Mutagenetix > Incidental Mutation

Incidental Mutation 'R0593:Adam34'

56062

Institutional Source

Beutler Lab

Gene Symbol

Adam34

Ensembl Gene

ENSMUSG00000079058

Gene Name

a disintegrin and metallopeptidase domain 34

Synonyms

testase 4

MMRRC Submission

038783-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R0593 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44103346-44118597 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44104724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 307 (Y307C)

Ref Sequence

ENSEMBL: ENSMUSP00000148332 (fasta)

Gene Model

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

AlphaFold

A2RSG8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110411
AA Change: Y307C

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106041
Gene: ENSMUSG00000079058
AA Change: Y307C

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

possibly damaging
Transcript: ENSMUST00000212185
AA Change: Y307C

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 96.9%
20x: 93.4%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 109,958,925 (GRCm39)	D733G	probably damaging	Het
Acmsd	T	C	1: 127,666,340 (GRCm39)		probably benign	Het
Alox12e	A	G	11: 70,211,723 (GRCm39)		probably benign	Het
Ankrd50	C	A	3: 38,537,156 (GRCm39)	G29*	probably null	Het
Arhgap17	T	C	7: 122,885,966 (GRCm39)		probably benign	Het
Asah1	A	G	8: 41,802,619 (GRCm39)	M141T	probably benign	Het
Atg2a	GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	19: 6,295,037 (GRCm39)		probably benign	Het
Bsn	A	T	9: 107,987,505 (GRCm39)	I2749N	unknown	Het
Cds2	G	A	2: 132,139,296 (GRCm39)		probably benign	Het
Ckmt2	A	G	13: 92,001,757 (GRCm39)	V384A	probably damaging	Het
Clock	A	G	5: 76,413,683 (GRCm39)	S71P	probably benign	Het
Cops6	A	G	5: 138,161,842 (GRCm39)	T96A	probably benign	Het
Csnka2ip	A	T	16: 64,298,975 (GRCm39)	V19D	probably damaging	Het
Dcaf17	T	A	2: 70,917,744 (GRCm39)		probably null	Het
Dscam	T	C	16: 96,573,608 (GRCm39)	K785E	probably benign	Het
Eif2d	T	A	1: 131,083,465 (GRCm39)		probably benign	Het
Gal3st2b	T	C	1: 93,868,549 (GRCm39)	V258A	probably benign	Het
Gucy2c	T	C	6: 136,705,333 (GRCm39)	N534S	probably damaging	Het
Hook1	C	T	4: 95,887,023 (GRCm39)	T210I	possibly damaging	Het
Ifi203	T	C	1: 173,756,215 (GRCm39)		probably benign	Het
Irf7	T	C	7: 140,844,975 (GRCm39)		probably benign	Het
Lrp2	C	T	2: 69,297,350 (GRCm39)	V3204I	probably benign	Het
Mtx2	A	G	2: 74,699,780 (GRCm39)		probably benign	Het
Nelfcd	G	T	2: 174,265,223 (GRCm39)	V248L	probably benign	Het
Oosp1	T	C	19: 11,645,776 (GRCm39)	S121G	probably benign	Het
Or10am5	T	A	7: 6,517,808 (GRCm39)	N207Y	probably benign	Het
Sec16b	G	C	1: 157,359,718 (GRCm39)	G164R	probably benign	Het
Slc22a14	T	A	9: 118,998,919 (GRCm39)	D561V	probably benign	Het
Tet2	G	A	3: 133,193,870 (GRCm39)	T188I	probably benign	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Trp53bp1	A	G	2: 121,101,009 (GRCm39)	V63A	possibly damaging	Het
Ube2d2a	T	G	18: 35,903,438 (GRCm39)		probably benign	Het
Vmn1r113	T	A	7: 20,521,388 (GRCm39)	V60E	probably damaging	Het

