Mutagenetix > Incidental Mutation

Incidental Mutation 'R7212:Tmod1'

561130

Institutional Source

Beutler Lab

Gene Symbol

Tmod1

Ensembl Gene

ENSMUSG00000028328

Gene Name

tropomodulin 1

Synonyms

E-Tmod, erythrocyte tropomodulin

MMRRC Submission

045340-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7212 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46038940-46116032 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 46093951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 221 (K221*)

Ref Sequence

ENSEMBL: ENSMUSP00000103402 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107773] [ENSMUST00000156200]

AlphaFold

P49813

Predicted Effect

probably null
Transcript: ENSMUST00000107773
AA Change: K221*

SMART Domains

Protein: ENSMUSP00000103402
Gene: ENSMUSG00000028328
AA Change: K221*

Domain	Start	End	E-Value	Type
Pfam:Tropomodulin	3	143	6.3e-64	PFAM
PDB:1IO0\|A	160	344	1e-115	PDB
SCOP:d1a4ya_	181	312	3e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156200

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tropomodulin family. The encoded protein is an actin-capping protein that regulates tropomyosin by binding to its N-terminus, inhibiting depolymerization and elongation of the pointed end of actin filaments and thereby influencing the structure of the erythrocyte membrane skeleton. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous inactivation of this locus results in aborted heart development and consequent embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	C	T	6: 83,138,654 (GRCm39)	A193V	probably benign	Het
Aatf	C	T	11: 84,340,006 (GRCm39)	R435Q	probably damaging	Het
Abca13	A	G	11: 9,248,854 (GRCm39)	H2867R	probably benign	Het
Abcd2	C	T	15: 91,043,326 (GRCm39)	A621T	possibly damaging	Het
Actl11	T	A	9: 107,805,856 (GRCm39)	S60T	probably damaging	Het
Adam28	T	A	14: 68,874,846 (GRCm39)	N277I	probably damaging	Het
Adamts13	T	A	2: 26,896,326 (GRCm39)	C1240S	probably damaging	Het
Arhgap27	C	T	11: 103,251,581 (GRCm39)	R49Q	probably damaging	Het
Armc10	T	C	5: 21,865,581 (GRCm39)	S209P	probably damaging	Het
Atp6v0a1	T	C	11: 100,934,783 (GRCm39)	F617L	probably benign	Het
Bap1	T	A	14: 30,973,580 (GRCm39)	N2K	probably damaging	Het
Bltp1	C	A	3: 37,102,158 (GRCm39)	N1363K		Het
Cass4	T	A	2: 172,269,106 (GRCm39)	L396*	probably null	Het
Ccdc40	A	G	11: 119,155,270 (GRCm39)	Q1170R	probably damaging	Het
Cdhr5	C	T	7: 140,852,572 (GRCm39)	R348H	probably damaging	Het
Cenpj	A	G	14: 56,790,109 (GRCm39)	S647P	probably benign	Het
Chordc1	T	A	9: 18,206,647 (GRCm39)		probably null	Het
Chordc1	T	C	9: 18,212,308 (GRCm39)	S41P	probably damaging	Het
Ckm	T	C	7: 19,148,978 (GRCm39)		probably null	Het
Clca3a1	A	C	3: 144,711,727 (GRCm39)	I756S	probably damaging	Het
Clcn1	T	C	6: 42,268,323 (GRCm39)	V165A	possibly damaging	Het
Clec4a4	T	A	6: 122,968,704 (GRCm39)		probably null	Het
Cog7	T	C	7: 121,576,537 (GRCm39)	K130E	probably damaging	Het
Coq7	A	G	7: 118,109,271 (GRCm39)	I259T	unknown	Het
Cp	T	C	3: 20,029,130 (GRCm39)	S536P	probably damaging	Het
Cyp2d10	T	A	15: 82,288,447 (GRCm39)		probably null	Het
Dcst2	A	G	3: 89,273,607 (GRCm39)	I162V	probably benign	Het
Dennd4c	A	G	4: 86,721,228 (GRCm39)	E630G	probably damaging	Het
Dpt	A	T	1: 164,624,484 (GRCm39)	I62F	probably benign	Het
Ednrb	T	A	14: 104,080,444 (GRCm39)	I157F	probably damaging	Het
Ext1	A	T	15: 53,208,558 (GRCm39)	W68R	probably benign	Het
Fgf4	A	G	7: 144,416,523 (GRCm39)	K152E	probably benign	Het
G530012D18Rik	A	T	1: 85,504,864 (GRCm39)	T90S	unknown	Het
Galnt17	T	C	5: 130,992,949 (GRCm39)	T322A	possibly damaging	Het
Gcm1	A	T	9: 77,966,925 (GRCm39)	D48V	possibly damaging	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gm49358	G	T	10: 86,661,071 (GRCm39)	R353L	probably damaging	Het
Golga4	A	G	9: 118,365,908 (GRCm39)	E320G	possibly damaging	Het
Herc3	T	C	6: 58,895,758 (GRCm39)	I1002T	probably damaging	Het
Hip1r	T	A	5: 124,111,845 (GRCm39)	V7E	possibly damaging	Het
Hipk1	G	A	3: 103,684,926 (GRCm39)	Q230*	probably null	Het
Igsf9b	C	T	9: 27,242,992 (GRCm39)	P726L	probably damaging	Het
Itgb6	T	C	2: 60,464,998 (GRCm39)	I345V	probably damaging	Het
Lhx4	G	T	1: 155,600,699 (GRCm39)	Q29K	probably benign	Het
Manba	A	G	3: 135,273,396 (GRCm39)	T777A	probably benign	Het
Mcm3ap	A	G	10: 76,337,145 (GRCm39)	D1360G	probably benign	Het
Meltf	T	A	16: 31,709,632 (GRCm39)		probably null	Het
Mmp14	T	G	14: 54,673,336 (GRCm39)	D81E	probably damaging	Het
Naalad2	T	C	9: 18,275,337 (GRCm39)		probably null	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Or7a38	A	T	10: 78,753,339 (GRCm39)	I222L	possibly damaging	Het
Or8b35	T	A	9: 37,904,253 (GRCm39)	M150K	possibly damaging	Het
Pacs2	A	G	12: 113,025,312 (GRCm39)	D488G	possibly damaging	Het
Prr5	T	G	15: 84,629,993 (GRCm39)	L108R	probably null	Het
Psg23	A	G	7: 18,341,064 (GRCm39)	S397P	probably benign	Het
Rfpl4	C	A	7: 5,113,659 (GRCm39)	R174L	probably damaging	Het
Runx3	T	A	4: 134,880,090 (GRCm39)	I3N	probably damaging	Het
Scn5a	A	T	9: 119,372,451 (GRCm39)	N214K	possibly damaging	Het
Slc27a1	T	C	8: 72,037,092 (GRCm39)	I412T	probably damaging	Het
Sptbn4	T	G	7: 27,116,210 (GRCm39)	T530P	probably benign	Het
Tex15	A	T	8: 34,060,854 (GRCm39)	R95*	probably null	Het
Tex15	T	C	8: 34,063,023 (GRCm39)	S818P	probably damaging	Het
Tpm3	G	A	3: 89,998,361 (GRCm39)	D272N	probably benign	Het
Trpm6	T	C	19: 18,831,155 (GRCm39)	V1340A	probably benign	Het
Ugt2b5	A	T	5: 87,273,131 (GRCm39)	C512S	probably benign	Het
Vmn2r82	A	T	10: 79,215,268 (GRCm39)	E417V	probably benign	Het
Wfdc11	T	C	2: 164,506,366 (GRCm39)	N60S	probably benign	Het
Zfp217	A	T	2: 169,956,072 (GRCm39)	S975R	probably benign	Het
Zfr	C	T	15: 12,146,309 (GRCm39)	Q287*	probably null	Het

