Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03119:Trpm6'

409907

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trpm6

Ensembl Gene

ENSMUSG00000024727

Gene Name

transient receptor potential cation channel, subfamily M, member 6

Synonyms

CHAK2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03119

Quality Score

Status

Chromosome

Chromosomal Location

18727347-18869875 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 18815381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 1156 (E1156*)

Ref Sequence

ENSEMBL: ENSMUSP00000037443 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040489]

AlphaFold

Q8CIR4

Predicted Effect

probably null
Transcript: ENSMUST00000040489
AA Change: E1156*

SMART Domains

Protein: ENSMUSP00000037443
Gene: ENSMUSG00000024727
AA Change: E1156*

Domain	Start	End	E-Value	Type
Blast:ANK	430	459	4e-8	BLAST
low complexity region	580	604	N/A	INTRINSIC
transmembrane domain	749	766	N/A	INTRINSIC
Pfam:Ion_trans	847	1087	2.8e-13	PFAM
low complexity region	1113	1126	N/A	INTRINSIC
low complexity region	1136	1154	N/A	INTRINSIC
Pfam:TRPM_tetra	1176	1231	7.5e-27	PFAM
low complexity region	1320	1331	N/A	INTRINSIC
low complexity region	1578	1596	N/A	INTRINSIC
Blast:Alpha_kinase	1618	1673	9e-11	BLAST
low complexity region	1682	1695	N/A	INTRINSIC
Alpha_kinase	1761	1978	1e-84	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is predominantly expressed in the kidney and colon, and encodes a protein containing an ion channel domain and a protein kinase domain. It is crucial for magnesium homeostasis, and plays an essential role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Mutations in this gene are associated with hypomagnesemia with secondary hypocalcemia. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic and postnatal lethality with exencephaly, spina bifida occulta, and abnormal brain and facial development. Mice heterozygous for a knock-out allele exhibit some premature death and decreased serummagnesium. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,764,887 (GRCm39)	T626A	probably benign	Het
Adcy1	C	T	11: 7,059,051 (GRCm39)	T319I	probably damaging	Het
Adgrv1	A	G	13: 81,530,492 (GRCm39)	S5861P	probably damaging	Het
Adgrv1	A	C	13: 81,581,819 (GRCm39)	C4742G	probably benign	Het
Arid5b	A	T	10: 68,079,057 (GRCm39)	D93E	probably damaging	Het
Atp6v1h	A	G	1: 5,165,892 (GRCm39)	T121A	probably benign	Het
Atxn7	C	T	14: 14,100,734 (GRCm38)	L807F	probably damaging	Het
Cep104	A	C	4: 154,066,181 (GRCm39)	K126N	probably damaging	Het
Dcaf6	T	C	1: 165,167,545 (GRCm39)	E708G	probably damaging	Het
Dst	A	G	1: 34,200,143 (GRCm39)	Y107C	probably damaging	Het
E2f3	A	G	13: 30,169,348 (GRCm39)	S102P	probably benign	Het
Eif3e	A	C	15: 43,129,000 (GRCm39)	S207A	probably benign	Het
Etl4	A	G	2: 20,718,198 (GRCm39)	Y313C	probably damaging	Het
Fyttd1	T	C	16: 32,721,065 (GRCm39)	V121A	probably benign	Het
Gstk1	T	C	6: 42,226,833 (GRCm39)	S200P	probably damaging	Het
Ifrd1	A	T	12: 40,262,333 (GRCm39)	F244L	probably null	Het
Ints7	T	C	1: 191,342,477 (GRCm39)	V491A	probably damaging	Het
Kcnd2	G	T	6: 21,216,508 (GRCm39)	E71*	probably null	Het
Ltbp3	A	T	19: 5,807,471 (GRCm39)	Q1123L	probably damaging	Het
Myo5a	A	G	9: 75,081,297 (GRCm39)	T961A	probably benign	Het
Naa25	T	A	5: 121,573,041 (GRCm39)	V720E	probably null	Het
Or52ab4	A	G	7: 102,987,929 (GRCm39)	I223V	probably damaging	Het
Or5b121	T	C	19: 13,507,799 (GRCm39)	I298T	probably benign	Het
Pcdhb15	C	A	18: 37,608,067 (GRCm39)	T433N	probably damaging	Het
Peli1	T	C	11: 21,090,560 (GRCm39)		probably benign	Het
Ptbp1	T	C	10: 79,695,458 (GRCm39)	V209A	probably damaging	Het
Ranbp2	A	G	10: 58,287,825 (GRCm39)	Y31C	probably damaging	Het
Smg1	G	A	7: 117,794,336 (GRCm39)		probably benign	Het
Stat2	A	G	10: 128,119,386 (GRCm39)	M457V	probably benign	Het
Usp53	T	A	3: 122,755,064 (GRCm39)	R130S	possibly damaging	Het
Vwa5b1	A	G	4: 138,333,852 (GRCm39)	S193P	probably benign	Het
Xrn2	A	G	2: 146,884,792 (GRCm39)	I626V	probably damaging	Het
Zfp574	G	A	7: 24,779,898 (GRCm39)	A307T	probably benign	Het

