Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01021:Adam28'

53979

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: 0.186) question?

Stock #

IGL01021

Quality Score

Status

Chromosome

Chromosomal Location

68843476-68893291 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68879563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 162 (S162P)

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: S162P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725
AA Change: S162P

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: S162P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
AA Change: S162P

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: S162P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	T	C	7: 124,917,848 (GRCm39)	V80A	unknown	Het
Adamts14	G	T	10: 61,061,152 (GRCm39)	S426Y	probably damaging	Het
Ankrd24	A	G	10: 81,470,995 (GRCm39)		probably null	Het
B3galt5	C	A	16: 96,116,923 (GRCm39)	H185Q	probably benign	Het
Bod1l	A	G	5: 41,995,516 (GRCm39)		probably benign	Het
Ddx46	T	A	13: 55,814,145 (GRCm39)	Y700*	probably null	Het
Dph7	T	G	2: 24,861,935 (GRCm39)		probably null	Het
Eif1ad9	G	A	12: 88,296,042 (GRCm39)	G7R	unknown	Het
Fcho1	A	T	8: 72,166,167 (GRCm39)	Y354*	probably null	Het
Fnbp4	A	G	2: 90,608,013 (GRCm39)	M912V	probably benign	Het
Fpgt	T	A	3: 154,797,129 (GRCm39)	E42V	possibly damaging	Het
Frmd3	A	G	4: 73,992,357 (GRCm39)	I75V	possibly damaging	Het
Gm3278	G	T	14: 16,082,261 (GRCm39)	V159L	possibly damaging	Het
Gmds	T	C	13: 32,311,013 (GRCm39)	I205V	possibly damaging	Het
Gprin1	T	A	13: 54,888,182 (GRCm39)	S31C	probably damaging	Het
Igkv4-68	T	C	6: 69,281,865 (GRCm39)	E102G	probably damaging	Het
Itga1	T	A	13: 115,133,536 (GRCm39)	Y458F	probably benign	Het
Kif20b	T	C	19: 34,915,660 (GRCm39)	V479A	possibly damaging	Het
Megf8	T	A	7: 25,037,799 (GRCm39)	W772R	probably benign	Het
Muc6	T	A	7: 141,217,075 (GRCm39)	I2533F	possibly damaging	Het
Npas3	T	C	12: 54,050,343 (GRCm39)	S258P	probably damaging	Het
Padi3	T	C	4: 140,523,645 (GRCm39)		probably benign	Het
Pmfbp1	G	T	8: 110,264,625 (GRCm39)	R897L	possibly damaging	Het
Rims1	A	T	1: 22,525,701 (GRCm39)	W407R	probably damaging	Het
Scnn1b	G	T	7: 121,517,259 (GRCm39)	D632Y	probably damaging	Het
Tas2r123	G	A	6: 132,824,369 (GRCm39)	A89T	probably benign	Het
Tbk1	T	C	10: 121,387,177 (GRCm39)	E706G	probably benign	Het
Thra	A	G	11: 98,653,754 (GRCm39)	D195G	possibly damaging	Het
Tpp2	T	A	1: 43,973,347 (GRCm39)	Y33*	probably null	Het
Usp6nl	T	A	2: 6,429,198 (GRCm39)	M220K	probably damaging	Het
Vmn2r112	C	T	17: 22,837,885 (GRCm39)	T782I	probably damaging	Het
Zbtb43	T	C	2: 33,343,771 (GRCm39)	T485A	probably benign	Het
Zfat	T	C	15: 68,042,015 (GRCm39)	I840V	possibly 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
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
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

2013-06-28