Mutagenetix > Incidental Mutation

Incidental Mutation 'R1839:Adam28'

205638

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

045015-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R1839 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68606027-68655842 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68639210 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 197 (N197S)

Ref Sequence

ENSEMBL: ENSMUSP00000153354 (fasta)

Gene Model

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

AlphaFold

Q9JLN6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022642
AA Change: N197S

PolyPhen 2 Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725
AA Change: N197S

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

possibly damaging
Transcript: ENSMUST00000111072
AA Change: N197S

PolyPhen 2 Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
AA Change: N197S

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

possibly damaging
Transcript: ENSMUST00000224039
AA Change: N197S

PolyPhen 2 Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224131

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.7%
20x: 90.6%

Validation Efficiency

98% (90/92)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,409,720 (GRCm38)	T403A	probably damaging	Het
Acat3	T	A	17: 12,928,606 (GRCm38)	R175*	probably null	Het
Adam1b	C	A	5: 121,501,041 (GRCm38)	C647F	probably damaging	Het
Adcy2	C	T	13: 68,689,261 (GRCm38)		probably null	Het
Adcy5	A	T	16: 35,248,940 (GRCm38)	N426I	probably damaging	Het
Adgre1	T	C	17: 57,441,299 (GRCm38)	S500P	probably benign	Het
Aloxe3	A	G	11: 69,130,085 (GRCm38)	Y212C	probably damaging	Het
Ap3d1	A	G	10: 80,727,108 (GRCm38)	S180P	probably damaging	Het
Arhgap20	C	T	9: 51,849,326 (GRCm38)	R790W	probably damaging	Het
Atp8b4	C	A	2: 126,361,782 (GRCm38)	A757S	possibly damaging	Het
Begain	G	A	12: 109,035,323 (GRCm38)		probably benign	Het
Ccdc141	T	C	2: 77,011,665 (GRCm38)	E1474G	probably benign	Het
Ccdc88b	A	G	19: 6,854,109 (GRCm38)		probably benign	Het
Ccnk	A	G	12: 108,195,074 (GRCm38)	T195A	probably damaging	Het
Cd55b	C	A	1: 130,414,105 (GRCm38)	C265F	probably damaging	Het
Celsr3	A	G	9: 108,829,906 (GRCm38)	H1196R	probably benign	Het
Cenpt	T	C	8: 105,849,014 (GRCm38)	S190G	possibly damaging	Het
Chd8	T	C	14: 52,204,883 (GRCm38)	S2077G	probably benign	Het
Col6a5	G	A	9: 105,864,833 (GRCm38)	H2296Y	probably benign	Het
Cxxc4	C	A	3: 134,240,653 (GRCm38)	H332N	probably damaging	Het
Cyp24a1	T	C	2: 170,496,741 (GRCm38)	I12V	probably benign	Het
Cyp3a57	T	A	5: 145,381,301 (GRCm38)	L364Q	probably damaging	Het
Ddi2	T	C	4: 141,713,526 (GRCm38)	I47V	probably benign	Het
Ddx5	A	T	11: 106,784,897 (GRCm38)	D322E	probably benign	Het
Dhx40	A	G	11: 86,789,297 (GRCm38)	C405R	possibly damaging	Het
Emc1	T	C	4: 139,360,485 (GRCm38)	F100S	probably damaging	Het
Exoc2	T	C	13: 30,906,497 (GRCm38)		probably benign	Het
Gm10110	A	T	14: 89,897,836 (GRCm38)		noncoding transcript	Het
Gm17332	T	C	11: 31,182,386 (GRCm38)	H26R	possibly damaging	Het
Gna12	T	C	5: 140,762,612 (GRCm38)	N183S	probably benign	Het
Gpx6	A	G	13: 21,312,327 (GRCm38)	N24D	probably benign	Het
Gsdma3	C	T	11: 98,629,858 (GRCm38)	A105V	probably benign	Het