Other mutations in Trpm6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Trpm6	APN	19	18,761,272 (GRCm39)	splice site	probably benign
IGL00862:Trpm6	APN	19	18,804,892 (GRCm39)	missense	probably damaging	1.00
IGL01348:Trpm6	APN	19	18,855,015 (GRCm39)	missense	probably damaging	1.00
IGL01400:Trpm6	APN	19	18,803,158 (GRCm39)	nonsense	probably null
IGL01451:Trpm6	APN	19	18,786,933 (GRCm39)	missense	probably damaging	1.00
IGL01508:Trpm6	APN	19	18,773,894 (GRCm39)	nonsense	probably null
IGL01995:Trpm6	APN	19	18,807,691 (GRCm39)	splice site	probably benign
IGL02092:Trpm6	APN	19	18,749,695 (GRCm39)	missense	possibly damaging	0.59
IGL02152:Trpm6	APN	19	18,809,903 (GRCm39)	missense	possibly damaging	0.93
IGL02294:Trpm6	APN	19	18,831,427 (GRCm39)	missense	probably benign
IGL02329:Trpm6	APN	19	18,831,581 (GRCm39)	missense	probably benign	0.17
IGL02366:Trpm6	APN	19	18,755,874 (GRCm39)	splice site	probably benign
IGL02402:Trpm6	APN	19	18,764,120 (GRCm39)	missense	probably benign	0.18
IGL02457:Trpm6	APN	19	18,804,762 (GRCm39)	nonsense	probably null
IGL02457:Trpm6	APN	19	18,803,155 (GRCm39)	missense	probably damaging	1.00
IGL02684:Trpm6	APN	19	18,779,571 (GRCm39)	splice site	probably benign
IGL02705:Trpm6	APN	19	18,754,097 (GRCm39)	critical splice donor site	probably null
IGL02728:Trpm6	APN	19	18,787,016 (GRCm39)	missense	possibly damaging	0.71
IGL02742:Trpm6	APN	19	18,807,376 (GRCm39)	splice site	probably benign
IGL02818:Trpm6	APN	19	18,843,621 (GRCm39)	missense	probably benign	0.04
IGL02836:Trpm6	APN	19	18,790,846 (GRCm39)	missense	probably damaging	1.00
IGL03193:Trpm6	APN	19	18,803,236 (GRCm39)	missense	possibly damaging	0.94
IGL03227:Trpm6	APN	19	18,764,143 (GRCm39)	missense	probably benign	0.12
IGL03227:Trpm6	APN	19	18,796,483 (GRCm39)	missense	probably benign	0.01
IGL03231:Trpm6	APN	19	18,796,545 (GRCm39)	missense	probably benign
IGL03245:Trpm6	APN	19	18,855,065 (GRCm39)	missense	probably damaging	1.00
IGL03328:Trpm6	APN	19	18,815,446 (GRCm39)	missense	possibly damaging	0.94
IGL03341:Trpm6	APN	19	18,790,850 (GRCm39)	missense	probably benign
P0043:Trpm6	UTSW	19	18,855,129 (GRCm39)	missense	probably damaging	1.00
PIT4260001:Trpm6	UTSW	19	18,803,166 (GRCm39)	missense	possibly damaging	0.48
R0057:Trpm6	UTSW	19	18,764,119 (GRCm39)	missense	probably benign	0.05
R0115:Trpm6	UTSW	19	18,807,316 (GRCm39)	missense	probably damaging	0.98
R0119:Trpm6	UTSW	19	18,809,957 (GRCm39)	missense	probably benign	0.05
R0140:Trpm6	UTSW	19	18,796,558 (GRCm39)	splice site	probably null
