Mutagenetix > Incidental Mutation

Incidental Mutation 'R4858:Adgb'

372241

Institutional Source

Beutler Lab

Gene Symbol

Adgb

Ensembl Gene

ENSMUSG00000050994

Gene Name

androglobin

Synonyms

9130014G24Rik

MMRRC Submission

042469-MU

Accession Numbers

MGI:3605549

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4858 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10335703-10472326 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10349577 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1415 (Y1415C)

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 damaging
Transcript: ENSMUST00000172530
AA Change: Y1412C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134378
Gene: ENSMUSG00000050994
AA Change: Y1412C

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 damaging
Transcript: ENSMUST00000179956
AA Change: Y1415C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136386
Gene: ENSMUSG00000050994
AA Change: Y1415C

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: Y1388C

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

Meta Mutation Damage Score

0.2224

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

94% (103/109)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	T	C	17: 43,303,672	S216P	probably damaging	Het
Ankrd12	T	C	17: 66,031,433	D197G	probably damaging	Het
Aoc3	C	A	11: 101,331,662	H198Q	probably damaging	Het
Aox1	C	A	1: 58,104,481	H1253N	probably benign	Het
Arg1	T	A	10: 24,922,638	E38V	possibly damaging	Het
Baz2b	T	A	2: 59,907,743	M1741L	probably benign	Het
Bend4	T	C	5: 67,417,572	E322G	probably damaging	Het
Brpf1	T	C	6: 113,317,678	V661A	possibly damaging	Het
C2cd3	A	T	7: 100,454,953	T2058S	probably damaging	Het
Camk4	T	C	18: 33,176,213	V223A	probably damaging	Het
Casp1	C	T	9: 5,306,742	R395C	probably damaging	Het
Ccdc180	T	G	4: 45,923,244	I1066S	probably damaging	Het
Ccne1	A	G	7: 38,099,319	F292L	probably damaging	Het
Ccz1	A	T	5: 144,012,810	M100K	probably damaging	Het
Cep128	T	C	12: 91,260,162	T678A	probably benign	Het
Cep290	G	A	10: 100,494,911	R151Q	probably benign	Het
Crip3	A	G	17: 46,430,747		probably benign	Het
Ddx60	A	G	8: 62,021,314	M1479V	possibly damaging	Het
Defb40	T	A	8: 18,975,077	I38F	probably benign	Het
Diexf	A	G	1: 193,113,764	Y686H	probably damaging	Het
Dnajb2	C	T	1: 75,243,554	T221I	possibly damaging	Het
Dpcr1	G	A	17: 35,637,576	T377I	possibly damaging	Het
Dpysl3	T	C	18: 43,334,014	I279V	probably damaging	Het
Echs1	G	A	7: 140,112,586		probably benign	Het
Efl1	T	A	7: 82,671,627	N89K	probably damaging	Het
Extl3	T	C	14: 65,075,994	T580A	probably benign	Het
Fam171a2	C	T	11: 102,440,156	G193E	probably damaging	Het
Fam234a	A	T	17: 26,216,617	D264E	probably benign	Het
Fbxw20	A	T	9: 109,234,695	V3D	possibly damaging	Het
Fig4	G	A	10: 41,233,590	P637L	probably benign	Het
Fnbp1l	G	A	3: 122,546,315	T496I	probably benign	Het
Fry	T	C	5: 150,401,643	V1175A	possibly damaging	Het
Gm5617	C	T	9: 48,495,668	A34V	possibly damaging	Het
Gnai1	A	T	5: 18,291,598	V109E	probably benign	Het
H2-K1	A	T	17: 33,997,324	Y283N	probably benign	Het
Hectd2	A	T	19: 36,605,282	I471F	probably damaging	Het
Hsdl2	T	C	4: 59,612,812		probably null	Het
Igkv3-1	T	C	6: 70,704,044	S76P	probably damaging	Het
Krt15	A	T	11: 100,132,071	S439R	probably benign	Het
Lama2	TTTGCGCATT	TTT	10: 27,043,643		probably null	Het
Lima1	G	A	15: 99,819,576	T23I	probably benign	Het
Map4k1	C	A	7: 28,988,770	H248Q	probably damaging	Het
Mcf2l	C	A	8: 13,013,972	T1004K	probably damaging	Het
Micall1	T	A	15: 79,122,946		probably benign	Het
Ms4a14	A	G	19: 11,301,612	I1194T	probably benign	Het
Mtor	T	C	4: 148,454,816	*257Q	probably null	Het
Ncan	T	A	8: 70,104,055	T961S	probably benign	Het
Olfr1100	T	G	2: 86,978,349	Y149S	probably damaging	Het
Olfr161	T	C	16: 3,592,842	S149P	probably damaging	Het
Olfr311	T	A	11: 58,841,207	L31H	possibly damaging	Het
Olfr331	T	A	11: 58,501,909	I216F	probably damaging	Het
Olfr389	T	A	11: 73,776,546	L260F	probably benign	Het
Olfr419	A	T	1: 174,250,696	I77N	probably damaging	Het
Pcdhgb2	A	G	18: 37,692,100	R715G	probably benign	Het
Pik3c3	T	C	18: 30,344,078		probably null	Het
Pkhd1l1	A	T	15: 44,491,101	D296V	probably damaging	Het
Plekhh2	A	G	17: 84,600,697	I1189V	probably damaging	Het
Psg18	A	T	7: 18,353,484	L83Q	possibly damaging	Het
Rps6kc1	A	G	1: 190,800,318	W496R	probably damaging	Het
Setd5	C	T	6: 113,149,566	T1188I	probably damaging	Het
Slc4a3	T	C	1: 75,555,085	F899L	probably damaging	Het
Slitrk6	T	C	14: 110,751,883	T131A	probably damaging	Het
Speg	G	T	1: 75,421,735	R1942L	probably damaging	Het
Sulf2	C	A	2: 166,081,604	R565L	probably benign	Het
Tcerg1	T	C	18: 42,523,981	M176T	unknown	Het
Tfcp2l1	T	C	1: 118,669,509	I440T	possibly damaging	Het
Tgm7	A	T	2: 121,098,964		probably null	Het
Tjp2	C	A	19: 24,122,120	G433V	probably damaging	Het
Tldc1	T	G	8: 119,772,523	T77P	probably benign	Het
Tmc7	C	T	7: 118,543,342	G608R	probably damaging	Het
Tmed4	A	G	11: 6,274,456	F68S	possibly damaging	Het
Tmem30b	G	A	12: 73,545,912	P143L	probably damaging	Het
Tnfrsf23	C	T	7: 143,681,480	C49Y	probably damaging	Het
Tnni3k	A	T	3: 154,786,808		probably null	Het
Trav12-2	G	T	14: 53,616,693	M41I	probably benign	Het
Trim6	T	A	7: 104,232,485	Y314*	probably null	Het
Ttc25	A	G	11: 100,550,321	N126S	probably damaging	Het
Vmn2r118	A	G	17: 55,592,894	V670A	probably damaging	Het
Zfp438	A	T	18: 5,213,154	D601E	probably benign	Het
Zfp606	T	A	7: 12,493,056	I310N	possibly damaging	Het

