Mutagenetix > Incidental Mutation

Incidental Mutation 'R8339:Adam34'

644797

Institutional Source

Beutler Lab

Gene Symbol

Adam34

Ensembl Gene

ENSMUSG00000079058

Gene Name

a disintegrin and metallopeptidase domain 34

Synonyms

testase 4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R8339 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44103346-44118597 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44103640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 668 (H668Q)

Ref Sequence

ENSEMBL: ENSMUSP00000148332 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110411] [ENSMUST00000212185]

AlphaFold

A2RSG8

Predicted Effect

probably benign
Transcript: ENSMUST00000110411
AA Change: H668Q

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106041
Gene: ENSMUSG00000079058
AA Change: H668Q

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
Pfam:Pep_M12B_propep	40	159	5.9e-20	PFAM
Pfam:Reprolysin_5	205	377	1.6e-16	PFAM
Pfam:Reprolysin_4	205	393	3e-12	PFAM
Pfam:Reprolysin	207	397	9.4e-49	PFAM
Pfam:Reprolysin_2	224	389	1e-14	PFAM
Pfam:Reprolysin_3	231	352	2.7e-14	PFAM
DISIN	416	491	3.38e-40	SMART
ACR	492	628	9.18e-62	SMART
transmembrane domain	685	707	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000212185
AA Change: H668Q

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,324,831 (GRCm39)	F1549S	probably damaging	Het
Ablim1	T	C	19: 57,032,281 (GRCm39)	E710G	probably benign	Het
Asphd2	A	T	5: 112,539,501 (GRCm39)	Y111N	possibly damaging	Het
Camsap1	A	G	2: 25,872,817 (GRCm39)	I45T	possibly damaging	Het
Ccdc88c	A	T	12: 100,907,399 (GRCm39)	L984*	probably null	Het
Ccr1	T	G	9: 123,763,763 (GRCm39)	N256H	probably damaging	Het
Cep295	A	T	9: 15,236,846 (GRCm39)	D254E		Het
Cfhr4	T	A	1: 139,660,157 (GRCm39)	E656V	probably damaging	Het
Cmya5	G	T	13: 93,228,142 (GRCm39)	Y2315*	probably null	Het
Cspp1	G	T	1: 10,183,892 (GRCm39)	R839I	probably damaging	Het
Dbn1	A	T	13: 55,629,982 (GRCm39)	D153E	probably benign	Het
Dnah7a	G	T	1: 53,724,178 (GRCm39)	L96I	probably benign	Het
G6pc1	A	G	11: 101,267,314 (GRCm39)	T255A	possibly damaging	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,934,702 (GRCm39)		probably benign	Het
Il12a	T	A	3: 68,599,438 (GRCm39)	C33*	probably null	Het
Iqce	T	C	5: 140,660,093 (GRCm39)	E555G	probably damaging	Het
Itpr2	T	C	6: 146,214,396 (GRCm39)	M1484V	probably benign	Het
Klc2	A	G	19: 5,159,562 (GRCm39)	S518P	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or2b7	A	T	13: 21,739,996 (GRCm39)	N65K	probably damaging	Het
Or8b47	T	C	9: 38,435,717 (GRCm39)	S230P	probably damaging	Het
Or9g4b	C	A	2: 85,615,876 (GRCm39)	T7N	probably damaging	Het
Otogl	T	A	10: 107,625,396 (GRCm39)	I1516F	probably damaging	Het
Otogl	G	T	10: 107,625,397 (GRCm39)	S1515R	probably benign	Het
Pacs1	A	T	19: 5,192,651 (GRCm39)	V627E	probably damaging	Het
Ptprb	A	C	10: 116,119,356 (GRCm39)	R163S	probably benign	Het
Ralgps2	G	T	1: 156,649,008 (GRCm39)	P432Q	probably null	Het
Rgl3	T	C	9: 21,898,825 (GRCm39)	T205A	probably benign	Het
Rock2	G	T	12: 17,024,861 (GRCm39)	W1213L	probably damaging	Het
Satb1	T	A	17: 52,089,977 (GRCm39)	H290L	probably damaging	Het
Scn1a	T	C	2: 66,116,373 (GRCm39)	Y422C	probably damaging	Het
Sgcg	T	A	14: 61,469,966 (GRCm39)	M132L	probably benign	Het
Shank1	A	G	7: 43,975,589 (GRCm39)	S478G	unknown	Het
Slc18a1	A	T	8: 69,518,273 (GRCm39)	M247K	possibly damaging	Het
Slc37a4	A	G	9: 44,313,724 (GRCm39)	I417V	probably benign	Het
Slc9b2	A	G	3: 135,030,363 (GRCm39)	M227V	possibly damaging	Het
Tcf20	C	A	15: 82,736,877 (GRCm39)	V1525L	probably benign	Het
Tril	G	A	6: 53,794,918 (GRCm39)	T768I	possibly damaging	Het
Xxylt1	T	C	16: 30,899,858 (GRCm39)	H99R	possibly damaging	Het
Zfp653	T	C	9: 21,969,213 (GRCm39)	E351G	probably damaging	Het