R0267:Trpm6	UTSW	19	18,800,742 (GRCm39)	missense	probably benign
R0350:Trpm6	UTSW	19	18,861,321 (GRCm39)	splice site	probably null
R0373:Trpm6	UTSW	19	18,830,951 (GRCm39)	missense	probably benign	0.15
R0393:Trpm6	UTSW	19	18,756,008 (GRCm39)	missense	probably damaging	0.99
R0416:Trpm6	UTSW	19	18,760,389 (GRCm39)	splice site	probably benign
R0505:Trpm6	UTSW	19	18,851,266 (GRCm39)	splice site	probably benign
R0526:Trpm6	UTSW	19	18,770,240 (GRCm39)	missense	probably damaging	0.97
R0607:Trpm6	UTSW	19	18,849,585 (GRCm39)	missense	probably benign	0.00
R0609:Trpm6	UTSW	19	18,803,226 (GRCm39)	missense	probably damaging	0.97
R0714:Trpm6	UTSW	19	18,815,451 (GRCm39)	missense	possibly damaging	0.90
R1215:Trpm6	UTSW	19	18,773,862 (GRCm39)	missense	probably damaging	1.00
R1474:Trpm6	UTSW	19	18,773,859 (GRCm39)	missense	probably benign	0.28
R1512:Trpm6	UTSW	19	18,853,295 (GRCm39)	missense	probably benign
R1558:Trpm6	UTSW	19	18,764,192 (GRCm39)	missense	probably benign	0.04
R1597:Trpm6	UTSW	19	18,804,888 (GRCm39)	missense	probably damaging	0.98
R1618:Trpm6	UTSW	19	18,854,995 (GRCm39)	missense	possibly damaging	0.88
R1779:Trpm6	UTSW	19	18,833,581 (GRCm39)	missense	probably damaging	1.00
R1796:Trpm6	UTSW	19	18,804,931 (GRCm39)	missense	possibly damaging	0.90
R1799:Trpm6	UTSW	19	18,869,363 (GRCm39)	splice site	probably null
R1840:Trpm6	UTSW	19	18,843,631 (GRCm39)	missense	probably benign	0.21
R1991:Trpm6	UTSW	19	18,773,648 (GRCm39)	missense	probably benign	0.00
R2030:Trpm6	UTSW	19	18,831,629 (GRCm39)	missense	probably benign
R2073:Trpm6	UTSW	19	18,853,406 (GRCm39)	missense	probably damaging	1.00
R2074:Trpm6	UTSW	19	18,855,103 (GRCm39)	missense	probably damaging	1.00
R2096:Trpm6	UTSW	19	18,803,116 (GRCm39)	missense	probably damaging	0.97
R2103:Trpm6	UTSW	19	18,773,648 (GRCm39)	missense	probably benign	0.00
R2106:Trpm6	UTSW	19	18,790,714 (GRCm39)	missense	possibly damaging	0.95
R2117:Trpm6	UTSW	19	18,807,316 (GRCm39)	missense	probably damaging	0.98
R2850:Trpm6	UTSW	19	18,769,454 (GRCm39)	missense	possibly damaging	0.68
R3125:Trpm6	UTSW	19	18,831,795 (GRCm39)	missense	probably benign	0.05
R3719:Trpm6	UTSW	19	18,749,757 (GRCm39)	nonsense	probably null
R3779:Trpm6	UTSW	19	18,853,403 (GRCm39)	missense	possibly damaging	0.80
R4115:Trpm6	UTSW	19	18,809,921 (GRCm39)	missense	probably damaging	1.00
R4367:Trpm6	UTSW	19	18,804,889 (GRCm39)	missense	probably damaging	0.99
R4523:Trpm6	UTSW	19	18,773,864 (GRCm39)	missense	probably damaging	1.00
R4546:Trpm6	UTSW	19	18,809,841 (GRCm39)	missense	probably damaging	1.00
