Mutagenetix > Incidental Mutation

Incidental Mutation 'R6235:Adam34l'

504874

Institutional Source

Beutler Lab

Gene Symbol

Adam34l

Ensembl Gene

ENSMUSG00000050190

Gene Name

a disintegrin and metallopeptidase domain 34 like

Synonyms

Gm5346

MMRRC Submission

044433-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R6235 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43624951-43627276 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 43625912 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 425 (N425T)

Ref Sequence

ENSEMBL: ENSMUSP00000058858 (fasta)

Gene Model

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

AlphaFold

Q7M766

Predicted Effect

probably benign
Transcript: ENSMUST00000056023
AA Change: N425T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000058858
Gene: ENSMUSG00000050190
AA Change: N425T

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

Validation Efficiency

95% (73/77)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	T	C	12: 113,491,710 (GRCm38)	F716L	probably benign	Het
Akip1	A	G	7: 109,707,413 (GRCm38)	M106V	probably benign	Het
Aldh1l1	A	T	6: 90,564,457 (GRCm38)	I278F	probably benign	Het
Aplnr	A	G	2: 85,137,626 (GRCm38)	T332A	probably benign	Het
Aqp4	A	G	18: 15,398,113 (GRCm38)	V197A	probably damaging	Het
Arid4a	A	T	12: 71,069,772 (GRCm38)		probably null	Het
Baiap2	A	T	11: 119,981,408 (GRCm38)	N99Y	probably damaging	Het
Ceacam1	A	T	7: 25,471,792 (GRCm38)		probably null	Het
Cep78	T	C	19: 15,976,486 (GRCm38)		probably null	Het
Cldn3	T	C	5: 134,986,719 (GRCm38)	F92S	possibly damaging	Het
Clec16a	C	A	16: 10,694,635 (GRCm38)	P812Q	probably damaging	Het
Cnga4	T	G	7: 105,407,699 (GRCm38)	Y336*	probably null	Het
Copg2	A	G	6: 30,816,071 (GRCm38)	I443T	probably damaging	Het
Crhbp	C	A	13: 95,443,850 (GRCm38)	A81S	probably damaging	Het
Csad	A	T	15: 102,178,606 (GRCm38)	V410D	probably damaging	Het
Ctps1	G	A	4: 120,558,806 (GRCm38)	L207F	probably benign	Het
Dab2ip	A	G	2: 35,723,087 (GRCm38)	E1003G	probably damaging	Het
Ddx31	C	G	2: 28,844,842 (GRCm38)	A5G	probably benign	Het
Dnah12	A	T	14: 26,854,804 (GRCm38)	I3004F	probably damaging	Het
Fbxo15	A	G	18: 84,980,904 (GRCm38)		probably benign	Het
Fbxw28	C	A	9: 109,326,190 (GRCm38)	W356C	probably damaging	Het
Gimap6	G	T	6: 48,702,457 (GRCm38)	T215K	probably benign	Het
Hspa4	C	T	11: 53,262,939 (GRCm38)	E702K	probably benign	Het
Hunk	A	G	16: 90,432,706 (GRCm38)	I152V	probably damaging	Het
Itk	T	C	11: 46,336,428 (GRCm38)	E456G	probably benign	Het
Krt40	G	A	11: 99,543,094 (GRCm38)	A22V	possibly damaging	Het
Lars2	T	C	9: 123,411,880 (GRCm38)	V204A	probably damaging	Het
Lipo3	A	G	19: 33,783,563 (GRCm38)	Y140H	probably damaging	Het
Lrp1	G	A	10: 127,588,177 (GRCm38)	R809W	probably damaging	Het
Magi3	C	T	3: 104,016,068 (GRCm38)	G1111D	probably damaging	Het
Mis18bp1	A	T	12: 65,158,408 (GRCm38)	V47E	probably damaging	Het
