Mutagenetix > Incidental Mutation

Incidental Mutation 'R5697:Adam34l'

450743

Institutional Source

Beutler Lab

Gene Symbol

Adam34l

Ensembl Gene

ENSMUSG00000050190

Gene Name

a disintegrin and metallopeptidase domain 34 like

Synonyms

Gm5346

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R5697 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44077988-44080313 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44079616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 203 (W203R)

Ref Sequence

ENSEMBL: ENSMUSP00000058858 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056023]

AlphaFold

Q7M766

Predicted Effect

probably damaging
Transcript: ENSMUST00000056023
AA Change: W203R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058858
Gene: ENSMUSG00000050190
AA Change: W203R

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
Pfam:Pep_M12B_propep	39	159	1.3e-18	PFAM
Pfam:Reprolysin_5	205	384	1.1e-15	PFAM
Pfam:Reprolysin_4	205	393	6.2e-9	PFAM
Pfam:Reprolysin	207	397	1.7e-46	PFAM
Pfam:Reprolysin_2	223	389	5.7e-14	PFAM
Pfam:Reprolysin_3	231	352	2.6e-13	PFAM
DISIN	416	491	2.48e-38	SMART
ACR	492	628	3.4e-65	SMART
EGF	634	664	2.69e1	SMART
transmembrane domain	685	707	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	T	C	14: 29,713,630 (GRCm39)	F550S	possibly damaging	Het
Adamts15	G	A	9: 30,823,090 (GRCm39)	T326I	probably damaging	Het
Akap9	T	C	5: 4,010,170 (GRCm39)	L309P	possibly damaging	Het
Arfgef1	T	C	1: 10,231,063 (GRCm39)	M1149V	probably benign	Het
Atp6v0a4	C	T	6: 38,027,442 (GRCm39)		probably null	Het
Capn9	C	T	8: 125,315,810 (GRCm39)	H39Y	unknown	Het
Ccn2	A	G	10: 24,473,354 (GRCm39)	T298A	probably benign	Het
Celsr2	G	A	3: 108,311,237 (GRCm39)	Q1425*	probably null	Het
Chd6	A	G	2: 160,859,971 (GRCm39)	L610P	probably damaging	Het
Clasp2	A	T	9: 113,689,190 (GRCm39)	T424S	probably benign	Het
Clec5a	T	C	6: 40,559,204 (GRCm39)	D35G	probably benign	Het
Dnhd1	T	G	7: 105,323,395 (GRCm39)	V599G	probably damaging	Het
Enpep	T	C	3: 129,102,772 (GRCm39)	T395A	probably benign	Het
Evc2	G	T	5: 37,527,952 (GRCm39)	L320F	probably damaging	Het
H2bc22	C	T	13: 21,971,961 (GRCm39)		probably null	Het
Hivep3	C	T	4: 119,954,152 (GRCm39)	H823Y	possibly damaging	Het
Ighv1-59	C	T	12: 115,298,968 (GRCm39)	E29K	possibly damaging	Het
Itsn1	A	G	16: 91,598,477 (GRCm39)	I137V	possibly damaging	Het
Kntc1	A	G	5: 123,903,070 (GRCm39)	T316A	probably benign	Het
Map4k5	T	C	12: 69,877,210 (GRCm39)	T312A	probably benign	Het
Megf6	G	T	4: 154,342,686 (GRCm39)	A642S	probably null	Het
Mrgprb3	G	T	7: 48,292,673 (GRCm39)	L293M	probably damaging	Het
Nes	A	G	3: 87,885,155 (GRCm39)	E1138G	probably damaging	Het
Niban1	T	C	1: 151,576,012 (GRCm39)	F379L	probably damaging	Het
Pias2	A	G	18: 77,220,884 (GRCm39)	K373R	probably damaging	Het
Prss23	A	G	7: 89,159,190 (GRCm39)	F293S	probably damaging	Het
Pzp	A	G	6: 128,502,152 (GRCm39)	Y66H	probably benign	Het
Rnf213	A	G	11: 119,374,720 (GRCm39)	R5061G	possibly damaging	Het
Sergef	A	G	7: 46,288,683 (GRCm39)		probably benign	Het
Slc7a1	A	G	5: 148,270,792 (GRCm39)	V558A	probably benign	Het
Smc2	A	G	4: 52,459,045 (GRCm39)	E480G	probably benign	Het
Smyd3	T	G	1: 179,239,247 (GRCm39)	K111T	probably damaging	Het
Tchh	A	T	3: 93,352,350 (GRCm39)	R597*	probably null	Het
Ttc6	G	T	12: 57,724,000 (GRCm39)	V1043L	probably benign	Het
Vmn1r10	T	G	6: 57,090,474 (GRCm39)	L22R	probably damaging	Het
Vmn2r56	T	C	7: 12,449,917 (GRCm39)	D107G	probably damaging	Het
Zfp1005	C	T	2: 150,111,394 (GRCm39)	H695Y	possibly damaging	Het
Zfp365	A	G	10: 67,745,470 (GRCm39)	Y103H	probably benign	Het
Zfp39	G	T	11: 58,780,661 (GRCm39)	H700Q	probably benign	Het
Zfp982	A	T	4: 147,597,046 (GRCm39)	E134D	probably benign	Het