R4564:Trpm6	UTSW	19	18,809,961 (GRCm39)	missense	possibly damaging	0.95
R4565:Trpm6	UTSW	19	18,803,236 (GRCm39)	missense	probably damaging	1.00
R4697:Trpm6	UTSW	19	18,831,155 (GRCm39)	missense	probably benign	0.01
R4714:Trpm6	UTSW	19	18,831,564 (GRCm39)	missense	possibly damaging	0.93
R4750:Trpm6	UTSW	19	18,853,428 (GRCm39)	missense	probably damaging	0.99
R4771:Trpm6	UTSW	19	18,790,857 (GRCm39)	missense	probably damaging	0.97
R4791:Trpm6	UTSW	19	18,845,345 (GRCm39)	missense	probably benign	0.00
R4814:Trpm6	UTSW	19	18,839,576 (GRCm39)	missense	probably benign	0.11
R5028:Trpm6	UTSW	19	18,764,124 (GRCm39)	missense	probably damaging	1.00
R5237:Trpm6	UTSW	19	18,790,828 (GRCm39)	missense	probably damaging	1.00
R5615:Trpm6	UTSW	19	18,807,297 (GRCm39)	missense	probably damaging	0.96
R5642:Trpm6	UTSW	19	18,807,571 (GRCm39)	missense	probably damaging	1.00
R5645:Trpm6	UTSW	19	18,830,968 (GRCm39)	missense	probably damaging	1.00
R5726:Trpm6	UTSW	19	18,830,981 (GRCm39)	missense	probably damaging	1.00
R5832:Trpm6	UTSW	19	18,764,183 (GRCm39)	missense	possibly damaging	0.66
R5843:Trpm6	UTSW	19	18,833,539 (GRCm39)	missense	probably benign	0.04
R5955:Trpm6	UTSW	19	18,869,383 (GRCm39)	missense	possibly damaging	0.75
R6101:Trpm6	UTSW	19	18,831,112 (GRCm39)	nonsense	probably null
R6105:Trpm6	UTSW	19	18,831,112 (GRCm39)	nonsense	probably null
R6211:Trpm6	UTSW	19	18,760,492 (GRCm39)	missense	probably damaging	1.00
R6228:Trpm6	UTSW	19	18,831,655 (GRCm39)	missense	probably damaging	1.00
R6263:Trpm6	UTSW	19	18,831,472 (GRCm39)	missense	possibly damaging	0.94
R6453:Trpm6	UTSW	19	18,807,354 (GRCm39)	missense	probably damaging	1.00
R6562:Trpm6	UTSW	19	18,815,406 (GRCm39)	missense	probably damaging	1.00
R6624:Trpm6	UTSW	19	18,866,384 (GRCm39)	missense	probably damaging	1.00
R6624:Trpm6	UTSW	19	18,773,803 (GRCm39)	critical splice acceptor site	probably null
R6729:Trpm6	UTSW	19	18,807,661 (GRCm39)	missense	probably damaging	1.00
R6765:Trpm6	UTSW	19	18,855,129 (GRCm39)	missense	probably damaging	1.00
R6976:Trpm6	UTSW	19	18,760,527 (GRCm39)	missense	probably benign
R7103:Trpm6	UTSW	19	18,790,911 (GRCm39)	missense	possibly damaging	0.87
R7126:Trpm6	UTSW	19	18,831,397 (GRCm39)	nonsense	probably null
R7128:Trpm6	UTSW	19	18,789,137 (GRCm39)	missense	possibly damaging	0.92
R7157:Trpm6	UTSW	19	18,815,462 (GRCm39)	missense	possibly damaging	0.91
R7212:Trpm6	UTSW	19	18,831,155 (GRCm39)	missense	probably benign	0.01
R7263:Trpm6	UTSW	19	18,854,150 (GRCm39)	missense	probably damaging	1.00
R7268:Trpm6	UTSW	19	18,755,949 (GRCm39)	missense	probably benign	0.13
