Mutagenetix > Incidental Mutation

Incidental Mutation 'R8939:Mtx1'

680828

Institutional Source

Beutler Lab

Gene Symbol

Mtx1

Ensembl Gene

ENSMUSG00000064068

Gene Name

metaxin 1

Synonyms

Gcap6

MMRRC Submission

068712-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.372) question?

Stock #

R8939 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89116388-89121214 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89120033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 207 (V207A)

Ref Sequence

ENSEMBL: ENSMUSP00000114009 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029682] [ENSMUST00000073572] [ENSMUST00000077367] [ENSMUST00000118964] [ENSMUST00000119084] [ENSMUST00000142051] [ENSMUST00000152789] [ENSMUST00000167998] [ENSMUST00000174126] [ENSMUST00000197738]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029682

SMART Domains

Protein: ENSMUSP00000029682
Gene: ENSMUSG00000028047

Domain	Start	End	E-Value	Type
TSPN	21	193	4.71e-56	SMART
Pfam:COMP	226	270	2.5e-22	PFAM
EGF	277	315	8.19e-2	SMART
EGF_CA	316	369	6.91e-9	SMART
EGF_CA	370	413	1.38e-8	SMART
EGF	417	456	1.99e0	SMART
Pfam:TSP_3	492	527	1e-12	PFAM
Pfam:TSP_3	551	586	2.2e-16	PFAM
Pfam:TSP_3	586	609	6.6e-7	PFAM
Pfam:TSP_3	610	647	2.6e-14	PFAM
Pfam:TSP_3	648	687	2.4e-10	PFAM
Pfam:TSP_3	688	723	4.2e-15	PFAM
Pfam:TSP_C	741	938	3.3e-99	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000073572
AA Change: V207A

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000073261
Gene: ENSMUSG00000064068
AA Change: V207A

Domain	Start	End	E-Value	Type
low complexity region	94	109	N/A	INTRINSIC
Pfam:Tom37	151	219	4.2e-21	PFAM
Pfam:Tom37_C	239	317	8.1e-24	PFAM
Pfam:GST_C_3	267	383	1.7e-11	PFAM
Pfam:GST_C_2	270	377	2.7e-8	PFAM
Pfam:Tom37_C	300	369	1.1e-14	PFAM
low complexity region	396	415	N/A	INTRINSIC
transmembrane domain	416	438	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000077367

SMART Domains

Protein: ENSMUSP00000076589
Gene: ENSMUSG00000028048

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Glyco_hydro_30	20	512	1.4e-252	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000118964
AA Change: V207A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114009
Gene: ENSMUSG00000064068
AA Change: V207A

Domain	Start	End	E-Value	Type
low complexity region	94	109	N/A	INTRINSIC
Pfam:Tom37	151	219	5.9e-21	PFAM
Pfam:Tom37_C	216	287	6.3e-19	PFAM
Pfam:GST_C_3	216	352	5.1e-11	PFAM
Pfam:GST_C_2	238	344	1.9e-8	PFAM
Pfam:Tom37_C	269	338	9.5e-15	PFAM
low complexity region	365	384	N/A	INTRINSIC
transmembrane domain	385	407	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119084

SMART Domains

Protein: ENSMUSP00000112912
Gene: ENSMUSG00000028047

Domain	Start	End	E-Value	Type
TSPN	21	193	4.71e-56	SMART
Pfam:COMP	226	270	8.2e-26	PFAM
EGF	277	315	8.19e-2	SMART
EGF_CA	316	369	6.91e-9	SMART
EGF_CA	370	413	1.38e-8	SMART
Pfam:TSP_3	455	490	4.4e-13	PFAM
Pfam:TSP_3	514	549	9.3e-17	PFAM
Pfam:TSP_3	549	572	2.8e-7	PFAM
Pfam:TSP_3	573	610	1.1e-14	PFAM
Pfam:TSP_3	611	650	1e-10	PFAM
Pfam:TSP_3	651	686	1.8e-15	PFAM
Pfam:TSP_C	704	904	7.9e-108	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000113986
Gene: ENSMUSG00000064068
AA Change: V105A

Domain	Start	End	E-Value	Type
Pfam:Tom37	12	57	1.6e-11	PFAM
Pfam:Tom37_C	138	216	5.4e-24	PFAM
Pfam:GST_C_3	166	282	1.1e-11	PFAM
Pfam:GST_C_2	169	276	1.8e-8	PFAM
Pfam:Tom37_C	199	268	7.2e-15	PFAM
low complexity region	295	314	N/A	INTRINSIC
transmembrane domain	315	337	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129055

Predicted Effect

probably benign
Transcript: ENSMUST00000142051

SMART Domains

Protein: ENSMUSP00000116136
Gene: ENSMUSG00000028047

Domain	Start	End	E-Value	Type
TSPN	1	124	2.52e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000152789

Predicted Effect

probably benign
Transcript: ENSMUST00000167998

SMART Domains

Protein: ENSMUSP00000130660
Gene: ENSMUSG00000028048

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Glyco_hydro_30	20	512	1.4e-252	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173475