Mpdz	T	C	4: 81,385,281 (GRCm38)	E140G	probably damaging	Het
Myo1d	T	C	11: 80,692,944 (GRCm38)	I81V	probably benign	Het
Nek10	T	A	14: 14,821,113 (GRCm38)	Y26*	probably null	Het
Ntng2	C	A	2: 29,227,979 (GRCm38)	E152D	probably damaging	Het
Or10w1	C	A	19: 13,654,781 (GRCm38)	C117*	probably null	Het
Or5m9b	T	C	2: 86,075,166 (GRCm38)	L142P	possibly damaging	Het
Otud3	A	T	4: 138,901,901 (GRCm38)	V185D	probably damaging	Het
Parp6	C	T	9: 59,630,815 (GRCm38)	R248W	probably benign	Het
Pcdhga7	A	G	18: 37,716,430 (GRCm38)	T497A	probably benign	Het
Ppp1r18	A	G	17: 35,873,877 (GRCm38)	E140G	probably damaging	Het
Prl3b1	T	C	13: 27,247,945 (GRCm38)	L151P	probably damaging	Het
Pth1r	C	T	9: 110,722,316 (GRCm38)	E572K	possibly damaging	Het
Ptprq	T	A	10: 107,635,338 (GRCm38)	T1401S	possibly damaging	Het
Rad51ap2	A	G	12: 11,457,516 (GRCm38)	T480A	possibly damaging	Het
Rax	T	A	18: 65,935,161 (GRCm38)	Q291L	unknown	Het
Reck	T	C	4: 43,937,450 (GRCm38)	L734P	probably damaging	Het
Rgmb	A	G	17: 15,820,819 (GRCm38)	F169L	probably damaging	Het
Rhobtb3	T	C	13: 75,892,910 (GRCm38)	I426M	probably damaging	Het
Ring1	C	A	17: 34,023,306 (GRCm38)	A76S	probably damaging	Het
Robo3	T	G	9: 37,420,929 (GRCm38)	Y891S	probably damaging	Het
Rpusd2	A	G	2: 119,034,857 (GRCm38)	I12V	probably benign	Het
Rragd	T	C	4: 32,995,985 (GRCm38)	V165A	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909 (GRCm38)		probably benign	Homo
Ryr1	G	T	7: 29,116,181 (GRCm38)	Q95K	probably benign	Het
S1pr4	T	A	10: 81,498,882 (GRCm38)	N253Y	possibly damaging	Het
Scn3a	A	C	2: 65,461,335 (GRCm38)	V1689G	probably damaging	Het
Sdhb	A	G	4: 140,973,673 (GRCm38)	N147D	probably damaging	Het
Sdk1	A	T	5: 142,034,426 (GRCm38)	H913L	possibly damaging	Het
Serpina3i	T	A	12: 104,266,532 (GRCm38)	M232K	probably damaging	Het
Sipa1l2	A	T	8: 125,474,871 (GRCm38)	V646E	probably damaging	Het
Slc38a1	A	T	15: 96,578,792 (GRCm38)	I396N	probably benign	Het
Slc6a13	A	T	6: 121,302,794 (GRCm38)	E42D	probably benign	Het
Stard9	G	A	2: 120,713,546 (GRCm38)	V4442M	probably damaging	Het
Sumo3	T	A	10: 77,616,237 (GRCm38)		probably benign	Het
Syngap1	A	G	17: 26,958,130 (GRCm38)	I356V	probably benign	Het
Tcam1	C	T	11: 106,284,054 (GRCm38)	Q112*	probably null	Het
Tdp2	T	A	13: 24,840,395 (GRCm38)	L225*	probably null	Het
Tmprss7	A	G	16: 45,658,122 (GRCm38)	V747A	probably benign	Het
Ugt2b34	T	A	5: 86,906,364 (GRCm38)	Y186F	probably benign	Het
Usp37	G	T	1: 74,475,133 (GRCm38)	S293*	probably null	Het
Vmn1r36	A	G	6: 66,716,246 (GRCm38)	I109T	probably benign	Het
Vsig10l	T	A	7: 43,468,972 (GRCm38)	V798E	probably benign	Het
Zfp36l1	G	T	12: 80,112,822 (GRCm38)	C18*	probably null	Het
Zfp959	T	C	17: 55,897,427 (GRCm38)	Y152H	probably damaging	Het
Zfyve26	A	T	12: 79,249,599 (GRCm38)	C1949S	probably damaging	Het
Zswim9	T	A	7: 13,261,603 (GRCm38)	E209V	probably damaging	Het

