Mutagenetix > Incidental Mutation

Incidental Mutation 'R1319:Adam28'

157644

Institutional Source

Beutler Lab

Gene Symbol

Adam28

Ensembl Gene

ENSMUSG00000014725

Gene Name

a disintegrin and metallopeptidase domain 28

Synonyms

MDC-L, D430033C21Rik, Dtgn1, C130072N01Rik

MMRRC Submission

039385-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

R1319 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68843476-68893291 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68846578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 745 (E745G)

Ref Sequence

ENSEMBL: ENSMUSP00000153354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022642] [ENSMUST00000111072] [ENSMUST00000224039]

AlphaFold

Q9JLN6

Predicted Effect

probably benign
Transcript: ENSMUST00000022642
AA Change: E745G

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725
AA Change: E745G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Pep_M12B_propep	31	158	5.5e-34	PFAM
Pfam:Reprolysin_4	205	387	1.5e-14	PFAM
Pfam:Reprolysin_5	205	388	9.7e-19	PFAM
Pfam:Reprolysin	206	402	5.6e-70	PFAM
Pfam:Reprolysin_2	226	392	1e-16	PFAM
Pfam:Reprolysin_3	230	353	1.2e-21	PFAM
DISIN	419	494	2.1e-36	SMART
ACR	495	623	1.84e-52	SMART
EGF	631	660	3.01e0	SMART
transmembrane domain	667	689	N/A	INTRINSIC
low complexity region	738	753	N/A	INTRINSIC
low complexity region	757	765	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111072
AA Change: E745G

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
AA Change: E745G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Pep_M12B_propep	31	158	5.3e-34	PFAM
Pfam:Reprolysin_4	205	387	1.5e-14	PFAM
Pfam:Reprolysin_5	205	388	9.3e-19	PFAM
Pfam:Reprolysin	206	402	5.3e-70	PFAM
Pfam:Reprolysin_2	226	392	9.9e-17	PFAM
Pfam:Reprolysin_3	230	353	1.1e-21	PFAM
DISIN	419	494	2.1e-36	SMART
ACR	495	623	1.84e-52	SMART
EGF	631	660	3.01e0	SMART
transmembrane domain	667	689	N/A	INTRINSIC
low complexity region	738	753	N/A	INTRINSIC
low complexity region	757	765	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000224039
AA Change: E745G

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230006

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.3%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are typically membrane-anchored, although a form of this protein may be secreted. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a mature protein product. This protein may bind to integrins and regulate lymphocyte migration by enhancing cell adhesion. [provided by RefSeq, Aug 2015]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	G	T	15: 11,286,877 (GRCm39)	K827N	probably benign	Het
Ang2	T	C	14: 51,433,164 (GRCm39)	T73A	probably benign	Het
Bbs10	T	C	10: 111,134,735 (GRCm39)	L51P	probably damaging	Het
Bean1	T	C	8: 104,943,856 (GRCm39)	I137T	probably benign	Het
Cimip1	A	T	2: 173,369,716 (GRCm39)	S77C	probably damaging	Het
Cttnbp2	T	C	6: 18,434,629 (GRCm39)	T410A	probably benign	Het
Cyp4a10	A	C	4: 115,378,342 (GRCm39)	I143L	probably damaging	Het
Dlg2	A	T	7: 92,087,231 (GRCm39)	Q788L	probably damaging	Het
Epha10	G	A	4: 124,775,707 (GRCm39)	V14I	probably benign	Het
Eprs1	G	A	1: 185,117,159 (GRCm39)	D401N	probably damaging	Het
Fam169a	T	C	13: 97,234,070 (GRCm39)	V114A	probably damaging	Het
Fbn2	G	A	18: 58,333,682 (GRCm39)	P178S	possibly damaging	Het
Fcrl2	A	C	3: 87,169,484 (GRCm39)		probably null	Het
Grm1	G	T	10: 10,565,142 (GRCm39)	H1055Q	probably benign	Het
Mcm6	T	C	1: 128,276,789 (GRCm39)	N267S	probably benign	Het
Or5an1c	T	C	19: 12,218,866 (GRCm39)	D53G	probably damaging	Het
Phc3	T	C	3: 30,984,018 (GRCm39)	I699V	probably damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Pyroxd1	T	C	6: 142,304,874 (GRCm39)	V367A	probably benign	Het
R3hdm1	G	A	1: 128,159,142 (GRCm39)	R939H	probably benign	Het
Rag1	A	T	2: 101,473,537 (GRCm39)	I535N	probably damaging	Het
Rhot1	T	C	11: 80,136,847 (GRCm39)	C310R	probably damaging	Het
Tnrc6a	G	A	7: 122,783,474 (GRCm39)	V1481M	probably benign	Het
Vmn1r234	A	T	17: 21,449,172 (GRCm39)	M29L	probably benign	Het
Vmn2r68	A	G	7: 84,881,700 (GRCm39)	I460T	probably damaging	Het
Zfhx3	T	A	8: 109,660,465 (GRCm39)	Y1240N	probably damaging	Het

