Mutagenetix > Incidental Mutation

Incidental Mutation 'R7649:Adam28'

590713

Institutional Source

Beutler Lab

Gene Symbol

Adam28

Ensembl Gene

ENSMUSG00000014725

Gene Name

a disintegrin and metallopeptidase domain 28

Synonyms

D430033C21Rik, C130072N01Rik, MDC-L, Dtgn1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R7649 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68606027-68655842 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68634833 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 320 (Y320F)

Ref Sequence

ENSEMBL: ENSMUSP00000022642 (fasta)

Gene Model

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

AlphaFold

Q9JLN6

Predicted Effect

probably benign
Transcript: ENSMUST00000022642
AA Change: Y320F

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725
AA Change: Y320F

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: Y320F

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
AA Change: Y320F

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: Y320F

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (57/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3b	T	C	5: 25,848,366	V319A	probably benign	Het
Adam4	T	C	12: 81,420,377	Y490C	probably damaging	Het
Ampd3	G	T	7: 110,777,842	L13F	probably benign	Het
Arhgap45	C	A	10: 80,031,001	Q1113K	probably benign	Het
Arid5b	T	C	10: 68,118,345	T370A	possibly damaging	Het
Arl15	A	G	13: 113,967,672	D115G	possibly damaging	Het
AW146154	G	A	7: 41,480,732	T320I	probably benign	Het
Cdh17	C	T	4: 11,814,698	P751L	probably damaging	Het
Chchd4	C	T	6: 91,467,772	R11Q	probably benign	Het
Clta	T	G	4: 44,025,494	I140R	possibly damaging	Het
Cnpy1	T	C	5: 28,207,284	T84A	probably benign	Het
Cpne5	T	C	17: 29,226,198	D44G	probably damaging	Het
Crkl	T	C	16: 17,452,502	S9P	unknown	Het
Csmd3	T	C	15: 47,669,143	D1641G		Het
Ctnnd2	A	G	15: 31,027,484	T1185A	probably benign	Het
Dlc1	A	T	8: 36,582,740	L607Q	probably damaging	Het
Dpy19l2	T	C	9: 24,696,163	M1V	probably null	Het
Dst	T	C	1: 34,167,697	V982A	probably benign	Het
Fam135b	T	C	15: 71,462,580	I922V	probably benign	Het
Fbxl13	T	C	5: 21,614,666	E245G	probably benign	Het
Fcgbp	T	C	7: 28,091,503	S730P	possibly damaging	Het
Ggt1	T	C	10: 75,585,456	V468A	possibly damaging	Het
Gja5	A	T	3: 97,051,641	H338L	probably benign	Het
Herpud2	T	C	9: 25,110,606	E248G	possibly damaging	Het
Il17rd	C	A	14: 27,039,210	A36E	probably benign	Het
Irf2bpl	T	C	12: 86,882,798	Y367C	possibly damaging	Het
Lama1	T	A	17: 67,737,554	D149E		Het
Lipf	A	T	19: 33,965,698	E135D	possibly damaging	Het
Manea	T	A	4: 26,328,234	D269V	probably damaging	Het
Megf6	A	G	4: 154,265,085	Y910C	probably damaging	Het
Mical3	G	A	6: 120,934,948	R1928W	probably damaging	Het
Olfr1462	T	A	19: 13,190,772	I35N	possibly damaging	Het
Olfr273	G	A	4: 52,855,692	Q274*	probably null	Het
Plch1	G	T	3: 63,698,169	S1438*	probably null	Het
Por	T	C	5: 135,734,505	F595L	probably damaging	Het
Prkcg	G	A	7: 3,329,964	R634H	probably benign	Het
Prr14l	C	T	5: 32,828,245	G1302D	probably benign	Het
Rcan3	A	T	4: 135,412,488	S135T	probably benign	Het
Rnf223	A	G	4: 156,132,203	M12V	probably benign	Het
Rps6kb2	A	G	19: 4,157,021	S483P	unknown	Het
Sacs	T	A	14: 61,203,228	F908I	possibly damaging	Het
Slc4a9	A	G	18: 36,528,377	Q64R	probably benign	Het
Slco4c1	T	A	1: 96,828,942	I552F	probably benign	Het
Sppl2b	C	T	10: 80,867,419	P505L	probably benign	Het
Sptbn4	A	G	7: 27,361,577	S2434P	possibly damaging	Het
Ssh1	A	T	5: 113,950,551	M395K	probably benign	Het
Stk10	A	T	11: 32,577,764	I171F		Het
Tmx3	C	T	18: 90,540,030	A402V	probably damaging	Het
Tnfrsf13c	T	C	15: 82,224,140	D58G	possibly damaging	Het
Tnk1	T	C	11: 69,853,577		probably null	Het
Trav14n-3	A	T	14: 53,370,494	N94Y	probably damaging	Het
Trav5-4	A	T	14: 53,704,445	K92*	probably null	Het
Tsga10	C	T	1: 37,835,148	R190H	unknown	Het
Zfhx3	T	C	8: 108,951,644	F3109L	probably benign	Het
Zfhx4	A	G	3: 5,242,110	Y132C	probably damaging	Het
Zfp521	T	C	18: 13,844,356	E1000G	probably damaging	Het