Other mutations in Adam34l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Adam34l	APN	8	43,625,381 (GRCm38)	missense	probably benign	0.12
IGL00391:Adam34l	APN	8	43,625,629 (GRCm38)	missense	probably damaging	1.00
IGL00422:Adam34l	APN	8	43,626,351 (GRCm38)	missense	probably damaging	1.00
IGL00664:Adam34l	APN	8	43,625,969 (GRCm38)	missense	probably benign
IGL01095:Adam34l	APN	8	43,626,096 (GRCm38)	missense	probably benign	0.22
IGL01113:Adam34l	APN	8	43,626,152 (GRCm38)	missense	probably damaging	1.00
IGL01444:Adam34l	APN	8	43,626,433 (GRCm38)	missense	probably benign	0.06
IGL01782:Adam34l	APN	8	43,626,735 (GRCm38)	missense	probably benign	0.01
IGL01921:Adam34l	APN	8	43,625,511 (GRCm38)	missense	probably damaging	0.96
IGL01964:Adam34l	APN	8	43,626,761 (GRCm38)	missense	probably benign	0.00
IGL02139:Adam34l	APN	8	43,625,578 (GRCm38)	missense	probably benign	0.01
IGL02555:Adam34l	APN	8	43,625,268 (GRCm38)	missense	probably damaging	1.00
IGL02951:Adam34l	APN	8	43,627,088 (GRCm38)	missense	possibly damaging	0.62
R0056:Adam34l	UTSW	8	43,625,503 (GRCm38)	nonsense	probably null
R0218:Adam34l	UTSW	8	43,626,440 (GRCm38)	missense	probably benign	0.00
R0530:Adam34l	UTSW	8	43,626,531 (GRCm38)	missense	probably benign	0.00
R0925:Adam34l	UTSW	8	43,626,303 (GRCm38)	missense	probably benign	0.11
R0927:Adam34l	UTSW	8	43,625,123 (GRCm38)	missense	probably benign	0.00
R0975:Adam34l	UTSW	8	43,625,118 (GRCm38)	missense	probably benign
R1300:Adam34l	UTSW	8	43,626,844 (GRCm38)	nonsense	probably null
R1728:Adam34l	UTSW	8	43,625,583 (GRCm38)	missense	probably damaging	1.00
R1729:Adam34l	UTSW	8	43,625,583 (GRCm38)	missense	probably damaging	1.00
R1801:Adam34l	UTSW	8	43,625,917 (GRCm38)	nonsense	probably null
R1869:Adam34l	UTSW	8	43,625,095 (GRCm38)	nonsense	probably null
R1870:Adam34l	UTSW	8	43,625,095 (GRCm38)	nonsense	probably null
R1871:Adam34l	UTSW	8	43,625,095 (GRCm38)	nonsense	probably null
R1992:Adam34l	UTSW	8	43,627,139 (GRCm38)	missense	probably benign	0.44
R2008:Adam34l	UTSW	8	43,627,037 (GRCm38)	missense	probably benign	0.00
R2013:Adam34l	UTSW	8	43,626,405 (GRCm38)	missense	possibly damaging	0.81
R2022:Adam34l	UTSW	8	43,625,917 (GRCm38)	nonsense	probably null
R2175:Adam34l	UTSW	8	43,625,438 (GRCm38)	missense	probably benign
R2875:Adam34l	UTSW	8	43,627,140 (GRCm38)	nonsense	probably null
R3406:Adam34l	UTSW	8	43,626,052 (GRCm38)	nonsense	probably null
R3845:Adam34l	UTSW	8	43,626,632 (GRCm38)	missense	probably benign	0.00
R4033:Adam34l	UTSW	8	43,626,673 (GRCm38)	missense	probably benign	0.28
R4072:Adam34l	UTSW	8	43,626,350 (GRCm38)	missense	probably damaging	1.00
R4074:Adam34l	UTSW	8	43,626,350 (GRCm38)	missense	probably damaging	1.00
