Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01805:Adam28'

155640

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam28

Ensembl Gene

ENSMUSG00000014725

Gene Name

a disintegrin and metallopeptidase domain 28

Synonyms

MDC-L, D430033C21Rik, Dtgn1, C130072N01Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01805

Quality Score

Status

Chromosome

Chromosomal Location

68843476-68893291 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 68879540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 169 (S169R)

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: S169R

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725
AA Change: S169R

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: S169R

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
AA Change: S169R

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: S169R

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224131

Coding Region Coverage

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	T	C	1: 52,964,677 (GRCm39)	D17G	possibly damaging	Het
Aox1	T	C	1: 58,120,672 (GRCm39)	M855T	possibly damaging	Het
Apc	C	A	18: 34,451,271 (GRCm39)	N2688K	probably benign	Het
Arhgap23	T	A	11: 97,383,428 (GRCm39)		probably benign	Het
Bpifa6	A	G	2: 153,826,832 (GRCm39)	T66A	probably benign	Het
C1qtnf1	T	A	11: 118,338,993 (GRCm39)	L221Q	probably damaging	Het
Ccdc175	T	A	12: 72,176,003 (GRCm39)		probably benign	Het
Ccl1	C	A	11: 82,068,958 (GRCm39)	M26I	possibly damaging	Het
Dnah10	T	A	5: 124,860,985 (GRCm39)	F2123I	probably damaging	Het
Fancm	T	C	12: 65,160,635 (GRCm39)		probably null	Het
Fstl4	C	A	11: 53,077,184 (GRCm39)	A647E	probably damaging	Het
Hmgb4	G	T	4: 128,154,015 (GRCm39)		probably benign	Het
Hr	A	T	14: 70,802,737 (GRCm39)		probably benign	Het
Ilrun	C	T	17: 27,986,880 (GRCm39)		probably benign	Het
Kcna4	G	T	2: 107,126,843 (GRCm39)	V526L	probably damaging	Het
Mas1	T	C	17: 13,061,117 (GRCm39)	Y102C	probably damaging	Het
Mucl3	T	A	17: 35,948,535 (GRCm39)	T355S	possibly damaging	Het
Mul1	C	T	4: 138,166,974 (GRCm39)	P343S	possibly damaging	Het
Obscn	T	C	11: 59,023,422 (GRCm39)	S652G	probably damaging	Het
Or8g55	T	C	9: 39,785,075 (GRCm39)	F168S	probably damaging	Het
Pjvk	A	T	2: 76,487,858 (GRCm39)	N250I	probably benign	Het
Pkd2	T	C	5: 104,630,959 (GRCm39)	I461T	probably benign	Het
Psen2	T	C	1: 180,057,403 (GRCm39)		probably null	Het
Ralb	T	C	1: 119,403,725 (GRCm39)	E81G	probably benign	Het
Slc15a4	T	C	5: 127,685,900 (GRCm39)	T261A	possibly damaging	Het
Vmn2r77	G	A	7: 86,460,395 (GRCm39)	V574M	probably benign	Het
Xrn2	A	G	2: 146,870,063 (GRCm39)	I251V	probably damaging	Het
Zfp974	G	A	7: 27,611,689 (GRCm39)		probably benign	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
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
R1319:Adam28	UTSW	14	68,846,578 (GRCm39)	missense	probably benign	0.28
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

Posted On

2014-02-04