Hsd3b5	T	C	3: 98,619,728 (GRCm38)	Y134C	probably benign	Het
Ifi213	T	C	1: 173,589,600 (GRCm38)	I415M	probably damaging	Het
Ints9	C	A	14: 65,016,530 (GRCm38)	P278T	probably damaging	Het
Krt79	C	T	15: 101,937,938 (GRCm38)	E192K	possibly damaging	Het
Lrrk2	A	G	15: 91,683,134 (GRCm38)	N132S	probably benign	Het
Ltn1	T	A	16: 87,416,264 (GRCm38)	K470*	probably null	Het
Magi2	A	T	5: 20,465,827 (GRCm38)	T163S	probably damaging	Het
Mcm9	A	G	10: 53,541,553 (GRCm38)	M18T	probably damaging	Het
Med12l	A	G	3: 59,068,319 (GRCm38)	T212A	probably benign	Het
Mfhas1	T	C	8: 35,590,858 (GRCm38)	L829P	possibly damaging	Het
Mgme1	T	A	2: 144,279,487 (GRCm38)	C288S	probably benign	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Myh7	T	C	14: 54,973,180 (GRCm38)	N1725S	possibly damaging	Het
Nat6	G	A	9: 107,583,017 (GRCm38)	R37H	possibly damaging	Het
Nme4	A	T	17: 26,092,097 (GRCm38)	W165R	probably damaging	Het
Nup205	T	A	6: 35,219,714 (GRCm38)	D1128E	probably benign	Het
Olfr291	T	C	7: 84,856,548 (GRCm38)	Y60H	probably damaging	Het
Olfr330	A	T	11: 58,529,373 (GRCm38)	Y204*	probably null	Het
Pcdh1	T	C	18: 38,199,485 (GRCm38)	D155G	possibly damaging	Het
Pex12	A	T	11: 83,297,822 (GRCm38)	S116T	probably damaging	Het
Plekhh1	C	T	12: 79,078,957 (GRCm38)		probably benign	Het
Plekhh3	A	G	11: 101,163,600 (GRCm38)		probably benign	Het
Pnpt1	T	C	11: 29,154,342 (GRCm38)	M572T	possibly damaging	Het
Ppp1r12b	T	C	1: 134,837,981 (GRCm38)	R667G	probably benign	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,651,666 (GRCm38)		probably benign	Het
Rgs14	T	C	13: 55,382,838 (GRCm38)		probably benign	Het
Rhbdf2	A	T	11: 116,600,191 (GRCm38)	V645E	possibly damaging	Het
Robo3	A	G	9: 37,422,327 (GRCm38)	V696A	probably benign	Het
Sall1	A	G	8: 89,028,716 (GRCm38)	F1212L	possibly damaging	Het
Sdc4	T	C	2: 164,429,012 (GRCm38)	E109G	probably benign	Het
Serpind1	G	T	16: 17,342,992 (GRCm38)	R462L	probably damaging	Het
Smad9	CTTT	CTT	3: 54,789,179 (GRCm38)		probably benign	Het
Sstr4	C	A	2: 148,395,533 (GRCm38)	N21K	probably benign	Het
Tap1	C	T	17: 34,188,109 (GRCm38)	A77V	possibly damaging	Het
Thap4	T	C	1: 93,750,287 (GRCm38)	E259G	probably benign	Het
Thra	A	G	11: 98,756,143 (GRCm38)	N30S	probably benign	Het
Tmem207	A	T	16: 26,524,821 (GRCm38)	V27E	possibly damaging	Het
Top3a	A	G	11: 60,753,888 (GRCm38)	V305A	probably damaging	Het
Trim59	A	T	3: 69,037,638 (GRCm38)	I123K	probably damaging	Het
Ttn	T	C	2: 76,861,495 (GRCm38)		probably benign	Het
Ubac1	T	A	2: 26,007,738 (GRCm38)	E290V	possibly damaging	Het
Unc13b	T	C	4: 43,258,308 (GRCm38)		probably benign	Het
Uri1	A	T	7: 37,967,389 (GRCm38)	D206E	probably benign	Het
Utp4	A	G	8: 106,913,454 (GRCm38)	H465R	probably benign	Het
Uvssa	T	C	5: 33,389,752 (GRCm38)	S221P	probably benign	Het
Vmn1r39	T	C	6: 66,805,233 (GRCm38)		probably null	Het
Vps39	A	T	2: 120,325,397 (GRCm38)	L514H	probably damaging	Het
Vps72	G	A	3: 95,119,218 (GRCm38)	R158Q	possibly damaging	Het
Wdr59	T	C	8: 111,485,340 (GRCm38)	D366G	probably benign	Het
Zfp366	C	A	13: 99,228,492 (GRCm38)	Q54K	probably damaging	Het
Zfp523	T	A	17: 28,194,993 (GRCm38)	I34N	probably damaging	Het
Zfp974	G	A	7: 27,910,356 (GRCm38)	P648L	possibly damaging	Het

