Mutagenetix > Incidental Mutation

Incidental Mutation 'R4072:Adam34l'

316345

Institutional Source

Beutler Lab

Gene Symbol

Adam34l

Ensembl Gene

ENSMUSG00000050190

Gene Name

a disintegrin and metallopeptidase domain 34 like

Synonyms

Gm5346

MMRRC Submission

040854-MU

Accession Numbers

Essential gene?

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

Stock #

R4072 (G1)

Quality Score

225

Status

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: 97.4%
20x: 95.6%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,922,342 (GRCm39)		probably null	Het
Abcc5	A	G	16: 20,152,445 (GRCm39)	I1367T	probably damaging	Het
Acsm4	T	A	7: 119,297,981 (GRCm39)	L206H	probably benign	Het
Acss3	C	T	10: 106,959,446 (GRCm39)		probably benign	Het
Ankar	G	T	1: 72,727,751 (GRCm39)	D169E	probably damaging	Het
Arfgap3	C	T	15: 83,187,330 (GRCm39)	A510T	probably damaging	Het
Atp4a	T	C	7: 30,414,757 (GRCm39)	I182T	probably benign	Het
Axl	A	G	7: 25,463,336 (GRCm39)		probably benign	Het
Baz1a	A	G	12: 54,988,345 (GRCm39)	I268T	probably benign	Het
Baz2b	A	T	2: 59,742,917 (GRCm39)		probably null	Het
C2cd4d	C	A	3: 94,271,185 (GRCm39)	C150*	probably null	Het
Crtac1	T	C	19: 42,293,146 (GRCm39)	Y321C	probably damaging	Het
Dnah11	T	C	12: 118,070,227 (GRCm39)	H1526R	probably damaging	Het
Dnah5	A	T	15: 28,340,444 (GRCm39)	R2284*	probably null	Het
Dnah9	T	C	11: 65,975,730 (GRCm39)	T1440A	probably benign	Het
Eps15l1	A	G	8: 73,134,128 (GRCm39)	I482T	probably damaging	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
Eva1c	T	A	16: 90,701,019 (GRCm39)	F331Y	probably damaging	Het
Fcho1	T	C	8: 72,163,013 (GRCm39)	H672R	probably damaging	Het
Galntl5	A	T	5: 25,403,478 (GRCm39)	K150*	probably null	Het
Gm19965	A	G	1: 116,748,801 (GRCm39)	T161A	probably benign	Het
Hydin	G	A	8: 111,231,888 (GRCm39)	E1617K	possibly damaging	Het
Krtap31-1	T	C	11: 99,799,058 (GRCm39)	I87T	possibly damaging	Het
Lamp3	A	G	16: 19,519,466 (GRCm39)	L239P	possibly damaging	Het
Nlrp4c	A	G	7: 6,075,709 (GRCm39)	K667E	probably benign	Het
Obox3	G	T	7: 15,359,724 (GRCm39)	T315N	possibly damaging	Het
Obscn	A	G	11: 58,888,009 (GRCm39)	I7652T	unknown	Het
Or52e18	A	T	7: 104,609,923 (GRCm39)	N5K	probably damaging	Het
Or5b3	G	A	19: 13,388,299 (GRCm39)	R122H	possibly damaging	Het
Or8u8	T	A	2: 86,011,991 (GRCm39)	M155L	probably benign	Het
Pde7a	G	A	3: 19,311,017 (GRCm39)	R70C	probably damaging	Het
Pidd1	A	G	7: 141,020,739 (GRCm39)	F453L	probably damaging	Het
Pms2	T	C	5: 143,865,819 (GRCm39)	I742T	probably damaging	Het
Pot1a	T	C	6: 25,752,356 (GRCm39)		probably null	Het
Pramel33	A	T	5: 93,633,057 (GRCm39)	M50K	probably damaging	Het
Rp1l1	A	T	14: 64,265,581 (GRCm39)	E389V	probably damaging	Het
Scnn1a	A	G	6: 125,315,870 (GRCm39)	N407S	probably damaging	Het
Slc30a7	T	C	3: 115,740,329 (GRCm39)	D374G	probably damaging	Het
Slco2a1	T	A	9: 102,945,201 (GRCm39)	I192N	probably damaging	Het
Srp72	C	A	5: 77,146,098 (GRCm39)	T633K	probably benign	Het
Tm2d3	T	A	7: 65,347,498 (GRCm39)	L49*	probably null	Het
Tmprss11e	T	C	5: 86,863,502 (GRCm39)	T188A	possibly damaging	Het
Tox	T	C	4: 6,842,396 (GRCm39)	T45A	probably damaging	Het
Usp31	A	G	7: 121,267,005 (GRCm39)		probably null	Het
Vwc2	T	A	11: 11,066,446 (GRCm39)	L178Q	probably 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

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
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'- GCTACGATGAATGCCAGATATG -3'
(R):5'- AATTGGTGGACCCATCACAGG -3'

Sequencing Primer
(F):5'- TACGATGAATGCCAGATATGATAACG -3'
(R):5'- TGGACCCATCACAGGTTTATTG -3'

Posted On

2015-05-15