Mutagenetix > Incidental Mutation

Incidental Mutation 'R0925:Adam34l'

83150

Institutional Source

Beutler Lab

Gene Symbol

Adam34l

Ensembl Gene

ENSMUSG00000050190

Gene Name

a disintegrin and metallopeptidase domain 34 like

Synonyms

Gm5346

MMRRC Submission

039072-MU

Accession Numbers

Essential gene?

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

Stock #

R0925 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44077988-44080313 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44079340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 295 (I295V)

Ref Sequence

ENSEMBL: ENSMUSP00000058858 (fasta)

Gene Model

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

AlphaFold

Q7M766

Predicted Effect

probably benign
Transcript: ENSMUST00000056023
AA Change: I295V

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000058858
Gene: ENSMUSG00000050190
AA Change: I295V

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: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	C	8: 25,302,441 (GRCm39)	Q101R	probably benign	Het
C2cd4c	T	C	10: 79,448,584 (GRCm39)	N188D	probably benign	Het
Cdc27	A	G	11: 104,416,875 (GRCm39)		probably null	Het
Cdh11	T	A	8: 103,361,356 (GRCm39)	I661L	probably damaging	Het
Cimip1	T	A	2: 173,367,867 (GRCm39)	S47T	probably benign	Het
Csmd1	A	G	8: 16,760,634 (GRCm39)	I167T	probably benign	Het
Dennd3	T	G	15: 73,405,284 (GRCm39)	F346V	probably damaging	Het
Dis3l	A	T	9: 64,248,412 (GRCm39)	M1K	probably null	Het
Dnajb6	A	T	5: 29,957,398 (GRCm39)	K60I	probably damaging	Het
Dock10	T	A	1: 80,514,657 (GRCm39)	H1421L	probably benign	Het
Elmod3	A	T	6: 72,545,921 (GRCm39)	C274S	probably damaging	Het
Eme1	T	C	11: 94,541,558 (GRCm39)	E88G	probably damaging	Het
Fam227a	A	T	15: 79,505,006 (GRCm39)	M475K	probably benign	Het
Frem2	T	C	3: 53,561,394 (GRCm39)	I1038V	probably benign	Het
Gabpb1	T	A	2: 126,494,185 (GRCm39)	N147Y	probably damaging	Het
Gmnc	A	G	16: 26,779,173 (GRCm39)	L278P	probably benign	Het
Gpr153	A	G	4: 152,366,331 (GRCm39)	T299A	probably benign	Het
H2-M11	T	C	17: 36,858,353 (GRCm39)	V49A	probably benign	Het
Hemgn	T	A	4: 46,397,049 (GRCm39)	K62N	probably damaging	Het
Hormad2	G	A	11: 4,377,297 (GRCm39)	T47M	probably damaging	Het
Iqcf6	A	G	9: 106,504,500 (GRCm39)	T55A	probably benign	Het
Itgam	T	C	7: 127,711,410 (GRCm39)	F705L	probably benign	Het
Klk1	T	A	7: 43,878,240 (GRCm39)		probably null	Het
Myo1f	A	T	17: 33,797,107 (GRCm39)	I123F	probably damaging	Het
Nup58	T	C	14: 60,457,590 (GRCm39)	T538A	probably damaging	Het
Or52j3	T	A	7: 102,836,030 (GRCm39)	L74*	probably null	Het
Or5p81	C	T	7: 108,267,400 (GRCm39)	T259I	probably benign	Het
Pdzd2	C	T	15: 12,399,356 (GRCm39)	R790H	probably damaging	Het
Pigv	T	C	4: 133,389,960 (GRCm39)	K74R	probably benign	Het
Prmt8	T	C	6: 127,674,776 (GRCm39)	K284R	probably benign	Het
Rsl1d1	A	T	16: 11,017,553 (GRCm39)	Y138N	probably damaging	Het
Scara5	AC	ACC	14: 66,000,167 (GRCm39)		probably benign	Het
Smc4	T	A	3: 68,913,548 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,001,992 (GRCm39)	V41I	possibly damaging	Het
Tdrd7	C	A	4: 46,025,758 (GRCm39)	N859K	probably damaging	Het
Vps13d	T	G	4: 144,883,121 (GRCm39)	D824A	probably damaging	Het
Wdfy2	A	T	14: 63,167,675 (GRCm39)		probably null	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
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
R5697:Adam34l	UTSW	8	44,079,616 (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'- ACTTCCATCATGCTTCATGCCCAAG -3'
(R):5'- TCATGCCCAGGAGCAAAACGTC -3'

Sequencing Primer
(F):5'- ATGCTTCATGCCCAAGTTATG -3'
(R):5'- ATCCCCTATGAGAATTGGTGGAC -3'

Posted On

2013-11-08