Other mutations in Adam34l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Adam34l	APN	8	44,078,418 (GRCm39)	missense	probably benign	0.12
IGL00391:Adam34l	APN	8	44,078,666 (GRCm39)	missense	probably damaging	1.00
IGL00422:Adam34l	APN	8	44,079,388 (GRCm39)	missense	probably damaging	1.00
IGL00664:Adam34l	APN	8	44,079,006 (GRCm39)	missense	probably benign
IGL01095:Adam34l	APN	8	44,079,133 (GRCm39)	missense	probably benign	0.22
IGL01113:Adam34l	APN	8	44,079,189 (GRCm39)	missense	probably damaging	1.00
IGL01444:Adam34l	APN	8	44,079,470 (GRCm39)	missense	probably benign	0.06
IGL01782:Adam34l	APN	8	44,079,772 (GRCm39)	missense	probably benign	0.01
IGL01921:Adam34l	APN	8	44,078,548 (GRCm39)	missense	probably damaging	0.96
IGL01964:Adam34l	APN	8	44,079,798 (GRCm39)	missense	probably benign	0.00
IGL02139:Adam34l	APN	8	44,078,615 (GRCm39)	missense	probably benign	0.01
IGL02555:Adam34l	APN	8	44,078,305 (GRCm39)	missense	probably damaging	1.00
IGL02951:Adam34l	APN	8	44,080,125 (GRCm39)	missense	possibly damaging	0.62
R0056:Adam34l	UTSW	8	44,078,540 (GRCm39)	nonsense	probably null
R0218:Adam34l	UTSW	8	44,079,477 (GRCm39)	missense	probably benign	0.00
R0530:Adam34l	UTSW	8	44,079,568 (GRCm39)	missense	probably benign	0.00
R0925:Adam34l	UTSW	8	44,079,340 (GRCm39)	missense	probably benign	0.11
R0927:Adam34l	UTSW	8	44,078,160 (GRCm39)	missense	probably benign	0.00
R0975:Adam34l	UTSW	8	44,078,155 (GRCm39)	missense	probably benign
R1300:Adam34l	UTSW	8	44,079,881 (GRCm39)	nonsense	probably null
R1728:Adam34l	UTSW	8	44,078,620 (GRCm39)	missense	probably damaging	1.00
R1729:Adam34l	UTSW	8	44,078,620 (GRCm39)	missense	probably damaging	1.00
R1801:Adam34l	UTSW	8	44,078,954 (GRCm39)	nonsense	probably null
R1869:Adam34l	UTSW	8	44,078,132 (GRCm39)	nonsense	probably null
R1870:Adam34l	UTSW	8	44,078,132 (GRCm39)	nonsense	probably null
R1871:Adam34l	UTSW	8	44,078,132 (GRCm39)	nonsense	probably null
R1992:Adam34l	UTSW	8	44,080,176 (GRCm39)	missense	probably benign	0.44
R2008:Adam34l	UTSW	8	44,080,074 (GRCm39)	missense	probably benign	0.00
R2013:Adam34l	UTSW	8	44,079,442 (GRCm39)	missense	possibly damaging	0.81
R2022:Adam34l	UTSW	8	44,078,954 (GRCm39)	nonsense	probably null
R2175:Adam34l	UTSW	8	44,078,475 (GRCm39)	missense	probably benign
R2875:Adam34l	UTSW	8	44,080,177 (GRCm39)	nonsense	probably null
R3406:Adam34l	UTSW	8	44,079,089 (GRCm39)	nonsense	probably null
R3845:Adam34l	UTSW	8	44,079,669 (GRCm39)	missense	probably benign	0.00
R4033:Adam34l	UTSW	8	44,079,710 (GRCm39)	missense	probably benign	0.28
R4072:Adam34l	UTSW	8	44,079,387 (GRCm39)	missense	probably damaging	1.00
R4074:Adam34l	UTSW	8	44,079,387 (GRCm39)	missense	probably damaging	1.00