Other mutations in Tmod1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03375:Tmod1	APN	4	46,096,999 (GRCm39)	missense	probably damaging	1.00
R1445:Tmod1	UTSW	4	46,090,884 (GRCm39)	missense	probably damaging	1.00
R1513:Tmod1	UTSW	4	46,083,549 (GRCm39)	missense	possibly damaging	0.61
R1888:Tmod1	UTSW	4	46,097,069 (GRCm39)	synonymous	silent
R1980:Tmod1	UTSW	4	46,061,043 (GRCm39)	missense	probably damaging	1.00
R2914:Tmod1	UTSW	4	46,092,259 (GRCm39)	missense	probably damaging	1.00
R3725:Tmod1	UTSW	4	46,097,026 (GRCm39)	missense	probably benign	0.11
R3726:Tmod1	UTSW	4	46,097,026 (GRCm39)	missense	probably benign	0.11
R3952:Tmod1	UTSW	4	46,078,315 (GRCm39)	missense	probably damaging	0.98
R4854:Tmod1	UTSW	4	46,090,920 (GRCm39)	missense	possibly damaging	0.80
R4989:Tmod1	UTSW	4	46,090,872 (GRCm39)	missense	probably damaging	0.97
R6254:Tmod1	UTSW	4	46,078,469 (GRCm39)	splice site	probably null
R7570:Tmod1	UTSW	4	46,083,632 (GRCm39)	missense	probably benign	0.15
R7572:Tmod1	UTSW	4	46,083,593 (GRCm39)	missense	possibly damaging	0.53
R9336:Tmod1	UTSW	4	46,078,368 (GRCm39)	missense	probably damaging	1.00
R9438:Tmod1	UTSW	4	46,093,958 (GRCm39)	missense	probably damaging	1.00
Z1176:Tmod1	UTSW	4	46,092,271 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATCCTCATGGCCCATTCAGAG -3'
(R):5'- GGGCTGTCTCATCTGTCTGTAC -3'

Sequencing Primer
(F):5'- TGGCCCATTCAGAGACTCAC -3'
(R):5'- CCTCCTGGCTCCTAGTGAG -3'

Posted On

2019-06-26