Mutagenetix > Incidental Mutation

Incidental Mutation 'R8981:Adam34'

683733

Institutional Source

Beutler Lab

Gene Symbol

Adam34

Ensembl Gene

ENSMUSG00000079058

Gene Name

a disintegrin and metallopeptidase domain 34

Synonyms

testase 4

MMRRC Submission

068814-MU

Accession Numbers

Essential gene?

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

Stock #

R8981 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44103346-44118597 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44103840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 602 (I602L)

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: I602L

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000106041
Gene: ENSMUSG00000079058
AA Change: I602L

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: I602L

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb2	C	T	13: 8,751,653 (GRCm39)	R473C	probably damaging	Het
Arrdc3	A	G	13: 81,038,669 (GRCm39)	I210M	probably damaging	Het
C1qb	T	C	4: 136,608,033 (GRCm39)	D110G	probably benign	Het
Ccdc86	CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA	CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA	19: 10,926,162 (GRCm39)		probably benign	Het
Ces1d	A	G	8: 93,919,457 (GRCm39)	F112L	probably benign	Het
Cyp2j13	T	A	4: 95,965,527 (GRCm39)	D60V	possibly damaging	Het
Dcun1d5	T	A	9: 7,189,205 (GRCm39)	M98K	probably damaging	Het
Ecpas	T	A	4: 58,801,796 (GRCm39)	T1774S	probably benign	Het
Exosc7	T	C	9: 122,942,365 (GRCm39)	V12A	probably benign	Het
Fcrl2	T	C	3: 87,164,677 (GRCm39)	Y283C	probably damaging	Het
Fgd6	A	G	10: 93,880,916 (GRCm39)	D590G	possibly damaging	Het
Gne	T	C	4: 44,042,261 (GRCm39)	N469S	probably benign	Het
Ipo11	A	T	13: 107,061,633 (GRCm39)	V9E	probably benign	Het
Mad1l1	T	C	5: 140,300,813 (GRCm39)	T28A	probably benign	Het
Mcoln3	A	G	3: 145,827,554 (GRCm39)	N3D	probably benign	Het
Mprip	A	G	11: 59,622,383 (GRCm39)	K157E	probably damaging	Het
Mthfr	A	T	4: 148,139,451 (GRCm39)	I588F	probably benign	Het
Mup15	A	T	4: 61,357,825 (GRCm39)	C15*	probably null	Het
Myom1	A	G	17: 71,391,316 (GRCm39)	T942A	probably benign	Het
Myorg	T	C	4: 41,498,209 (GRCm39)	S474G	possibly damaging	Het
Or10ag55-ps1	T	C	2: 87,115,561 (GRCm39)	M309T	probably benign	Het
Or2d3b	T	C	7: 106,513,590 (GRCm39)	F62L	probably benign	Het
Phf11c	G	A	14: 59,628,412 (GRCm39)	S79L	possibly damaging	Het
Pogz	T	A	3: 94,786,226 (GRCm39)	V938D	probably damaging	Het
Ppip5k1	C	T	2: 121,158,121 (GRCm39)		probably benign	Het
Pramel11	T	A	4: 143,623,646 (GRCm39)	N176I	probably benign	Het
Resf1	G	A	6: 149,227,997 (GRCm39)	V348I	probably benign	Het
Ric3	T	C	7: 108,657,043 (GRCm39)	I100V	probably damaging	Het
Rptor	T	G	11: 119,734,508 (GRCm39)	S504A	possibly damaging	Het
Slc40a1	T	C	1: 45,948,580 (GRCm39)	T567A	probably benign	Het
Slfn14	A	T	11: 83,174,455 (GRCm39)	F179I	possibly damaging	Het
Spata31f1a	T	C	4: 42,849,354 (GRCm39)	H934R	probably benign	Het
Susd1	A	G	4: 59,380,883 (GRCm39)	V326A	probably benign	Het
Thsd7b	T	C	1: 129,523,187 (GRCm39)	W74R	possibly damaging	Het
Ugt3a1	T	G	15: 9,312,014 (GRCm39)	S419A	probably benign	Het
Vac14	A	G	8: 111,438,226 (GRCm39)	E613G	probably damaging	Het
Vmn1r220	C	A	13: 23,368,423 (GRCm39)	R91L	probably damaging	Het
Vrk1	C	T	12: 106,036,953 (GRCm39)		probably benign	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
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
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'- ATACTACCTCCATGGCCACGTAG -3'
(R):5'- GACCGCTTTGGAAACTGTGG -3'

Sequencing Primer
(F):5'- ATGGCCACGTAGTTGACAGTC -3'
(R):5'- CTTTGGAAACTGTGGCAATGATAGC -3'

Posted On

2021-10-11