Mutagenetix > Incidental Mutation

Incidental Mutation 'R4075:Adam34l'

316526

Institutional Source

Beutler Lab

Gene Symbol

Adam34l

Ensembl Gene

ENSMUSG00000050190

Gene Name

a disintegrin and metallopeptidase domain 34 like

Synonyms

Gm5346

MMRRC Submission

040974-MU

Accession Numbers

Essential gene?

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

Stock #

R4075 (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 44079387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 279 (F279Y)

Ref Sequence

ENSEMBL: ENSMUSP00000058858 (fasta)

Gene Model

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

AlphaFold

Q7M766

Predicted Effect

probably damaging
Transcript: ENSMUST00000056023
AA Change: F279Y

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

SMART Domains

Protein: ENSMUSP00000058858
Gene: ENSMUSG00000050190
AA Change: F279Y

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	T	A	7: 119,297,981 (GRCm39)	L206H	probably benign	Het
Adgrf5	T	G	17: 43,761,086 (GRCm39)	V927G	probably damaging	Het
Agtr1a	A	G	13: 30,565,817 (GRCm39)	N294S	probably damaging	Het
Aspm	T	C	1: 139,402,023 (GRCm39)	L1229S	probably damaging	Het
Chmp7	A	T	14: 69,969,730 (GRCm39)	V70E	probably damaging	Het
Cnot10	A	G	9: 114,452,015 (GRCm39)	F254L	possibly damaging	Het
Cubn	A	G	2: 13,318,810 (GRCm39)	V2963A	possibly damaging	Het
Depp1	A	G	6: 116,629,029 (GRCm39)	N124S	possibly damaging	Het
Dnah5	T	A	15: 28,293,937 (GRCm39)	D1347E	probably benign	Het
Dsg1a	T	G	18: 20,473,127 (GRCm39)	N733K	possibly damaging	Het
Dst	A	G	1: 34,231,350 (GRCm39)	E2656G	probably benign	Het
Egf	C	T	3: 129,529,618 (GRCm39)	R264Q	probably benign	Het
Eqtn	A	G	4: 94,808,199 (GRCm39)	I201T	possibly damaging	Het
Ercc4	G	A	16: 12,948,549 (GRCm39)	V499I	probably damaging	Het
Fsip2	C	T	2: 82,813,245 (GRCm39)	S3188L	probably benign	Het
Herc1	A	G	9: 66,325,774 (GRCm39)	D1416G	probably benign	Het
Hormad1	T	C	3: 95,485,514 (GRCm39)	M234T	possibly damaging	Het
Ifi44	A	T	3: 151,451,613 (GRCm39)	N164K	probably benign	Het
Ikzf3	G	T	11: 98,358,469 (GRCm39)	Y289*	probably null	Het
Il17rc	A	G	6: 113,458,158 (GRCm39)	D327G	possibly damaging	Het
Lamp3	A	G	16: 19,519,466 (GRCm39)	L239P	possibly damaging	Het
Lce1l	C	T	3: 92,757,540 (GRCm39)	S106N	unknown	Het
Lrig3	C	T	10: 125,849,277 (GRCm39)	T999I	probably benign	Het
Map4k4	T	C	1: 40,062,622 (GRCm39)	Y1196H	probably damaging	Het
Mtr	C	A	13: 12,230,298 (GRCm39)		probably null	Het
Nlrp4c	A	G	7: 6,075,709 (GRCm39)	K667E	probably benign	Het
Nxt1	A	G	2: 148,517,652 (GRCm39)	D131G	probably damaging	Het
Obox3	G	T	7: 15,359,724 (GRCm39)	T315N	possibly damaging	Het
Or52e18	A	T	7: 104,609,923 (GRCm39)	N5K	probably damaging	Het
Or5bw2	T	C	7: 6,573,142 (GRCm39)	S51P	probably benign	Het
Pcdh7	A	G	5: 57,879,150 (GRCm39)	R902G	probably damaging	Het
Pidd1	A	G	7: 141,020,739 (GRCm39)	F453L	probably damaging	Het
Ptpn1	T	A	2: 167,818,433 (GRCm39)		probably null	Het
Rev1	T	G	1: 38,093,319 (GRCm39)	K1075T	possibly damaging	Het
Slc28a2b	T	G	2: 122,344,892 (GRCm39)	V166G	probably benign	Het
Slco1a5	A	T	6: 142,213,950 (GRCm39)	I57K	possibly damaging	Het
Ssrp1	A	C	2: 84,875,912 (GRCm39)	K590N	possibly damaging	Het
Svs5	T	C	2: 164,079,238 (GRCm39)	E223G	probably benign	Het
Tab3	G	T	X: 84,658,063 (GRCm39)	V197F	probably damaging	Het
Tm2d3	T	A	7: 65,347,498 (GRCm39)	L49*	probably null	Het
Usp31	A	G	7: 121,267,005 (GRCm39)		probably null	Het
Vmn2r24	A	T	6: 123,764,374 (GRCm39)	H417L	possibly damaging	Het
Zbbx	C	T	3: 75,012,978 (GRCm39)	G151E	probably damaging	Het
Zbtb11	C	T	16: 55,818,427 (GRCm39)	T617I	possibly damaging	Het
Zfp677	T	C	17: 21,618,421 (GRCm39)	Y493H	probably damaging	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
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'- CATGTGCTACGATGAATGCCAG -3'
(R):5'- GTGGACCCATCACAGGTTTATTG -3'

Sequencing Primer
(F):5'- TGTGCTACGATGAATGCCAGATATG -3'
(R):5'- TGTTGCAAGTAGTCAATGG -3'

Posted On

2015-05-15