R4075:Adam34l	UTSW	8	43,626,350 (GRCm38)	missense	probably damaging	1.00
R4076:Adam34l	UTSW	8	43,626,350 (GRCm38)	missense	probably damaging	1.00
R4153:Adam34l	UTSW	8	43,626,527 (GRCm38)	missense	probably benign	0.04
R4330:Adam34l	UTSW	8	43,626,250 (GRCm38)	missense	probably benign
R4612:Adam34l	UTSW	8	43,626,550 (GRCm38)	missense	probably benign	0.09
R4662:Adam34l	UTSW	8	43,627,079 (GRCm38)	missense	probably benign	0.26
R5032:Adam34l	UTSW	8	43,626,471 (GRCm38)	missense	probably damaging	1.00
R5077:Adam34l	UTSW	8	43,627,163 (GRCm38)	missense	possibly damaging	0.79
R5504:Adam34l	UTSW	8	43,625,282 (GRCm38)	missense	probably damaging	1.00
R5697:Adam34l	UTSW	8	43,626,579 (GRCm38)	missense	probably damaging	1.00
R6232:Adam34l	UTSW	8	43,625,912 (GRCm38)	missense	probably benign	0.00
R6233:Adam34l	UTSW	8	43,625,912 (GRCm38)	missense	probably benign	0.00
R6234:Adam34l	UTSW	8	43,625,912 (GRCm38)	missense	probably benign	0.00
R6241:Adam34l	UTSW	8	43,626,096 (GRCm38)	missense	probably benign	0.22
R6392:Adam34l	UTSW	8	43,626,001 (GRCm38)	missense	probably benign	0.09
R6439:Adam34l	UTSW	8	43,625,951 (GRCm38)	missense	probably damaging	1.00
R6454:Adam34l	UTSW	8	43,626,808 (GRCm38)	missense	probably damaging	0.96
R6455:Adam34l	UTSW	8	43,626,152 (GRCm38)	missense	probably damaging	1.00
R6767:Adam34l	UTSW	8	43,626,914 (GRCm38)	missense	probably damaging	1.00
R6774:Adam34l	UTSW	8	43,625,183 (GRCm38)	missense	probably benign	0.00
R6877:Adam34l	UTSW	8	43,625,237 (GRCm38)	missense	probably benign	0.02
R6911:Adam34l	UTSW	8	43,625,109 (GRCm38)	missense	probably benign	0.02
R7211:Adam34l	UTSW	8	43,625,877 (GRCm38)	missense	probably damaging	1.00
R7597:Adam34l	UTSW	8	43,625,244 (GRCm38)	missense	probably damaging	1.00
R7602:Adam34l	UTSW	8	43,626,666 (GRCm38)	missense	probably damaging	0.99
R7797:Adam34l	UTSW	8	43,626,374 (GRCm38)	missense	probably benign	0.04
R7981:Adam34l	UTSW	8	43,625,813 (GRCm38)	missense	probably damaging	1.00
R8154:Adam34l	UTSW	8	43,625,387 (GRCm38)	missense	probably damaging	0.97
R8215:Adam34l	UTSW	8	43,626,501 (GRCm38)	missense	probably benign	0.05
R9180:Adam34l	UTSW	8	43,626,933 (GRCm38)	nonsense	probably null
R9307:Adam34l	UTSW	8	43,626,267 (GRCm38)	missense	probably benign	0.00
R9733:Adam34l	UTSW	8	43,626,149 (GRCm38)	missense	possibly damaging	0.94
RF001:Adam34l	UTSW	8	43,626,905 (GRCm38)	missense	possibly damaging	0.79
Z1177:Adam34l	UTSW	8	43,626,546 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACCTGAAGTTCCATTGCACC -3'
(R):5'- GCATGATGGAAGTGCATGTAC -3'

Sequencing Primer
(F):5'- ATTGCACCACTCTGGAAGGTC -3'
(R):5'- CATGATGGAAGTGCATGTACATGTG -3'

Posted On

2018-02-28