Other mutations in Adam28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Adam28	APN	14	68,622,120 (GRCm38)	missense	possibly damaging	0.47
IGL00654:Adam28	APN	14	68,649,428 (GRCm38)	missense	probably benign	0.00
IGL01021:Adam28	APN	14	68,642,114 (GRCm38)	missense	probably benign
IGL01099:Adam28	APN	14	68,637,329 (GRCm38)	critical splice donor site	probably null
IGL01349:Adam28	APN	14	68,611,006 (GRCm38)	missense	probably benign	0.01
IGL01744:Adam28	APN	14	68,607,507 (GRCm38)	missense	probably benign	0.07
IGL01805:Adam28	APN	14	68,642,091 (GRCm38)	missense	probably benign	0.09
IGL02007:Adam28	APN	14	68,633,219 (GRCm38)	missense	possibly damaging	0.69
IGL02828:Adam28	APN	14	68,646,870 (GRCm38)	missense	possibly damaging	0.46
IGL03180:Adam28	APN	14	68,637,434 (GRCm38)	missense	probably damaging	1.00
IGL03355:Adam28	APN	14	68,634,803 (GRCm38)	splice site	probably benign
IGL02980:Adam28	UTSW	14	68,619,806 (GRCm38)	missense	probably benign	0.01
PIT4453001:Adam28	UTSW	14	68,634,876 (GRCm38)	missense	probably benign	0.00
R0184:Adam28	UTSW	14	68,637,373 (GRCm38)	missense	probably benign	0.33
R0321:Adam28	UTSW	14	68,617,751 (GRCm38)	missense	probably damaging	0.97
R0329:Adam28	UTSW	14	68,617,739 (GRCm38)	missense	probably damaging	0.96
R0494:Adam28	UTSW	14	68,630,792 (GRCm38)	splice site	probably benign
R0605:Adam28	UTSW	14	68,606,600 (GRCm38)	unclassified	probably benign
R0732:Adam28	UTSW	14	68,637,347 (GRCm38)	missense	probably benign	0.00
R0959:Adam28	UTSW	14	68,607,938 (GRCm38)	missense	possibly damaging	0.93
R1319:Adam28	UTSW	14	68,609,129 (GRCm38)	missense	probably benign	0.28
R1745:Adam28	UTSW	14	68,633,171 (GRCm38)	missense	probably benign	0.04
R1836:Adam28	UTSW	14	68,649,421 (GRCm38)	missense	possibly damaging	0.85
R1838:Adam28	UTSW	14	68,639,210 (GRCm38)	missense	possibly damaging	0.53
R1850:Adam28	UTSW	14	68,639,195 (GRCm38)	missense	probably benign	0.01
R1912:Adam28	UTSW	14	68,644,331 (GRCm38)	missense	probably benign	0.24
R2830:Adam28	UTSW	14	68,626,914 (GRCm38)	missense	possibly damaging	0.65
R2889:Adam28	UTSW	14	68,634,845 (GRCm38)	missense	possibly damaging	0.85
R3977:Adam28	UTSW	14	68,610,994 (GRCm38)	missense	probably benign	0.20
R3978:Adam28	UTSW	14	68,610,994 (GRCm38)	missense	probably benign	0.20
R3979:Adam28	UTSW	14	68,610,994 (GRCm38)	missense	probably benign	0.20
R4282:Adam28	UTSW	14	68,647,706 (GRCm38)	missense	possibly damaging	0.92
