Mutagenetix > Incidental Mutation

Incidental Mutation 'R0317:Adam34'

25457

Institutional Source

Beutler Lab

Gene Symbol

Adam34

Ensembl Gene

ENSMUSG00000079058

Gene Name

a disintegrin and metallopeptidase domain 34

Synonyms

testase 4

MMRRC Submission

038527-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R0317 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43650309-43710049 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 43652251 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 119 (P119L)

Ref Sequence

ENSEMBL: ENSMUSP00000148332 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110411] [ENSMUST00000212185]

AlphaFold

A2RSG8

Predicted Effect

probably benign
Transcript: ENSMUST00000110411
AA Change: P119L

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106041
Gene: ENSMUSG00000079058
AA Change: P119L

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
Pfam:Pep_M12B_propep	40	159	5.9e-20	PFAM
Pfam:Reprolysin_5	205	377	1.6e-16	PFAM
Pfam:Reprolysin_4	205	393	3e-12	PFAM
Pfam:Reprolysin	207	397	9.4e-49	PFAM
Pfam:Reprolysin_2	224	389	1e-14	PFAM
Pfam:Reprolysin_3	231	352	2.7e-14	PFAM
DISIN	416	491	3.38e-40	SMART
ACR	492	628	9.18e-62	SMART
transmembrane domain	685	707	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000212185
AA Change: P119L

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,293,459	V1774A	probably damaging	Het
Ap3b2	T	C	7: 81,463,681		probably null	Het
Arfip2	G	A	7: 105,637,223	T124M	probably damaging	Het
Arhgef26	T	C	3: 62,423,544	S560P	probably damaging	Het
Bcl11a	A	T	11: 24,172,697		probably null	Het
Cab39	A	G	1: 85,849,160	E322G	probably damaging	Het
Cad	C	A	5: 31,072,321	P1382Q	probably benign	Het
Cc2d2a	T	C	5: 43,706,901		probably null	Het
Cela2a	A	T	4: 141,821,700		probably null	Het
Ces1e	A	C	8: 93,224,039	I38S	probably benign	Het
Ces1f	A	T	8: 93,263,391	F364I	probably benign	Het
Chgb	A	G	2: 132,793,811	T558A	probably benign	Het
Cnpy4	C	T	5: 138,192,812	Q217*	probably null	Het
Col4a3bp	C	T	13: 96,634,121	R487*	probably null	Het
Crlf1	A	G	8: 70,498,599	T43A	probably benign	Het
Dnah7b	T	A	1: 46,134,656	M707K	probably damaging	Het
Ets2	G	A	16: 95,712,149	S123N	probably damaging	Het
Fam196b	C	A	11: 34,402,826	D289E	possibly damaging	Het
Fry	T	C	5: 150,471,468	F304S	probably damaging	Het
Gadd45gip1	G	A	8: 84,834,116	R120H	probably benign	Het
Gbf1	A	G	19: 46,254,020	T96A	probably benign	Het
Ggn	T	A	7: 29,171,090	M1K	probably null	Het
Gm5239	A	G	18: 35,536,916	T112A	probably benign	Het
Kif1bp	A	T	10: 62,578,082		probably null	Het
Lrrc15	A	T	16: 30,273,743	H259Q	probably benign	Het
Lysmd4	A	G	7: 67,226,297	Y236C	probably damaging	Het
Med29	T	C	7: 28,386,859	T175A	possibly damaging	Het
Mfsd12	G	T	10: 81,357,799	D68Y	probably damaging	Het
Myh1	T	C	11: 67,217,512	L1308P	probably damaging	Het
Nphp4	T	A	4: 152,551,931		probably null	Het
Olfr948	A	G	9: 39,319,461	I51T	probably benign	Het
Pdhx	A	G	2: 103,028,280	V393A	probably benign	Het
Pgm5	A	G	19: 24,824,399	I155T	possibly damaging	Het
Pgr	A	T	9: 8,965,022	I889F	probably benign	Het
Phactr4	T	A	4: 132,386,930	K51I	probably damaging	Het
Pum2	T	A	12: 8,728,754	I468K	possibly damaging	Het
Rab11a	A	G	9: 64,725,553	S24P	probably damaging	Het
Rasef	T	C	4: 73,748,562	Q160R	probably damaging	Het
Rbl2	A	G	8: 91,087,144	D339G	probably benign	Het
Recql5	A	G	11: 115,894,673	S666P	probably benign	Het
Rfc1	A	T	5: 65,296,052		probably null	Het
Scarb1	A	G	5: 125,289,692	V59A	probably damaging	Het
Slc2a4	C	T	11: 69,946,356	V85M	probably damaging	Het
Slc6a12	A	G	6: 121,358,625	I291V	possibly damaging	Het
Slco3a1	A	C	7: 74,504,426	Y104D	probably damaging	Het
Suz12	T	A	11: 79,999,078	D13E	probably damaging	Het
Tlr1	G	T	5: 64,925,967	C422*	probably null	Het
Tmco1	T	C	1: 167,325,893	V114A	probably damaging	Het
Trpa1	T	C	1: 14,881,632	T948A	probably benign	Het
Tub	A	T	7: 109,020,927	N93Y	probably damaging	Het
Ufsp2	G	A	8: 45,992,233		probably null	Het
Veph1	T	C	3: 66,171,975	D373G	probably benign	Het
Vmn1r206	A	G	13: 22,620,960	S26P	possibly damaging	Het
Vmn2r1	T	C	3: 64,081,819	S60P	possibly damaging	Het
Wdcp	A	G	12: 4,851,583	S480G	probably benign	Het
Wnk4	T	C	11: 101,268,804	S612P	probably benign	Het
Zfp503	T	C	14: 21,986,459	K130E	probably benign	Het
Zkscan16	G	A	4: 58,957,602	C628Y	possibly damaging	Het