R7305:Trpm6	UTSW	19	18,853,455 (GRCm39)	missense	probably benign	0.30
R7498:Trpm6	UTSW	19	18,853,484 (GRCm39)	missense	probably damaging	1.00
R7558:Trpm6	UTSW	19	18,756,029 (GRCm39)	missense	probably damaging	0.96
R7590:Trpm6	UTSW	19	18,809,945 (GRCm39)	missense	probably benign	0.31
R7646:Trpm6	UTSW	19	18,845,325 (GRCm39)	missense	probably benign	0.10
R7650:Trpm6	UTSW	19	18,853,377 (GRCm39)	missense	possibly damaging	0.70
R7727:Trpm6	UTSW	19	18,831,613 (GRCm39)	missense	probably damaging	0.97
R7743:Trpm6	UTSW	19	18,804,772 (GRCm39)	missense	probably benign	0.03
R7747:Trpm6	UTSW	19	18,727,409 (GRCm39)	splice site	probably null
R7807:Trpm6	UTSW	19	18,807,220 (GRCm39)	missense	probably benign	0.11
R7870:Trpm6	UTSW	19	18,792,605 (GRCm39)	missense	probably benign	0.01
R7891:Trpm6	UTSW	19	18,754,074 (GRCm39)	missense	probably benign	0.01
R7955:Trpm6	UTSW	19	18,831,654 (GRCm39)	missense	probably benign	0.01
R7965:Trpm6	UTSW	19	18,853,474 (GRCm39)	missense	probably damaging	1.00
R7967:Trpm6	UTSW	19	18,756,023 (GRCm39)	missense	probably damaging	0.99
R7992:Trpm6	UTSW	19	18,792,714 (GRCm39)	missense	probably damaging	1.00
R8035:Trpm6	UTSW	19	18,770,226 (GRCm39)	missense	probably damaging	0.97
R8108:Trpm6	UTSW	19	18,789,154 (GRCm39)	missense	probably damaging	1.00
R8268:Trpm6	UTSW	19	18,851,225 (GRCm39)	missense	possibly damaging	0.85
R8411:Trpm6	UTSW	19	18,831,332 (GRCm39)	missense	probably benign	0.39
R8413:Trpm6	UTSW	19	18,809,849 (GRCm39)	missense	probably benign	0.00
R8534:Trpm6	UTSW	19	18,869,459 (GRCm39)	missense	probably benign	0.00
R8932:Trpm6	UTSW	19	18,815,366 (GRCm39)	missense	possibly damaging	0.87
R8990:Trpm6	UTSW	19	18,792,799 (GRCm39)	missense	probably damaging	1.00
R9403:Trpm6	UTSW	19	18,810,016 (GRCm39)	missense	possibly damaging	0.84
R9446:Trpm6	UTSW	19	18,815,462 (GRCm39)	missense	possibly damaging	0.91
R9463:Trpm6	UTSW	19	18,761,264 (GRCm39)	critical splice donor site	probably null
R9485:Trpm6	UTSW	19	18,755,978 (GRCm39)	missense	probably benign	0.06
R9536:Trpm6	UTSW	19	18,764,123 (GRCm39)	missense	probably damaging	1.00
R9549:Trpm6	UTSW	19	18,853,394 (GRCm39)	nonsense	probably null
R9564:Trpm6	UTSW	19	18,851,240 (GRCm39)	missense	possibly damaging	0.92
R9626:Trpm6	UTSW	19	18,790,846 (GRCm39)	missense	probably damaging	1.00
R9655:Trpm6	UTSW	19	18,869,466 (GRCm39)	missense	probably benign
R9721:Trpm6	UTSW	19	18,807,336 (GRCm39)	missense	probably benign	0.12
R9742:Trpm6	UTSW	19	18,800,766 (GRCm39)	missense	probably benign	0.09

Posted On

2016-08-02