R4416:Adam28	UTSW	14	68,622,082 (GRCm38)	critical splice donor site	probably null
R4690:Adam28	UTSW	14	68,642,048 (GRCm38)	missense	probably benign	0.01
R4724:Adam28	UTSW	14	68,626,877 (GRCm38)	missense	probably damaging	0.99
R4768:Adam28	UTSW	14	68,634,815 (GRCm38)	missense	possibly damaging	0.46
R4883:Adam28	UTSW	14	68,638,103 (GRCm38)	missense	probably damaging	0.99
R5054:Adam28	UTSW	14	68,617,715 (GRCm38)	missense	probably damaging	1.00
R5710:Adam28	UTSW	14	68,609,908 (GRCm38)	missense	probably damaging	0.96
R5835:Adam28	UTSW	14	68,655,681 (GRCm38)	missense	possibly damaging	0.96
R6002:Adam28	UTSW	14	68,642,062 (GRCm38)	missense	probably benign
R6054:Adam28	UTSW	14	68,642,152 (GRCm38)	missense	probably benign	0.01
R6349:Adam28	UTSW	14	68,633,172 (GRCm38)	missense	probably benign	0.29
R6449:Adam28	UTSW	14	68,630,667 (GRCm38)	missense	probably benign	0.31
R6455:Adam28	UTSW	14	68,633,208 (GRCm38)	missense	probably damaging	1.00
R6831:Adam28	UTSW	14	68,618,127 (GRCm38)	missense	probably benign	0.04
R6833:Adam28	UTSW	14	68,618,127 (GRCm38)	missense	probably benign	0.04
R7212:Adam28	UTSW	14	68,637,397 (GRCm38)	missense	probably damaging	0.99
R7411:Adam28	UTSW	14	68,626,947 (GRCm38)	missense	probably damaging	1.00
R7422:Adam28	UTSW	14	68,626,877 (GRCm38)	missense	probably damaging	1.00
R7516:Adam28	UTSW	14	68,630,676 (GRCm38)	missense	probably damaging	1.00
R7649:Adam28	UTSW	14	68,634,833 (GRCm38)	missense	probably benign	0.12
R7765:Adam28	UTSW	14	68,609,106 (GRCm38)	critical splice donor site	probably null
R8469:Adam28	UTSW	14	68,606,580 (GRCm38)	missense	probably benign	0.16
R8520:Adam28	UTSW	14	68,642,083 (GRCm38)	missense	probably damaging	0.98
R9026:Adam28	UTSW	14	68,609,144 (GRCm38)	missense	probably benign	0.16
R9163:Adam28	UTSW	14	68,629,082 (GRCm38)	missense	probably damaging	0.98
R9264:Adam28	UTSW	14	68,607,465 (GRCm38)	missense	probably benign
R9304:Adam28	UTSW	14	68,637,497 (GRCm38)	missense	probably damaging	1.00
R9357:Adam28	UTSW	14	68,642,030 (GRCm38)	missense	probably benign	0.36
R9441:Adam28	UTSW	14	68,637,494 (GRCm38)	missense	probably damaging	0.96
Z1177:Adam28	UTSW	14	68,626,784 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCAAGGGTTGCCTTTCTCC -3'
(R):5'- TTGTCTGTACACATGCCGG -3'

Sequencing Primer
(F):5'- AGGGTTGCCTTTCTCCAAAAAGC -3'
(R):5'- ACACATGCCGGGGTGTTG -3'

Posted On

2014-06-23