Other mutations in Adam34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00545:Adam34	APN	8	43652190	missense	possibly damaging	0.91
IGL01296:Adam34	APN	8	43651141	missense	possibly damaging	0.90
IGL01369:Adam34	APN	8	43651057	missense	probably benign	0.00
IGL01933:Adam34	APN	8	43651532	missense	probably damaging	1.00
IGL01938:Adam34	APN	8	43651016	missense	probably damaging	1.00
IGL02112:Adam34	APN	8	43651138	missense	possibly damaging	0.46
IGL02182:Adam34	APN	8	43651753	missense	probably benign
IGL02306:Adam34	APN	8	43650485	missense	probably benign	0.44
IGL02661:Adam34	APN	8	43651535	missense	probably damaging	1.00
IGL02888:Adam34	APN	8	43651573	missense	probably damaging	1.00
IGL02979:Adam34	APN	8	43651371	missense	probably damaging	1.00
IGL03073:Adam34	APN	8	43650903	missense	probably damaging	0.99
BB010:Adam34	UTSW	8	43650874	missense	probably damaging	1.00
BB020:Adam34	UTSW	8	43650874	missense	probably damaging	1.00
PIT4453001:Adam34	UTSW	8	43651312	missense	probably damaging	1.00
R0060:Adam34	UTSW	8	43675883	intron	probably benign
R0322:Adam34	UTSW	8	43651921	missense	probably benign	0.00
R0427:Adam34	UTSW	8	43652456	missense	probably benign	0.15
R0593:Adam34	UTSW	8	43651687	missense	possibly damaging	0.87
R0837:Adam34	UTSW	8	43651500	missense	probably benign	0.00
R0927:Adam34	UTSW	8	43651584	missense	probably damaging	1.00
R1634:Adam34	UTSW	8	43652090	missense	possibly damaging	0.81
R1653:Adam34	UTSW	8	43650645	nonsense	probably null
R1826:Adam34	UTSW	8	43651342	missense	probably damaging	1.00
R1873:Adam34	UTSW	8	43651806	missense	probably benign	0.02
R1943:Adam34	UTSW	8	43650827	missense	possibly damaging	0.48
R1943:Adam34	UTSW	8	43651815	missense	probably damaging	1.00
R2147:Adam34	UTSW	8	43652501	missense	probably benign	0.01
R2150:Adam34	UTSW	8	43652501	missense	probably benign	0.01
R2206:Adam34	UTSW	8	43652237	missense	probably benign	0.02
R2207:Adam34	UTSW	8	43652237	missense	probably benign	0.02
R2268:Adam34	UTSW	8	43650610	missense	probably benign	0.00
R2349:Adam34	UTSW	8	43652378	missense	probably damaging	0.99
R3983:Adam34	UTSW	8	43650769	missense	probably benign
R4158:Adam34	UTSW	8	43650817	missense	probably damaging	1.00
R4179:Adam34	UTSW	8	43651091	missense	probably benign	0.18