SMART Domains

Protein: ENSMUSP00000134110
Gene: ENSMUSG00000064068

Domain	Start	End	E-Value	Type
low complexity region	12	31	N/A	INTRINSIC
low complexity region	97	116	N/A	INTRINSIC
transmembrane domain	117	139	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000133282
Gene: ENSMUSG00000064068
AA Change: V45A

Domain	Start	End	E-Value	Type
Pfam:Tom37	1	58	8.5e-16	PFAM
Pfam:Tom37_C	77	155	9.7e-24	PFAM
Pfam:GST_C_3	104	221	8.2e-12	PFAM
Pfam:GST_C_2	107	216	7.5e-9	PFAM
Pfam:Tom37_C	138	207	1.3e-14	PFAM
low complexity region	234	253	N/A	INTRINSIC
transmembrane domain	254	276	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000133866
Gene: ENSMUSG00000064068
AA Change: V69A

Domain	Start	End	E-Value	Type
Pfam:Tom37	14	82	1.1e-21	PFAM
Pfam:Tom37_C	102	178	3.4e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174126

SMART Domains

Protein: ENSMUSP00000133291
Gene: ENSMUSG00000064068

Domain	Start	End	E-Value	Type
Pfam:Tom37_C	1	74	7.6e-23	PFAM
Pfam:GST_C_3	7	143	7.3e-12	PFAM
Pfam:GST_C_2	26	137	2.8e-9	PFAM
Pfam:Tom37_C	61	129	6.2e-15	PFAM
low complexity region	159	169	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197738

SMART Domains

Protein: ENSMUSP00000142401
Gene: ENSMUSG00000028048

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Glyco_hydro_30	20	388	1e-186	PFAM