Other mutations in Adgb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Adgb	APN	10	10406099	missense	possibly damaging	0.87
IGL01083:Adgb	APN	10	10407554	missense	possibly damaging	0.50
IGL03064:Adgb	APN	10	10400572	missense	probably benign	0.02
R0080:Adgb	UTSW	10	10377839	splice site	probably benign
R0084:Adgb	UTSW	10	10396344	missense	possibly damaging	0.74
R0112:Adgb	UTSW	10	10407158	splice site	probably benign
R0348:Adgb	UTSW	10	10357879	missense	probably benign
R0415:Adgb	UTSW	10	10431067	splice site	probably null
R0633:Adgb	UTSW	10	10391729	missense	probably benign	0.36
R1052:Adgb	UTSW	10	10442613	missense	probably benign	0.29
R1248:Adgb	UTSW	10	10395310	missense	probably damaging	0.98
R1278:Adgb	UTSW	10	10382828	missense	probably damaging	1.00
R1568:Adgb	UTSW	10	10442665	nonsense	probably null
R1647:Adgb	UTSW	10	10395371	missense	probably damaging	1.00
R1648:Adgb	UTSW	10	10395371	missense	probably damaging	1.00
R1663:Adgb	UTSW	10	10339675	missense	possibly damaging	0.86
R1688:Adgb	UTSW	10	10350317	nonsense	probably null
R1758:Adgb	UTSW	10	10426605	missense	probably damaging	1.00
R1772:Adgb	UTSW	10	10382721	splice site	probably benign
R1850:Adgb	UTSW	10	10442502	missense	probably damaging	1.00
R1959:Adgb	UTSW	10	10395249	missense	probably benign	0.02
R1980:Adgb	UTSW	10	10433498	missense	probably benign
R2179:Adgb	UTSW	10	10395274	missense	possibly damaging	0.94
R2229:Adgb	UTSW	10	10436051	missense	probably damaging	1.00
R2283:Adgb	UTSW	10	10377891	missense	probably damaging	0.99
R2870:Adgb	UTSW	10	10431281	critical splice donor site	probably null
R2870:Adgb	UTSW	10	10431281	critical splice donor site	probably null
R2875:Adgb	UTSW	10	10422719	missense	probably damaging	1.00
R2876:Adgb	UTSW	10	10422719	missense	probably damaging	1.00
R2920:Adgb	UTSW	10	10390243	missense	probably damaging	1.00
R2931:Adgb	UTSW	10	10442502	missense	possibly damaging	0.84
R3722:Adgb	UTSW	10	10340510	missense	probably benign	0.32
R3846:Adgb	UTSW	10	10382721	splice site	probably benign
R3877:Adgb	UTSW	10	10442483	critical splice donor site	probably null
R4210:Adgb	UTSW	10	10407465	missense	probably benign	0.06
R4211:Adgb	UTSW	10	10407465	missense	probably benign	0.06
R4333:Adgb	UTSW	10	10442502	missense	possibly damaging	0.84
R4448:Adgb	UTSW	10	10390825	missense	probably benign	0.32
R4470:Adgb	UTSW	10	10398951	missense	probably benign	0.02
R4624:Adgb	UTSW	10	10403004	missense	probably benign	0.00
R4656:Adgb	UTSW	10	10405306	missense	probably damaging	0.99
R4676:Adgb	UTSW	10	10426710	missense	probably damaging	1.00
R4792:Adgb	UTSW	10	10398903	missense	probably damaging	0.96
R4795:Adgb	UTSW	10	10357872	missense	probably benign	0.01
R4985:Adgb	UTSW	10	10400632	missense	possibly damaging	0.69
R5057:Adgb	UTSW	10	10357978	missense	probably benign	0.11
R5157:Adgb	UTSW	10	10398966	missense	probably damaging	1.00