Other mutations in Adam34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00545:Adam34	APN	8	44,105,227 (GRCm39)	missense	possibly damaging	0.91
IGL01296:Adam34	APN	8	44,104,178 (GRCm39)	missense	possibly damaging	0.90
IGL01369:Adam34	APN	8	44,104,094 (GRCm39)	missense	probably benign	0.00
IGL01933:Adam34	APN	8	44,104,569 (GRCm39)	missense	probably damaging	1.00
IGL01938:Adam34	APN	8	44,104,053 (GRCm39)	missense	probably damaging	1.00
IGL02112:Adam34	APN	8	44,104,175 (GRCm39)	missense	possibly damaging	0.46
IGL02182:Adam34	APN	8	44,104,790 (GRCm39)	missense	probably benign
IGL02306:Adam34	APN	8	44,103,522 (GRCm39)	missense	probably benign	0.44
IGL02661:Adam34	APN	8	44,104,572 (GRCm39)	missense	probably damaging	1.00
IGL02888:Adam34	APN	8	44,104,610 (GRCm39)	missense	probably damaging	1.00
IGL02979:Adam34	APN	8	44,104,408 (GRCm39)	missense	probably damaging	1.00
IGL03073:Adam34	APN	8	44,103,940 (GRCm39)	missense	probably damaging	0.99
BB010:Adam34	UTSW	8	44,103,911 (GRCm39)	missense	probably damaging	1.00
BB020:Adam34	UTSW	8	44,103,911 (GRCm39)	missense	probably damaging	1.00
PIT4453001:Adam34	UTSW	8	44,104,349 (GRCm39)	missense	probably damaging	1.00
R0060:Adam34	UTSW	8	44,128,920 (GRCm39)	intron	probably benign
R0317:Adam34	UTSW	8	44,105,288 (GRCm39)	missense	probably benign	0.14
R0322:Adam34	UTSW	8	44,104,958 (GRCm39)	missense	probably benign	0.00
R0427:Adam34	UTSW	8	44,105,493 (GRCm39)	missense	probably benign	0.15
R0837:Adam34	UTSW	8	44,104,537 (GRCm39)	missense	probably benign	0.00
R0927:Adam34	UTSW	8	44,104,621 (GRCm39)	missense	probably damaging	1.00
R1634:Adam34	UTSW	8	44,105,127 (GRCm39)	missense	possibly damaging	0.81
R1653:Adam34	UTSW	8	44,103,682 (GRCm39)	nonsense	probably null
R1826:Adam34	UTSW	8	44,104,379 (GRCm39)	missense	probably damaging	1.00
R1873:Adam34	UTSW	8	44,104,843 (GRCm39)	missense	probably benign	0.02
R1943:Adam34	UTSW	8	44,104,852 (GRCm39)	missense	probably damaging	1.00
R1943:Adam34	UTSW	8	44,103,864 (GRCm39)	missense	possibly damaging	0.48
R2147:Adam34	UTSW	8	44,105,538 (GRCm39)	missense	probably benign	0.01
R2150:Adam34	UTSW	8	44,105,538 (GRCm39)	missense	probably benign	0.01
R2206:Adam34	UTSW	8	44,105,274 (GRCm39)	missense	probably benign	0.02
R2207:Adam34	UTSW	8	44,105,274 (GRCm39)	missense	probably benign	0.02
R2268:Adam34	UTSW	8	44,103,647 (GRCm39)	missense	probably benign	0.00
R2349:Adam34	UTSW	8	44,105,415 (GRCm39)	missense	probably damaging	0.99
R3983:Adam34	UTSW	8	44,103,806 (GRCm39)	missense	probably benign
R4158:Adam34	UTSW	8	44,103,854 (GRCm39)	missense	probably damaging	1.00
R4179:Adam34	UTSW	8	44,104,128 (GRCm39)	missense	probably benign	0.18