R5219:Adam34	UTSW	8	43651424	missense	probably benign
R5398:Adam34	UTSW	8	43651241	missense	probably damaging	1.00
R5611:Adam34	UTSW	8	43651712	missense	probably benign	0.43
R5928:Adam34	UTSW	8	43652030	missense	probably benign	0.08
R6115:Adam34	UTSW	8	43652061	missense	probably benign
R6319:Adam34	UTSW	8	43651915	missense	probably benign	0.01
R6384:Adam34	UTSW	8	43650799	missense	probably benign	0.00
R6706:Adam34	UTSW	8	43651442	nonsense	probably null
R6992:Adam34	UTSW	8	43652605	start codon destroyed	probably null	1.00
R7032:Adam34	UTSW	8	43652266	missense	probably damaging	1.00
R7151:Adam34	UTSW	8	43651462	missense	probably benign	0.19
R7187:Adam34	UTSW	8	43652528	missense	probably benign	0.02
R7223:Adam34	UTSW	8	43652004	missense	probably benign	0.02
R7487:Adam34	UTSW	8	43651154	missense	probably damaging	1.00
R7726:Adam34	UTSW	8	43651171	missense	probably damaging	0.99
R7789:Adam34	UTSW	8	43652451	missense	probably benign	0.00
R7810:Adam34	UTSW	8	43652008	missense	probably benign	0.01
R7933:Adam34	UTSW	8	43650874	missense	probably damaging	1.00
R8192:Adam34	UTSW	8	43650933	missense	probably damaging	1.00
R8231:Adam34	UTSW	8	43651622	missense	probably benign
R8238:Adam34	UTSW	8	43650956	missense	probably damaging	1.00
R8259:Adam34	UTSW	8	43651609	missense	probably benign	0.03
R8339:Adam34	UTSW	8	43650603	missense	probably benign	0.20
R8381:Adam34	UTSW	8	43651810	missense	possibly damaging	0.70
R8670:Adam34	UTSW	8	43652089	missense	possibly damaging	0.91
R8693:Adam34	UTSW	8	43651604	missense	probably benign
R8932:Adam34	UTSW	8	43652155	missense	probably benign	0.19
R8936:Adam34	UTSW	8	43651402	missense	probably benign	0.00
R8981:Adam34	UTSW	8	43650803	missense	probably benign	0.05
R9040:Adam34	UTSW	8	43650326	unclassified	probably benign
R9105:Adam34	UTSW	8	43650748	missense	probably damaging	1.00
R9305:Adam34	UTSW	8	43651379	missense	probably damaging	1.00
R9321:Adam34	UTSW	8	43652206	missense	probably damaging	1.00
R9641:Adam34	UTSW	8	43651039	missense	probably damaging	0.97
R9644:Adam34	UTSW	8	43651729	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GTGCTATTTCCTCCTCTGATAACCCACA -3'
(R):5'- AGGACTGGGACAACAAGGACTTCTCAA -3'

Sequencing Primer
(F):5'- ATCTCATGGGAGATGGTTCG -3'
(R):5'- TGCTAAGTACAGTAGCCTTCCAG -3'

Posted On

2013-04-16