Other mutations in Adam28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Adam28	APN	14	68622120	missense	possibly damaging	0.47
IGL00654:Adam28	APN	14	68649428	missense	probably benign	0.00
IGL01021:Adam28	APN	14	68642114	missense	probably benign
IGL01099:Adam28	APN	14	68637329	critical splice donor site	probably null
IGL01349:Adam28	APN	14	68611006	missense	probably benign	0.01
IGL01744:Adam28	APN	14	68607507	missense	probably benign	0.07
IGL01805:Adam28	APN	14	68642091	missense	probably benign	0.09
IGL02007:Adam28	APN	14	68633219	missense	possibly damaging	0.69
IGL02828:Adam28	APN	14	68646870	missense	possibly damaging	0.46
IGL03180:Adam28	APN	14	68637434	missense	probably damaging	1.00
IGL03355:Adam28	APN	14	68634803	splice site	probably benign
IGL02980:Adam28	UTSW	14	68619806	missense	probably benign	0.01
PIT4453001:Adam28	UTSW	14	68634876	missense	probably benign	0.00
R0184:Adam28	UTSW	14	68637373	missense	probably benign	0.33
R0321:Adam28	UTSW	14	68617751	missense	probably damaging	0.97
R0329:Adam28	UTSW	14	68617739	missense	probably damaging	0.96
R0494:Adam28	UTSW	14	68630792	splice site	probably benign
R0605:Adam28	UTSW	14	68606600	unclassified	probably benign
R0732:Adam28	UTSW	14	68637347	missense	probably benign	0.00
R0959:Adam28	UTSW	14	68607938	missense	possibly damaging	0.93
R1319:Adam28	UTSW	14	68609129	missense	probably benign	0.28
R1745:Adam28	UTSW	14	68633171	missense	probably benign	0.04
R1836:Adam28	UTSW	14	68649421	missense	possibly damaging	0.85
R1838:Adam28	UTSW	14	68639210	missense	possibly damaging	0.53
R1839:Adam28	UTSW	14	68639210	missense	possibly damaging	0.53
R1850:Adam28	UTSW	14	68639195	missense	probably benign	0.01
R1912:Adam28	UTSW	14	68644331	missense	probably benign	0.24
R2830:Adam28	UTSW	14	68626914	missense	possibly damaging	0.65
R2889:Adam28	UTSW	14	68634845	missense	possibly damaging	0.85
R3977:Adam28	UTSW	14	68610994	missense	probably benign	0.20
R3978:Adam28	UTSW	14	68610994	missense	probably benign	0.20
R3979:Adam28	UTSW	14	68610994	missense	probably benign	0.20
R4282:Adam28	UTSW	14	68647706	missense	possibly damaging	0.92
R4416:Adam28	UTSW	14	68622082	critical splice donor site	probably null
R4690:Adam28	UTSW	14	68642048	missense	probably benign	0.01
R4724:Adam28	UTSW	14	68626877	missense	probably damaging	0.99
R4768:Adam28	UTSW	14	68634815	missense	possibly damaging	0.46
R4883:Adam28	UTSW	14	68638103	missense	probably damaging	0.99
R5054:Adam28	UTSW	14	68617715	missense	probably damaging	1.00
R5710:Adam28	UTSW	14	68609908	missense	probably damaging	0.96
R5835:Adam28	UTSW	14	68655681	missense	possibly damaging	0.96
R6002:Adam28	UTSW	14	68642062	missense	probably benign
R6054:Adam28	UTSW	14	68642152	missense	probably benign	0.01
R6349:Adam28	UTSW	14	68633172	missense	probably benign	0.29
R6449:Adam28	UTSW	14	68630667	missense	probably benign	0.31
R6455:Adam28	UTSW	14	68633208	missense	probably damaging	1.00
R6831:Adam28	UTSW	14	68618127	missense	probably benign	0.04
R6833:Adam28	UTSW	14	68618127	missense	probably benign	0.04
R7212:Adam28	UTSW	14	68637397	missense	probably damaging	0.99
R7411:Adam28	UTSW	14	68626947	missense	probably damaging	1.00
R7422:Adam28	UTSW	14	68626877	missense	probably damaging	1.00
R7516:Adam28	UTSW	14	68630676	missense	probably damaging	1.00
R7765:Adam28	UTSW	14	68609106	critical splice donor site	probably null
R8469:Adam28	UTSW	14	68606580	missense	probably benign	0.16
R8520:Adam28	UTSW	14	68642083	missense	probably damaging	0.98
R9026:Adam28	UTSW	14	68609144	missense	probably benign	0.16
R9163:Adam28	UTSW	14	68629082	missense	probably damaging	0.98
R9264:Adam28	UTSW	14	68607465	missense	probably benign
R9304:Adam28	UTSW	14	68637497	missense	probably damaging	1.00
R9357:Adam28	UTSW	14	68642030	missense	probably benign	0.36
R9441:Adam28	UTSW	14	68637494	missense	probably damaging	0.96
Z1177:Adam28	UTSW	14	68626784	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCAATCGATTTTGCTCATTGAAA -3'
(R):5'- AGTGATCGTTGGAAACTTAAATTTCTC -3'

Sequencing Primer
(F):5'- ACTGCCCTTGAGTCTAGAATGCAG -3'
(R):5'- CTAGTCCCTGTTTAGACTTCTAAAGG -3'

Posted On

2019-10-24