R5219:Adam34	UTSW	8	44,104,461 (GRCm39)	missense	probably benign
R5398:Adam34	UTSW	8	44,104,278 (GRCm39)	missense	probably damaging	1.00
R5611:Adam34	UTSW	8	44,104,749 (GRCm39)	missense	probably benign	0.43
R5928:Adam34	UTSW	8	44,105,067 (GRCm39)	missense	probably benign	0.08
R6115:Adam34	UTSW	8	44,105,098 (GRCm39)	missense	probably benign
R6319:Adam34	UTSW	8	44,104,952 (GRCm39)	missense	probably benign	0.01
R6384:Adam34	UTSW	8	44,103,836 (GRCm39)	missense	probably benign	0.00
R6706:Adam34	UTSW	8	44,104,479 (GRCm39)	nonsense	probably null
R6992:Adam34	UTSW	8	44,105,642 (GRCm39)	start codon destroyed	probably null	1.00
R7032:Adam34	UTSW	8	44,105,303 (GRCm39)	missense	probably damaging	1.00
R7151:Adam34	UTSW	8	44,104,499 (GRCm39)	missense	probably benign	0.19
R7187:Adam34	UTSW	8	44,105,565 (GRCm39)	missense	probably benign	0.02
R7223:Adam34	UTSW	8	44,105,041 (GRCm39)	missense	probably benign	0.02
R7487:Adam34	UTSW	8	44,104,191 (GRCm39)	missense	probably damaging	1.00
R7726:Adam34	UTSW	8	44,104,208 (GRCm39)	missense	probably damaging	0.99
R7789:Adam34	UTSW	8	44,105,488 (GRCm39)	missense	probably benign	0.00
R7810:Adam34	UTSW	8	44,105,045 (GRCm39)	missense	probably benign	0.01
R7933:Adam34	UTSW	8	44,103,911 (GRCm39)	missense	probably damaging	1.00
R8192:Adam34	UTSW	8	44,103,970 (GRCm39)	missense	probably damaging	1.00
R8231:Adam34	UTSW	8	44,104,659 (GRCm39)	missense	probably benign
R8238:Adam34	UTSW	8	44,103,993 (GRCm39)	missense	probably damaging	1.00
R8259:Adam34	UTSW	8	44,104,646 (GRCm39)	missense	probably benign	0.03
R8339:Adam34	UTSW	8	44,103,640 (GRCm39)	missense	probably benign	0.20
R8381:Adam34	UTSW	8	44,104,847 (GRCm39)	missense	possibly damaging	0.70
R8670:Adam34	UTSW	8	44,105,126 (GRCm39)	missense	possibly damaging	0.91
R8693:Adam34	UTSW	8	44,104,641 (GRCm39)	missense	probably benign
R8932:Adam34	UTSW	8	44,105,192 (GRCm39)	missense	probably benign	0.19
R8936:Adam34	UTSW	8	44,104,439 (GRCm39)	missense	probably benign	0.00
R8981:Adam34	UTSW	8	44,103,840 (GRCm39)	missense	probably benign	0.05
R9040:Adam34	UTSW	8	44,103,363 (GRCm39)	unclassified	probably benign
R9105:Adam34	UTSW	8	44,103,785 (GRCm39)	missense	probably damaging	1.00
R9305:Adam34	UTSW	8	44,104,416 (GRCm39)	missense	probably damaging	1.00
R9321:Adam34	UTSW	8	44,105,243 (GRCm39)	missense	probably damaging	1.00
R9641:Adam34	UTSW	8	44,104,076 (GRCm39)	missense	probably damaging	0.97
R9644:Adam34	UTSW	8	44,104,766 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TTGCCACACATGGTTGGCATCAGG -3'
(R):5'- TGAGAATTGGTGGACGCATCACAGG -3'

Sequencing Primer
(F):5'- ATATGGGGCCATTATGCAGCTAC -3'
(R):5'- GGACGCATCACAGGTTTATTG -3'

Posted On

2013-07-11