Mutagenetix > Incidental Mutation

Incidental Mutation 'R2875:Adam34l'

260511

Institutional Source

Beutler Lab

Gene Symbol

Adam34l

Ensembl Gene

ENSMUSG00000050190

Gene Name

a disintegrin and metallopeptidase domain 34 like

Synonyms

Gm5346

MMRRC Submission

040463-MU

Accession Numbers

Essential gene?

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

Stock #

R2875 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44077988-44080313 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 44080177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 16 (K16*)

Ref Sequence

ENSEMBL: ENSMUSP00000058858 (fasta)

Gene Model

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

AlphaFold

Q7M766

Predicted Effect

probably null
Transcript: ENSMUST00000056023
AA Change: K16*

SMART Domains

Protein: ENSMUSP00000058858
Gene: ENSMUSG00000050190
AA Change: K16*

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (1/1)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	G	10: 10,298,463 (GRCm39)	T422P	probably damaging	Het
Adrm1	A	G	2: 179,817,411 (GRCm39)	T293A	probably damaging	Het
Baz1a	A	T	12: 54,969,904 (GRCm39)	D585E	probably damaging	Het
Ccdc152	T	C	15: 3,327,663 (GRCm39)	N38S	probably damaging	Het
Cenpf	A	G	1: 189,390,841 (GRCm39)	M997T	probably benign	Het
Dnah12	A	G	14: 26,414,625 (GRCm39)	I9V	probably benign	Het
Dnah12	A	G	14: 26,598,907 (GRCm39)	N995S	probably benign	Het
Dnah9	C	A	11: 66,059,287 (GRCm39)	G3C	possibly damaging	Het
Dock2	A	G	11: 34,609,712 (GRCm39)	S243P	probably damaging	Het
Eif2ak3	T	C	6: 70,860,623 (GRCm39)	S400P	probably damaging	Het
Eno1b	A	G	18: 48,180,851 (GRCm39)	K343R	possibly damaging	Het
Grk6	A	G	13: 55,600,117 (GRCm39)	H271R	probably damaging	Het
H2-Ab1	A	C	17: 34,482,286 (GRCm39)	M1L	probably benign	Het
Irf8	C	A	8: 121,481,202 (GRCm39)	P262Q	probably damaging	Het
Kcnc3	G	T	7: 44,240,961 (GRCm39)	G218*	probably null	Het
Krt9	C	A	11: 100,080,031 (GRCm39)	G454*	probably null	Het
Mgrn1	C	T	16: 4,725,280 (GRCm39)	T47I	possibly damaging	Het
Ndst1	A	T	18: 60,823,119 (GRCm39)	F816I	probably damaging	Het
Or11g26	T	A	14: 50,753,269 (GRCm39)	W203R	probably benign	Het
Or5h25	A	T	16: 58,930,165 (GRCm39)	D269E	probably benign	Het
Phf12	C	A	11: 77,900,573 (GRCm39)	T223N	probably damaging	Het
Rad1	T	C	15: 10,490,417 (GRCm39)	V128A	probably benign	Het
Rad54l	C	T	4: 115,959,050 (GRCm39)	R382Q	probably benign	Het
Rhbdd1	A	G	1: 82,346,090 (GRCm39)	D215G	probably benign	Het
Sdc4	T	C	2: 164,273,211 (GRCm39)	D33G	possibly damaging	Het
Smarca4	A	T	9: 21,553,876 (GRCm39)	K387N	possibly damaging	Het
St3gal5	A	G	6: 72,124,114 (GRCm39)	M214V	possibly damaging	Het
Stk25	T	C	1: 93,556,973 (GRCm39)	D15G	possibly damaging	Het
Timm21	T	C	18: 84,969,217 (GRCm39)	D69G	probably benign	Het
Ttll4	A	G	1: 74,725,597 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,589,438 (GRCm39)	N21272I	probably damaging	Het
Uchl3	A	G	14: 101,905,996 (GRCm39)	H153R	probably benign	Het
Zbed6	C	T	1: 133,584,598 (GRCm39)	C913Y	probably damaging	Het
Zcwpw1	T	C	5: 137,808,304 (GRCm39)	S251P	probably damaging	Het
Zeb1	GGA	GGAAGA	18: 5,772,859 (GRCm39)		probably benign	Het
Zscan29	T	C	2: 120,994,581 (GRCm39)	Y468C	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
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'- AGTGATTATGTGCCTCTGCC -3'
(R):5'- TGCCATCTAAGTTAATTGTCGGTG -3'

Sequencing Primer
(F):5'- CCCCCAATGCTCAGGCTATAGG -3'
(R):5'- TCTAAGTTAATTGTCGGTGATTTACC -3'

Genotyping

NOTE: These primers have not been validated.

R2875:Gm5346 genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the single nucleotide transition.

PCR Primers

R28750019_Gm5346_PCR_F: 5’- AGTGATTATGTGCCTCTGCC-3’

R28750019_Gm5346_PCR_R: 5’- TGCCATCTAAGTTAATTGTCGGTG-3’

Sequencing Primers

R28750019_Gm5346_SEQ_F: 5’- CCCCCAATGCTCAGGCTATAGG-3’ 

R28750019_Gm5346_SEQ_R: 5’- TCTAAGTTAATTGTCGGTGATTTACC-3’ 

PCR program

1) 94°C 2:00

2) 94°C 0:30

3) 55°C 0:30

4) 72°C 1:00

5) repeat steps (2-4) 40X

6) 72°C 10:00

7) 4°C hold

The following sequence of 415 nucleotides is amplified (Chr.8: 43626961-43627375, GRCm38; NCBI RefSeq: NC_000074):

agtgattatg tgcctctgcc ccccaatgct caggctatag gacagccaac ctggtgaact

attatttcct ctagtgacag tgaccctcaa gggtgtcact acttctggaa ggctactgta

cttagcatgt ccaattggtg aatatgcaga gaagaagaac attgtccaca ggcagaactt

aaggaacatg ttccttttat ggaccacgac cttagcccca gtcattatat cctattagag

agccaaggag gagcttgaga agttcttgtt gtcccagtcc tcactttgtg tggttgcagg

tagcactggt gtcttctgac acggttgagt cataagggtg gtaggactaa aagaaacagg

caaataaagg caaacatagt tattggtaaa tcaccgacaa ttaacttaga tggca

FASTA sequence

Primer binding sites are underlined and the sequencing primer is highlighted; the mutated T is shown in red text (Chr. + strand, T>A; Sense strand, A>T).

Posted On

2015-01-23