Meta Mutation Damage Score

0.0996

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	G	14: 64,225,162 (GRCm39)	V12A	probably benign	Het
Abcc12	A	G	8: 87,243,947 (GRCm39)	Y1069H	probably damaging	Het
Abcc9	T	C	6: 142,624,977 (GRCm39)	T473A	probably damaging	Het
Acsm1	A	T	7: 119,239,868 (GRCm39)	T271S	probably benign	Het
Adh6b	T	C	3: 138,055,397 (GRCm39)	I49T	probably benign	Het
Aff4	A	T	11: 53,263,231 (GRCm39)	T84S	probably benign	Het
Angptl7	G	A	4: 148,580,956 (GRCm39)	R280*	probably null	Het
Bhlhe23	T	A	2: 180,418,099 (GRCm39)	K146N	probably damaging	Het
Cacna1s	T	C	1: 136,014,544 (GRCm39)		probably null	Het
Cfap45	C	G	1: 172,372,834 (GRCm39)	R510G	probably damaging	Het
Chl1	A	G	6: 103,642,868 (GRCm39)	Y202C	probably damaging	Het
Chrna6	T	A	8: 27,896,870 (GRCm39)	T336S	probably benign	Het
Clpx	A	G	9: 65,231,519 (GRCm39)	K535E	probably benign	Het
Crybg3	T	C	16: 59,376,512 (GRCm39)	M1581V	probably benign	Het
Ddx4	A	T	13: 112,758,823 (GRCm39)	I246K	probably benign	Het
F7	G	T	8: 13,078,724 (GRCm39)	G52C	probably damaging	Het
Fam186b	T	C	15: 99,177,223 (GRCm39)	Q701R	probably benign	Het
Fign	T	A	2: 63,809,456 (GRCm39)	M605L	probably benign	Het
Fpr2	T	C	17: 18,113,883 (GRCm39)	F293S	probably damaging	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gria2	A	T	3: 80,618,170 (GRCm39)		probably benign	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Gsto2	T	C	19: 47,873,203 (GRCm39)		probably null	Het
Hsd3b1	A	G	3: 98,760,299 (GRCm39)	W231R	probably damaging	Het
Igflr1	CAGAG	CAG	7: 30,266,888 (GRCm39)		probably null	Het
Ighv1-80	C	T	12: 115,876,113 (GRCm39)	G68R	probably damaging	Het
Il10ra	A	G	9: 45,177,802 (GRCm39)	V69A	unknown	Het
Klhdc1	C	T	12: 69,300,537 (GRCm39)	A159V	probably damaging	Het
Krtap4-6	A	G	11: 99,556,229 (GRCm39)	I166T	unknown	Het
Lce1h	A	T	3: 92,670,976 (GRCm39)	C59S	unknown	Het
Magi3	T	C	3: 103,996,748 (GRCm39)		probably benign	Het
Map3k1	G	T	13: 111,892,837 (GRCm39)	S806*	probably null	Het
Map3k6	T	A	4: 132,979,954 (GRCm39)		probably benign	Het
Mgam	G	A	6: 40,740,137 (GRCm39)		probably null	Het
Muc5ac	A	T	7: 141,347,091 (GRCm39)	N356Y	probably damaging	Het
Myo16	T	C	8: 10,524,679 (GRCm39)	F810S	probably damaging	Het
Nlrx1	A	G	9: 44,166,761 (GRCm39)	L774P	probably damaging	Het
Nr1i2	C	T	16: 38,086,382 (GRCm39)	V28I	probably benign	Het
Or10h28	A	G	17: 33,488,589 (GRCm39)	K297R	probably damaging	Het
Or5b122	A	C	19: 13,562,860 (GRCm39)	N64T	probably damaging	Het
Pcmtd2	T	C	2: 181,496,863 (GRCm39)		probably benign	Het
Pcnx3	A	G	19: 5,730,347 (GRCm39)	L102P	probably damaging	Het
Pnpla6	A	G	8: 3,571,319 (GRCm39)	E114G	possibly damaging	Het
Ppp4r1	T	C	17: 66,110,926 (GRCm39)	V70A	probably damaging	Het
Psd2	G	A	18: 36,121,292 (GRCm39)	V421M	probably damaging	Het
Qng1	C	T	13: 58,532,875 (GRCm39)	A32T	probably damaging	Het
Rbak	C	T	5: 143,160,025 (GRCm39)	E343K	possibly damaging	Het
Rhbdf1	G	A	11: 32,160,093 (GRCm39)	A136V	probably benign	Het
Rusc1	T	A	3: 88,995,337 (GRCm39)	E231D	probably benign	Het
Rxfp1	T	C	3: 79,552,231 (GRCm39)	E690G	probably damaging	Het
Sdr9c7	A	G	10: 127,734,776 (GRCm39)	E88G	probably benign	Het
Sec23b	T	C	2: 144,411,137 (GRCm39)		probably null	Het
Sgcb	A	T	5: 73,801,661 (GRCm39)	I68N	probably damaging	Het
Sh3pxd2b	T	C	11: 32,364,433 (GRCm39)		probably benign	Het
Slc25a48	C	T	13: 56,611,519 (GRCm39)	P209S	probably damaging	Het
Slc9a3	C	A	13: 74,311,895 (GRCm39)	H614Q	possibly damaging	Het
Slurp1	G	A	15: 74,598,763 (GRCm39)	S76L	probably damaging	Het
Spen	T	C	4: 141,202,969 (GRCm39)	E1886G	possibly damaging	Het
Sqor	C	T	2: 122,649,549 (GRCm39)	P151S	possibly damaging	Het
Sstr4	C	A	2: 148,238,228 (GRCm39)	L280M	probably damaging	Het
Stard10	A	G	7: 100,991,847 (GRCm39)	Y117C	probably damaging	Het
Stard13	A	T	5: 150,968,574 (GRCm39)		probably null	Het
Stim2	G	T	5: 54,262,673 (GRCm39)	R305L	possibly damaging	Het
Syt14	G	A	1: 192,612,896 (GRCm39)	R635C	probably damaging	Het
Tmcc3	A	T	10: 94,381,483 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,575,695 (GRCm39)	N23320S	possibly damaging	Het
Ubqln4	A	G	3: 88,473,023 (GRCm39)	T493A	probably benign	Het
Ugt2b34	A	G	5: 87,039,158 (GRCm39)	L501P	probably damaging	Het
Umod	T	C	7: 119,068,700 (GRCm39)	I449V	probably damaging	Het
Vmn2r51	C	A	7: 9,833,953 (GRCm39)	D362Y	possibly damaging	Het
Xirp2	A	C	2: 67,346,488 (GRCm39)	T2910P	probably benign	Het
Zscan20	A	G	4: 128,498,315 (GRCm39)	S28P	probably benign	Het

Other mutations in Mtx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02189:Mtx1	APN	3	89,116,624 (GRCm39)	missense	probably damaging	0.99
IGL02544:Mtx1	APN	3	89,117,703 (GRCm39)	missense	probably damaging	1.00
R1677:Mtx1	UTSW	3	89,116,648 (GRCm39)	missense	probably benign	0.24
R4944:Mtx1	UTSW	3	89,121,205 (GRCm39)	missense	probably benign
R6006:Mtx1	UTSW	3	89,117,613 (GRCm39)	missense	probably damaging	1.00
R7684:Mtx1	UTSW	3	89,117,739 (GRCm39)	missense	possibly damaging	0.93
R7690:Mtx1	UTSW	3	89,120,088 (GRCm39)	missense
R7820:Mtx1	UTSW	3	89,121,315 (GRCm39)	missense	probably benign	0.09
R8376:Mtx1	UTSW	3	89,121,478 (GRCm39)	missense	probably benign	0.00
R9486:Mtx1	UTSW	3	89,120,163 (GRCm39)	missense
Z1177:Mtx1	UTSW	3	89,121,412 (GRCm39)	missense	probably benign	0.01
Z1177:Mtx1	UTSW	3	89,121,166 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGCCCCTTAAGTTCACTATC -3'
(R):5'- ACCAGCAATCCTTGGCAGAG -3'

Sequencing Primer
(F):5'- AAGTTCACTATCTGGCCAACTG -3'
(R):5'- AGAGCCCTTCAGGTATCCC -3'

Posted On

2021-08-31