Mutagenetix > Incidental Mutation

Incidental Mutation 'R8231:Adam34'

637146

Institutional Source

Beutler Lab

Gene Symbol

Adam34

Ensembl Gene

ENSMUSG00000079058

Gene Name

a disintegrin and metallopeptidase domain 34

Synonyms

testase 4

MMRRC Submission

067663-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R8231 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44103346-44118597 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44104659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 329 (S329T)

Ref Sequence

ENSEMBL: ENSMUSP00000106041 (fasta)

Gene Model

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

AlphaFold

A2RSG8

Predicted Effect

probably benign
Transcript: ENSMUST00000110411
AA Change: S329T

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

SMART Domains

Protein: ENSMUSP00000106041
Gene: ENSMUSG00000079058
AA Change: S329T

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: S329T

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	C	T	17: 85,000,213 (GRCm39)	R258C	probably damaging	Het
Acsf2	C	G	11: 94,452,188 (GRCm39)	E451D	probably benign	Het
Adamts16	A	G	13: 70,925,599 (GRCm39)	I535T	probably damaging	Het
Atp6v0d2	A	G	4: 19,881,451 (GRCm39)	F214S	probably damaging	Het
Btg4	A	G	9: 51,027,868 (GRCm39)	T13A	possibly damaging	Het
Ccdc121	T	A	5: 31,643,551 (GRCm39)	C94S	probably benign	Het
Cplane1	T	C	15: 8,248,511 (GRCm39)	Y1687H	probably benign	Het
Csmd1	A	T	8: 16,747,939 (GRCm39)	S271T	possibly damaging	Het
Cul9	T	C	17: 46,831,427 (GRCm39)	T1596A	probably damaging	Het
Cyp2a4	G	A	7: 26,012,362 (GRCm39)	D382N	probably benign	Het
Dbh	C	T	2: 27,060,555 (GRCm39)	R244C	probably benign	Het
Dennd11	A	T	6: 40,395,546 (GRCm39)	H187Q	probably benign	Het
Dnajc2	T	C	5: 21,966,689 (GRCm39)	K426R	probably benign	Het
Dock4	T	A	12: 40,752,950 (GRCm39)	M428K	possibly damaging	Het
Duox2	A	T	2: 122,120,044 (GRCm39)	M822K	possibly damaging	Het
Golga5	T	C	12: 102,438,558 (GRCm39)	V91A	probably benign	Het
Gpatch2l	T	C	12: 86,290,963 (GRCm39)	S49P	probably damaging	Het
Ints7	T	A	1: 191,328,465 (GRCm39)	L246*	probably null	Het
Kntc1	A	G	5: 123,920,959 (GRCm39)	T926A	possibly damaging	Het
Kyat1	T	C	2: 30,081,978 (GRCm39)	T54A	probably benign	Het
Megf6	C	G	4: 154,336,975 (GRCm39)	C359W	probably damaging	Het
Mlh3	A	G	12: 85,307,572 (GRCm39)		probably null	Het
Neb	C	A	2: 52,125,491 (GRCm39)		probably null	Het
Nyap2	A	T	1: 81,169,846 (GRCm39)	Q201L	probably benign	Het
Pibf1	T	G	14: 99,423,997 (GRCm39)	H523Q	probably benign	Het
Piezo1	A	G	8: 123,232,836 (GRCm39)	S133P		Het
Pnma8b	T	C	7: 16,680,515 (GRCm39)	C500R	probably benign	Het
Ptpra	A	G	2: 130,379,523 (GRCm39)	N359S	probably damaging	Het
Rce1	A	T	19: 4,675,078 (GRCm39)	I112N	probably damaging	Het
Rmdn1	T	C	4: 19,586,853 (GRCm39)	Y104H	probably benign	Het
Snx22	A	T	9: 65,975,480 (GRCm39)	D96E	probably benign	Het
Sox5	G	T	6: 143,974,014 (GRCm39)	Q245K	probably damaging	Het
Stat6	A	G	10: 127,482,842 (GRCm39)	D21G	possibly damaging	Het
Tbc1d15	T	C	10: 115,065,045 (GRCm39)	Y180C	probably damaging	Het
Tdrd6	T	C	17: 43,933,026 (GRCm39)	T2058A	probably damaging	Het
Thbs4	A	T	13: 92,911,352 (GRCm39)	V277E	probably benign	Het
Tmem255b	A	G	8: 13,504,225 (GRCm39)	D139G	probably damaging	Het
Ttc27	C	A	17: 75,024,959 (GRCm39)	T18K	probably benign	Het
Zfp131	A	G	13: 120,237,348 (GRCm39)	F337L	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
R0593:Adam34	UTSW	8	44,104,724 (GRCm39)	missense	possibly damaging	0.87
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
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'- GCATCTGGAATATCATACAAGCAAC -3'
(R):5'- CTGATGTGGTTTTGACCAAACTTG -3'

Sequencing Primer
(F):5'- CATACAAGCAACTTCTTTTGGTAAC -3'
(R):5'- CGATTGGCAATCGTGTT -3'

Posted On

2020-07-13