcy4	T	C	14: 56,015,784 (GRCm39)	Y435C	probably damaging	Het
Akr1a1	G	A	4: 116,498,251 (GRCm39)	T98I	probably damaging	Het
Alyref2	G	T	1: 171,331,101 (GRCm39)		probably benign	Het
Ank3	T	A	10: 69,658,079 (GRCm39)	H168Q	unknown	Het
Bnc1	A	C	7: 81,624,240 (GRCm39)	L329R	possibly damaging	Het
Btaf1	G	A	19: 36,935,782 (GRCm39)	A191T	probably benign	Het
Carmil3	T	G	14: 55,735,204 (GRCm39)		probably null	Het
Cd200r1	C	A	16: 44,610,211 (GRCm39)	D143E	probably benign	Het
Cep112	A	G	11: 108,699,507 (GRCm39)	H98R	probably benign	Het
Cmya5	T	A	13: 93,205,831 (GRCm39)	Q3346L	probably damaging	Het
Cpne4	T	A	9: 104,749,939 (GRCm39)	V81E	possibly damaging	Het
Ctnnd2	T	A	15: 30,966,914 (GRCm39)	M955K	probably damaging	Het
Ctsj	A	T	13: 61,148,373 (GRCm39)	M307K	possibly damaging	Het
Ddhd2	G	T	8: 26,244,318 (GRCm39)	R103S	possibly damaging	Het
Depdc5	A	G	5: 33,085,280 (GRCm39)	T700A	probably benign	Het
Dhx57	A	C	17: 80,575,006 (GRCm39)	D657E	possibly damaging	Het
Dmbt1	G	A	7: 130,713,965 (GRCm39)	G1678S	unknown	Het
Dnajb1	A	G	8: 84,336,932 (GRCm39)	D234G	probably benign	Het
Dsc2	C	T	18: 20,174,983 (GRCm39)	V431M	possibly damaging	Het
Evi5	C	A	5: 107,957,689 (GRCm39)		probably null	Het
Exoc2	T	C	13: 31,090,646 (GRCm39)		probably null	Het
Foxo3	T	C	10: 42,073,356 (GRCm39)	D387G	probably benign	Het
Gda	A	G	19: 21,387,250 (GRCm39)	I325T	probably benign	Het
Iqgap1	A	G	7: 80,375,790 (GRCm39)	S1362P	probably damaging	Het
Klf10	G	T	15: 38,297,193 (GRCm39)	N282K	possibly damaging	Het
Mettl13	A	G	1: 162,375,723 (GRCm39)	Y35H	probably damaging	Het
Mill2	A	G	7: 18,592,215 (GRCm39)	T279A	probably benign	Het
Ncaph2	G	A	15: 89,254,459 (GRCm39)	W386*	probably null	Het
Nploc4	A	T	11: 120,299,707 (GRCm39)	S338T	probably benign	Het
Nrip1	T	C	16: 76,090,775 (GRCm39)	S261G	probably damaging	Het
Or2y16	T	C	11: 49,335,227 (GRCm39)	F183S	possibly damaging	Het
Or5al1	A	G	2: 85,989,874 (GRCm39)	V280A	possibly damaging	Het
Or7a38	T	A	10: 78,752,677 (GRCm39)	M1K	probably null	Het
Palld	A	G	8: 61,985,086 (GRCm39)	F1060L	unknown	Het
Pfas	C	G	11: 68,894,600 (GRCm39)	V22L	probably benign	Het
Pygo2	T	G	3: 89,340,128 (GRCm39)	F175L	probably benign	Het
Rnf2	T	C	1: 151,347,131 (GRCm39)	E316G	probably damaging	Het
Rtn4	T	A	11: 29,657,772 (GRCm39)	M642K	probably damaging	Het
Saa3	A	G	7: 46,364,347 (GRCm39)	C60R	unknown	Het
Saxo5	A	G	8: 3,537,079 (GRCm39)	K475R	probably benign	Het
Scap	A	G	9: 110,202,237 (GRCm39)	T202A	probably benign	Het
Scn9a	T	A	2: 66,370,894 (GRCm39)	D562V	probably damaging	Het
Slc6a19	A	T	13: 73,838,010 (GRCm39)	V163E	possibly damaging	Het
Smc5	G	A	19: 23,192,539 (GRCm39)	H850Y	possibly damaging	Het
Spef1l	A	T	7: 139,555,965 (GRCm39)	C225*	probably null	Het
Sqle	G	A	15: 59,202,603 (GRCm39)	R519Q	probably benign	Het
Sulf1	T	C	1: 12,908,585 (GRCm39)	Y533H	probably benign	Het
Thbs2	A	G	17: 14,893,412 (GRCm39)	S923P	possibly damaging	Het
Themis	A	G	10: 28,665,743 (GRCm39)	D602G	probably benign	Het
Tmem132c	A	G	5: 127,640,990 (GRCm39)	K1054E	probably benign	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tnrc6c	T	A	11: 117,612,780 (GRCm39)	C313S	probably benign	Het
Top6bl	G	A	19: 4,713,586 (GRCm39)	R285*	probably null	Het
Tpm1	T	C	9: 66,935,449 (GRCm39)	I284M	probably benign	Het
Trpm4	A	T	7: 44,964,064 (GRCm39)	L722H	possibly damaging	Het
Trub2	T	G	2: 29,676,607 (GRCm39)	Q41P	probably benign	Het
Usp17le	A	C	7: 104,417,514 (GRCm39)		probably null	Het
Zfp398	G	A	6: 47,835,884 (GRCm39)	V148I	probably benign	Het
Zfp40	T	C	17: 23,395,981 (GRCm39)	E202G	probably damaging	Het
Zfp618	T	A	4: 63,013,622 (GRCm39)		probably null	Het
Zfp667	T	A	7: 6,308,949 (GRCm39)	I539N	possibly damaging	Het
Zfp738	A	T	13: 67,818,369 (GRCm39)	C541S	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
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
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'- TGTGAATACAGGGCACTAGGGT -3'
(R):5'- CGAGATCCTGCTTTTATTCTTTAAGA -3'

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

Posted On

2019-09-13