Other mutations in Adam34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00545:Adam34	APN	8	44,105,227 (GRCm39)	missense	possibly damaging	0.91
IGL01296:Adam34	APN	8	44,104,178 (GRCm39)	missense	possibly damaging	0.90
IGL01369:Adam34	APN	8	44,104,094 (GRCm39)	missense	probably benign	0.00
IGL01933:Adam34	APN	8	44,104,569 (GRCm39)	missense	probably damaging	1.00
IGL01938:Adam34	APN	8	44,104,053 (GRCm39)	missense	probably damaging	1.00
IGL02112:Adam34	APN	8	44,104,175 (GRCm39)	missense	possibly damaging	0.46
IGL02182:Adam34	APN	8	44,104,790 (GRCm39)	missense	probably benign
IGL02306:Adam34	APN	8	44,103,522 (GRCm39)	missense	probably benign	0.44
IGL02661:Adam34	APN	8	44,104,572 (GRCm39)	missense	probably damaging	1.00
IGL02888:Adam34	APN	8	44,104,610 (GRCm39)	missense	probably damaging	1.00
IGL02979:Adam34	APN	8	44,104,408 (GRCm39)	missense	probably damaging	1.00
IGL03073:Adam34	APN	8	44,103,940 (GRCm39)	missense	probably damaging	0.99
BB010:Adam34	UTSW	8	44,103,911 (GRCm39)	missense	probably damaging	1.00
BB020:Adam34	UTSW	8	44,103,911 (GRCm39)	missense	probably damaging	1.00
PIT4453001:Adam34	UTSW	8	44,104,349 (GRCm39)	missense	probably damaging	1.00
R0060:Adam34	UTSW	8	44,128,920 (GRCm39)	intron	probably benign
R0317:Adam34	UTSW	8	44,105,288 (GRCm39)	missense	probably benign	0.14
R0322:Adam34	UTSW	8	44,104,958 (GRCm39)	missense	probably benign	0.00
R0427:Adam34	UTSW	8	44,105,493 (GRCm39)	missense	probably benign	0.15
R0593:Adam34	UTSW	8	44,104,724 (GRCm39)	missense	possibly damaging	0.87
R0837:Adam34	UTSW	8	44,104,537 (GRCm39)	missense	probably benign	0.00
R0927:Adam34	UTSW	8	44,104,621 (GRCm39)	missense	probably damaging	1.00
R1634:Adam34	UTSW	8	44,105,127 (GRCm39)	missense	possibly damaging	0.81
R1653:Adam34	UTSW	8	44,103,682 (GRCm39)	nonsense	probably null
R1826:Adam34	UTSW	8	44,104,379 (GRCm39)	missense	probably damaging	1.00
R1873:Adam34	UTSW	8	44,104,843 (GRCm39)	missense	probably benign	0.02
R1943:Adam34	UTSW	8	44,104,852 (GRCm39)	missense	probably damaging	1.00
R1943:Adam34	UTSW	8	44,103,864 (GRCm39)	missense	possibly damaging	0.48
R2147:Adam34	UTSW	8	44,105,538 (GRCm39)	missense	probably benign	0.01
R2150:Adam34	UTSW	8	44,105,538 (GRCm39)	missense	probably benign	0.01
R2206:Adam34	UTSW	8	44,105,274 (GRCm39)	missense	probably benign	0.02
R2207:Adam34	UTSW	8	44,105,274 (GRCm39)	missense	probably benign	0.02
R2268:Adam34	UTSW	8	44,103,647 (GRCm39)	missense	probably benign	0.00
R2349:Adam34	UTSW	8	44,105,415 (GRCm39)	missense	probably damaging	0.99
R3983:Adam34	UTSW	8	44,103,806 (GRCm39)	missense	probably benign
R4158:Adam34	UTSW	8	44,103,854 (GRCm39)	missense	probably damaging	1.00