R5209:Adgb	UTSW	10	10398937	missense	possibly damaging	0.71
R5339:Adgb	UTSW	10	10442606	missense	probably damaging	1.00
R5376:Adgb	UTSW	10	10346563	missense	probably benign	0.09
R5426:Adgb	UTSW	10	10350260	missense	probably benign	0.14
R5516:Adgb	UTSW	10	10431157	missense	probably damaging	1.00
R5554:Adgb	UTSW	10	10340473	missense	probably damaging	0.98
R5678:Adgb	UTSW	10	10431326	missense	possibly damaging	0.83
R5707:Adgb	UTSW	10	10391757	missense	probably damaging	1.00
R5708:Adgb	UTSW	10	10391757	missense	probably damaging	1.00
R5891:Adgb	UTSW	10	10377847	nonsense	probably null
R5928:Adgb	UTSW	10	10378787	missense	probably damaging	1.00
R6005:Adgb	UTSW	10	10395352	missense	probably damaging	1.00
R6017:Adgb	UTSW	10	10450036	missense	probably damaging	1.00
R6049:Adgb	UTSW	10	10378026	missense	probably damaging	1.00
R6118:Adgb	UTSW	10	10431291	missense	probably damaging	1.00
R6175:Adgb	UTSW	10	10398943	missense	possibly damaging	0.94
R6186:Adgb	UTSW	10	10422758	missense	probably damaging	1.00
R6234:Adgb	UTSW	10	10353080	splice site	probably null
R6383:Adgb	UTSW	10	10450028	missense	probably damaging	1.00
R6522:Adgb	UTSW	10	10377892	nonsense	probably null
R6639:Adgb	UTSW	10	10435956	missense	possibly damaging	0.51
R6697:Adgb	UTSW	10	10406126	nonsense	probably null
R6742:Adgb	UTSW	10	10411849	missense	probably damaging	1.00
R6745:Adgb	UTSW	10	10390197	missense	probably damaging	1.00
R6850:Adgb	UTSW	10	10394574	missense	probably benign	0.39
R7128:Adgb	UTSW	10	10472241	missense	probably benign	0.26
R7326:Adgb	UTSW	10	10400574	missense	possibly damaging	0.80
R7386:Adgb	UTSW	10	10377949	missense	possibly damaging	0.52
R7431:Adgb	UTSW	10	10391955	splice site	probably null
R7569:Adgb	UTSW	10	10431252	missense	probably benign
R7579:Adgb	UTSW	10	10410818	nonsense	probably null
R7582:Adgb	UTSW	10	10390821	missense	probably damaging	1.00
R7615:Adgb	UTSW	10	10436010	missense	probably damaging	0.96
R7692:Adgb	UTSW	10	10411712	critical splice donor site	probably null
R7774:Adgb	UTSW	10	10339660	nonsense	probably null
R7808:Adgb	UTSW	10	10378659	splice site	probably null
R8158:Adgb	UTSW	10	10378734	missense	probably benign	0.22
R8386:Adgb	UTSW	10	10350304	missense	probably damaging	1.00
R8746:Adgb	UTSW	10	10405284	critical splice donor site	probably null
R8785:Adgb	UTSW	10	10357966	missense	probably damaging	1.00
R9089:Adgb	UTSW	10	10442688	missense	probably benign	0.26
R9140:Adgb	UTSW	10	10340519	nonsense	probably null
R9386:Adgb	UTSW	10	10398964	missense	probably benign	0.00
R9777:Adgb	UTSW	10	10407470	missense	possibly damaging	0.74
X0003:Adgb	UTSW	10	10394630	missense	possibly damaging	0.76
Z1176:Adgb	UTSW	10	10378742	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- TGTCCTCATTTGAAGCCTCATGG -3'
(R):5'- AGTTGGCTCGGTCTAAACTAC -3'

Sequencing Primer
(F):5'- CATGGTCTTTCACAATCCTAAGGAC -3'
(R):5'- GGCTCGGTCTAAACTACCCTTC -3'

Posted On

2016-03-01