R4075:Adam34l	UTSW	8	44,079,387 (GRCm39)	missense	probably damaging	1.00
R4076:Adam34l	UTSW	8	44,079,387 (GRCm39)	missense	probably damaging	1.00
R4153:Adam34l	UTSW	8	44,079,564 (GRCm39)	missense	probably benign	0.04
R4330:Adam34l	UTSW	8	44,079,287 (GRCm39)	missense	probably benign
R4612:Adam34l	UTSW	8	44,079,587 (GRCm39)	missense	probably benign	0.09
R4662:Adam34l	UTSW	8	44,080,116 (GRCm39)	missense	probably benign	0.26
R5032:Adam34l	UTSW	8	44,079,508 (GRCm39)	missense	probably damaging	1.00
R5077:Adam34l	UTSW	8	44,080,200 (GRCm39)	missense	possibly damaging	0.79
R5504:Adam34l	UTSW	8	44,078,319 (GRCm39)	missense	probably damaging	1.00
R6232:Adam34l	UTSW	8	44,078,949 (GRCm39)	missense	probably benign	0.00
R6233:Adam34l	UTSW	8	44,078,949 (GRCm39)	missense	probably benign	0.00
R6234:Adam34l	UTSW	8	44,078,949 (GRCm39)	missense	probably benign	0.00
R6235:Adam34l	UTSW	8	44,078,949 (GRCm39)	missense	probably benign	0.00
R6241:Adam34l	UTSW	8	44,079,133 (GRCm39)	missense	probably benign	0.22
R6392:Adam34l	UTSW	8	44,079,038 (GRCm39)	missense	probably benign	0.09
R6439:Adam34l	UTSW	8	44,078,988 (GRCm39)	missense	probably damaging	1.00
R6454:Adam34l	UTSW	8	44,079,845 (GRCm39)	missense	probably damaging	0.96
R6455:Adam34l	UTSW	8	44,079,189 (GRCm39)	missense	probably damaging	1.00
R6767:Adam34l	UTSW	8	44,079,951 (GRCm39)	missense	probably damaging	1.00
R6774:Adam34l	UTSW	8	44,078,220 (GRCm39)	missense	probably benign	0.00
R6877:Adam34l	UTSW	8	44,078,274 (GRCm39)	missense	probably benign	0.02
R6911:Adam34l	UTSW	8	44,078,146 (GRCm39)	missense	probably benign	0.02
R7211:Adam34l	UTSW	8	44,078,914 (GRCm39)	missense	probably damaging	1.00
R7597:Adam34l	UTSW	8	44,078,281 (GRCm39)	missense	probably damaging	1.00
R7602:Adam34l	UTSW	8	44,079,703 (GRCm39)	missense	probably damaging	0.99
R7797:Adam34l	UTSW	8	44,079,411 (GRCm39)	missense	probably benign	0.04
R7981:Adam34l	UTSW	8	44,078,850 (GRCm39)	missense	probably damaging	1.00
R8154:Adam34l	UTSW	8	44,078,424 (GRCm39)	missense	probably damaging	0.97
R8215:Adam34l	UTSW	8	44,079,538 (GRCm39)	missense	probably benign	0.05
R9180:Adam34l	UTSW	8	44,079,970 (GRCm39)	nonsense	probably null
R9307:Adam34l	UTSW	8	44,079,304 (GRCm39)	missense	probably benign	0.00
R9733:Adam34l	UTSW	8	44,079,186 (GRCm39)	missense	possibly damaging	0.94
RF001:Adam34l	UTSW	8	44,079,942 (GRCm39)	missense	possibly damaging	0.79
Z1177:Adam34l	UTSW	8	44,079,583 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATCTAGGGCCGCTGACATTTC -3'
(R):5'- TGAAATCATGCCCAGGAGC -3'

Sequencing Primer
(F):5'- TTTTGACTCCAAACTTCAACTTTGG -3'
(R):5'- CAGGAGCAAAACGTCAACATTTG -3'

Posted On

2017-01-03