R4179:Adam34	UTSW	8	44,104,128 (GRCm39)	missense	probably benign	0.18
R5219:Adam34	UTSW	8	44,104,461 (GRCm39)	missense	probably benign
R5398:Adam34	UTSW	8	44,104,278 (GRCm39)	missense	probably damaging	1.00
R5611:Adam34	UTSW	8	44,104,749 (GRCm39)	missense	probably benign	0.43
R5928:Adam34	UTSW	8	44,105,067 (GRCm39)	missense	probably benign	0.08
R6115:Adam34	UTSW	8	44,105,098 (GRCm39)	missense	probably benign
R6319:Adam34	UTSW	8	44,104,952 (GRCm39)	missense	probably benign	0.01
R6384:Adam34	UTSW	8	44,103,836 (GRCm39)	missense	probably benign	0.00
R6706:Adam34	UTSW	8	44,104,479 (GRCm39)	nonsense	probably null
R6992:Adam34	UTSW	8	44,105,642 (GRCm39)	start codon destroyed	probably null	1.00
R7032:Adam34	UTSW	8	44,105,303 (GRCm39)	missense	probably damaging	1.00
R7151:Adam34	UTSW	8	44,104,499 (GRCm39)	missense	probably benign	0.19
R7187:Adam34	UTSW	8	44,105,565 (GRCm39)	missense	probably benign	0.02
R7223:Adam34	UTSW	8	44,105,041 (GRCm39)	missense	probably benign	0.02
R7487:Adam34	UTSW	8	44,104,191 (GRCm39)	missense	probably damaging	1.00
R7726:Adam34	UTSW	8	44,104,208 (GRCm39)	missense	probably damaging	0.99
R7789:Adam34	UTSW	8	44,105,488 (GRCm39)	missense	probably benign	0.00
R7810:Adam34	UTSW	8	44,105,045 (GRCm39)	missense	probably benign	0.01
R7933:Adam34	UTSW	8	44,103,911 (GRCm39)	missense	probably damaging	1.00
R8192:Adam34	UTSW	8	44,103,970 (GRCm39)	missense	probably damaging	1.00
R8231:Adam34	UTSW	8	44,104,659 (GRCm39)	missense	probably benign
R8238:Adam34	UTSW	8	44,103,993 (GRCm39)	missense	probably damaging	1.00
R8259:Adam34	UTSW	8	44,104,646 (GRCm39)	missense	probably benign	0.03
R8381:Adam34	UTSW	8	44,104,847 (GRCm39)	missense	possibly damaging	0.70
R8670:Adam34	UTSW	8	44,105,126 (GRCm39)	missense	possibly damaging	0.91
R8693:Adam34	UTSW	8	44,104,641 (GRCm39)	missense	probably benign
R8932:Adam34	UTSW	8	44,105,192 (GRCm39)	missense	probably benign	0.19
R8936:Adam34	UTSW	8	44,104,439 (GRCm39)	missense	probably benign	0.00
R8981:Adam34	UTSW	8	44,103,840 (GRCm39)	missense	probably benign	0.05
R9040:Adam34	UTSW	8	44,103,363 (GRCm39)	unclassified	probably benign
R9105:Adam34	UTSW	8	44,103,785 (GRCm39)	missense	probably damaging	1.00
R9305:Adam34	UTSW	8	44,104,416 (GRCm39)	missense	probably damaging	1.00
R9321:Adam34	UTSW	8	44,105,243 (GRCm39)	missense	probably damaging	1.00
R9641:Adam34	UTSW	8	44,104,076 (GRCm39)	missense	probably damaging	0.97
R9644:Adam34	UTSW	8	44,104,766 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CAGATTTTGAGTCTGGCAGCG -3'
(R):5'- GCTGGACTACGGACTATCATTTTGG -3'

Sequencing Primer
(F):5'- AGTCTGGCAGCGATTATTTTAGG -3'
(R):5'- ACGGACTATCATTTTGGGATCACC -3'

Posted On

2020-09-02