Other mutations in Adam28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Adam28	APN	14	68,859,569 (GRCm39)	missense	possibly damaging	0.47
IGL00654:Adam28	APN	14	68,886,877 (GRCm39)	missense	probably benign	0.00
IGL01021:Adam28	APN	14	68,879,563 (GRCm39)	missense	probably benign
IGL01099:Adam28	APN	14	68,874,778 (GRCm39)	critical splice donor site	probably null
IGL01349:Adam28	APN	14	68,848,455 (GRCm39)	missense	probably benign	0.01
IGL01744:Adam28	APN	14	68,844,956 (GRCm39)	missense	probably benign	0.07
IGL01805:Adam28	APN	14	68,879,540 (GRCm39)	missense	probably benign	0.09
IGL02007:Adam28	APN	14	68,870,668 (GRCm39)	missense	possibly damaging	0.69
IGL02828:Adam28	APN	14	68,884,319 (GRCm39)	missense	possibly damaging	0.46
IGL03180:Adam28	APN	14	68,874,883 (GRCm39)	missense	probably damaging	1.00
IGL03355:Adam28	APN	14	68,872,252 (GRCm39)	splice site	probably benign
IGL02980:Adam28	UTSW	14	68,857,255 (GRCm39)	missense	probably benign	0.01
PIT4453001:Adam28	UTSW	14	68,872,325 (GRCm39)	missense	probably benign	0.00
R0184:Adam28	UTSW	14	68,874,822 (GRCm39)	missense	probably benign	0.33
R0321:Adam28	UTSW	14	68,855,200 (GRCm39)	missense	probably damaging	0.97
R0329:Adam28	UTSW	14	68,855,188 (GRCm39)	missense	probably damaging	0.96
R0494:Adam28	UTSW	14	68,868,241 (GRCm39)	splice site	probably benign
R0605:Adam28	UTSW	14	68,844,049 (GRCm39)	unclassified	probably benign
R0732:Adam28	UTSW	14	68,874,796 (GRCm39)	missense	probably benign	0.00
R0959:Adam28	UTSW	14	68,845,387 (GRCm39)	missense	possibly damaging	0.93
R1745:Adam28	UTSW	14	68,870,620 (GRCm39)	missense	probably benign	0.04
R1836:Adam28	UTSW	14	68,886,870 (GRCm39)	missense	possibly damaging	0.85
R1838:Adam28	UTSW	14	68,876,659 (GRCm39)	missense	possibly damaging	0.53
R1839:Adam28	UTSW	14	68,876,659 (GRCm39)	missense	possibly damaging	0.53
R1850:Adam28	UTSW	14	68,876,644 (GRCm39)	missense	probably benign	0.01
R1912:Adam28	UTSW	14	68,881,780 (GRCm39)	missense	probably benign	0.24
R2830:Adam28	UTSW	14	68,864,363 (GRCm39)	missense	possibly damaging	0.65
R2889:Adam28	UTSW	14	68,872,294 (GRCm39)	missense	possibly damaging	0.85
R3977:Adam28	UTSW	14	68,848,443 (GRCm39)	missense	probably benign	0.20
R3978:Adam28	UTSW	14	68,848,443 (GRCm39)	missense	probably benign	0.20
R3979:Adam28	UTSW	14	68,848,443 (GRCm39)	missense	probably benign	0.20
R4282:Adam28	UTSW	14	68,885,155 (GRCm39)	missense	possibly damaging	0.92
