Mutagenetix > Incidental Mutation

Incidental Mutation 'R8158:Adgb'

633376

Institutional Source

Beutler Lab

Gene Symbol

Adgb

Ensembl Gene

ENSMUSG00000050994

Gene Name

androglobin

Synonyms

9130014G24Rik

MMRRC Submission

067584-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8158 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10211447-10348070 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 10254478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 1162 (V1162M)

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: V1160M

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000134378
Gene: ENSMUSG00000050994
AA Change: V1160M

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: V1162M

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000136386
Gene: ENSMUSG00000050994
AA Change: V1162M

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: V1136M

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	A	1: 156,469,639 (GRCm39)	S968T	probably benign	Het
Adcy8	T	C	15: 64,655,655 (GRCm39)	D608G	probably benign	Het
Agrn	A	G	4: 156,258,346 (GRCm39)	V1040A	probably benign	Het
Amer3	A	T	1: 34,626,741 (GRCm39)	T327S	possibly damaging	Het
Apaf1	C	T	10: 90,895,520 (GRCm39)	C426Y	probably benign	Het
Bsn	T	C	9: 107,987,232 (GRCm39)	D2840G	unknown	Het
Camsap1	A	T	2: 25,834,440 (GRCm39)	C406*	probably null	Het
Cbr2	A	T	11: 120,621,123 (GRCm39)	M158K	probably damaging	Het
Cgrrf1	T	C	14: 47,091,192 (GRCm39)	S239P	probably benign	Het
Clnk	C	A	5: 38,952,254 (GRCm39)		probably null	Het
Csad	T	C	15: 102,086,197 (GRCm39)	M445V	probably damaging	Het
Dnajb7	T	A	15: 81,291,600 (GRCm39)	N246Y	probably damaging	Het
Dok6	T	C	18: 89,492,071 (GRCm39)	I169V	probably benign	Het
H2bc14	T	C	13: 21,906,631 (GRCm39)	Y122H	probably benign	Het
Il1f10	T	G	2: 24,181,267 (GRCm39)	I11R	possibly damaging	Het
Irs1	C	T	1: 82,267,254 (GRCm39)	V321M	probably damaging	Het
Itga9	T	C	9: 118,706,211 (GRCm39)	F938L	probably damaging	Het
Kif7	T	C	7: 79,354,442 (GRCm39)	D781G	probably damaging	Het
Klhl41	A	T	2: 69,501,505 (GRCm39)	N322I	probably damaging	Het
Krtap31-1	T	G	11: 99,798,901 (GRCm39)	C35G	possibly damaging	Het
Lsm11	A	T	11: 45,824,824 (GRCm39)	D234E	probably benign	Het
Med6	T	C	12: 81,620,677 (GRCm39)	K223R	probably benign	Het
Mfsd4b2	G	A	10: 39,798,064 (GRCm39)	T97I	probably benign	Het
Mrgpra1	A	T	7: 46,985,204 (GRCm39)	C158*	probably null	Het
Nr2e1	T	C	10: 42,458,881 (GRCm39)	T8A	probably benign	Het
Oas2	T	C	5: 120,887,838 (GRCm39)	M1V	probably null	Het
Or13a27	T	C	7: 139,925,162 (GRCm39)	I247V	probably benign	Het
Or14a260	T	A	7: 85,984,885 (GRCm39)	I240F	probably benign	Het
Or1e33	T	A	11: 73,738,697 (GRCm39)	M85L	probably benign	Het
Or8k17	T	C	2: 86,066,504 (GRCm39)	Y218C	probably damaging	Het
Or8w1	T	A	2: 87,465,233 (GRCm39)	N286I	probably damaging	Het
Otof	C	T	5: 30,537,538 (GRCm39)	G1257D	probably benign	Het
Phf2	T	C	13: 48,971,236 (GRCm39)	T479A	probably benign	Het
Pik3c2a	T	C	7: 115,942,232 (GRCm39)	N1516S	probably benign	Het
Qrich1	C	A	9: 108,433,236 (GRCm39)	T622K	probably damaging	Het
Rasip1	A	G	7: 45,281,943 (GRCm39)	K482R	probably damaging	Het
Rgl2	T	C	17: 34,155,918 (GRCm39)	F698L	probably benign	Het
Scarb1	T	C	5: 125,380,201 (GRCm39)	D124G	probably benign	Het
Sclt1	A	G	3: 41,625,917 (GRCm39)	I350T	probably benign	Het
Sec23ip	T	G	7: 128,369,364 (GRCm39)	V696G	probably damaging	Het
Serpina1e	G	T	12: 103,917,354 (GRCm39)	T105K	probably benign	Het
Sin3a	A	G	9: 57,020,828 (GRCm39)		probably null	Het
Slc34a2	A	G	5: 53,218,182 (GRCm39)	T154A	probably damaging	Het
Slc9a3	T	C	13: 74,303,241 (GRCm39)	L178P	probably damaging	Het
Smarca2	A	C	19: 26,659,448 (GRCm39)	I913L	probably benign	Het
Spaca7b	T	A	8: 11,715,056 (GRCm39)	D46V	probably damaging	Het
Tcea3	G	A	4: 136,001,027 (GRCm39)		probably null	Het
Tektl1	G	C	10: 78,584,509 (GRCm39)	Q338E	probably benign	Het
Tmcc1	T	A	6: 116,020,435 (GRCm39)	H339L		Het
Trpm2	G	T	10: 77,783,731 (GRCm39)	H247Q	probably damaging	Het
Tyr	T	A	7: 87,121,724 (GRCm39)	D356V	probably damaging	Het
Vmn2r54	A	T	7: 12,349,888 (GRCm39)	C565S	probably damaging	Het
Vmn2r82	A	C	10: 79,213,636 (GRCm39)	N74T	probably benign	Het
Zcchc4	T	C	5: 52,973,260 (GRCm39)	Y375H	probably damaging	Het
Zfhx3	T	A	8: 109,675,353 (GRCm39)	D2134E	possibly damaging	Het
Zfhx4	T	A	3: 5,464,010 (GRCm39)	Y1414*	probably null	Het
Zfp282	A	T	6: 47,867,626 (GRCm39)	E267D	possibly damaging	Het
Zfp442	A	T	2: 150,251,096 (GRCm39)	C269S	possibly damaging	Het
Zp3	T	A	5: 136,014,418 (GRCm39)	S246T	probably benign	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
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
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'- CGTCAGTCATTGGAGTTGGC -3'
(R):5'- GAACAGTCACCACAGTTTCTATGC -3'

Sequencing Primer
(F):5'- CCCAGTGTTTGTCAAGTGTCGAC -3'
(R):5'- CCACAGTTTCTATGCTGACTTAAGGG -3'

Posted On

2020-06-30