R4416:Adam28	UTSW	14	68,859,531 (GRCm39)	critical splice donor site	probably null
R4690:Adam28	UTSW	14	68,879,497 (GRCm39)	missense	probably benign	0.01
R4724:Adam28	UTSW	14	68,864,326 (GRCm39)	missense	probably damaging	0.99
R4768:Adam28	UTSW	14	68,872,264 (GRCm39)	missense	possibly damaging	0.46
R4883:Adam28	UTSW	14	68,875,552 (GRCm39)	missense	probably damaging	0.99
R5054:Adam28	UTSW	14	68,855,164 (GRCm39)	missense	probably damaging	1.00
R5710:Adam28	UTSW	14	68,847,357 (GRCm39)	missense	probably damaging	0.96
R5835:Adam28	UTSW	14	68,893,130 (GRCm39)	missense	possibly damaging	0.96
R6002:Adam28	UTSW	14	68,879,511 (GRCm39)	missense	probably benign
R6054:Adam28	UTSW	14	68,879,601 (GRCm39)	missense	probably benign	0.01
R6349:Adam28	UTSW	14	68,870,621 (GRCm39)	missense	probably benign	0.29
R6449:Adam28	UTSW	14	68,868,116 (GRCm39)	missense	probably benign	0.31
R6455:Adam28	UTSW	14	68,870,657 (GRCm39)	missense	probably damaging	1.00
R6831:Adam28	UTSW	14	68,855,576 (GRCm39)	missense	probably benign	0.04
R6833:Adam28	UTSW	14	68,855,576 (GRCm39)	missense	probably benign	0.04
R7212:Adam28	UTSW	14	68,874,846 (GRCm39)	missense	probably damaging	0.99
R7411:Adam28	UTSW	14	68,864,396 (GRCm39)	missense	probably damaging	1.00
R7422:Adam28	UTSW	14	68,864,326 (GRCm39)	missense	probably damaging	1.00
R7516:Adam28	UTSW	14	68,868,125 (GRCm39)	missense	probably damaging	1.00
R7649:Adam28	UTSW	14	68,872,282 (GRCm39)	missense	probably benign	0.12
R7765:Adam28	UTSW	14	68,846,555 (GRCm39)	critical splice donor site	probably null
R8469:Adam28	UTSW	14	68,844,029 (GRCm39)	missense	probably benign	0.16
R8520:Adam28	UTSW	14	68,879,532 (GRCm39)	missense	probably damaging	0.98
R9026:Adam28	UTSW	14	68,846,593 (GRCm39)	missense	probably benign	0.16
R9163:Adam28	UTSW	14	68,866,531 (GRCm39)	missense	probably damaging	0.98
R9264:Adam28	UTSW	14	68,844,914 (GRCm39)	missense	probably benign
R9304:Adam28	UTSW	14	68,874,946 (GRCm39)	missense	probably damaging	1.00
R9357:Adam28	UTSW	14	68,879,479 (GRCm39)	missense	probably benign	0.36
R9441:Adam28	UTSW	14	68,874,943 (GRCm39)	missense	probably damaging	0.96
Z1177:Adam28	UTSW	14	68,864,233 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAGACTTGCGGAAGAGTCTGTGT -3'
(R):5'- GCTGAAGTAGACCAATAGGACAGCATC -3'

Sequencing Primer
(F):5'- CTTGCGGAAGAGTCTGTGTTTTATG -3'
(R):5'- GGGAAATCCTCCTATAAATGGTCCAG -3'

Posted On

2014-02-18