Mutagenetix > Incidental Mutation

Incidental Mutation 'R1980:Tmod1'

222124

Institutional Source

Beutler Lab

Gene Symbol

Tmod1

Ensembl Gene

ENSMUSG00000028328

Gene Name

tropomodulin 1

Synonyms

E-Tmod, erythrocyte tropomodulin

MMRRC Submission

039992-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1980 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46038940-46116032 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 46061043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 10 (Y10S)

Ref Sequence

ENSEMBL: ENSMUSP00000103402 (fasta)

Gene Model

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

AlphaFold

P49813

Predicted Effect

probably damaging
Transcript: ENSMUST00000107773
AA Change: Y10S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103402
Gene: ENSMUSG00000028328
AA Change: Y10S

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: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.1%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	C	11: 100,386,702 (GRCm39)	I620S	possibly damaging	Het
Acot8	A	G	2: 164,636,964 (GRCm39)	F262S	probably damaging	Het
Adgb	C	T	10: 10,309,242 (GRCm39)	V246I	probably benign	Het
Akap9	T	A	5: 4,022,771 (GRCm39)	M1200K	probably damaging	Het
Alg11	T	A	8: 22,551,903 (GRCm39)	F16I	possibly damaging	Het
Apol7c	A	G	15: 77,410,244 (GRCm39)	V234A	probably benign	Het
Arhgap19	T	G	19: 41,776,784 (GRCm39)	I122L	possibly damaging	Het
Arhgef37	A	G	18: 61,641,767 (GRCm39)	S201P	probably damaging	Het
Asgr1	A	T	11: 69,945,772 (GRCm39)	D16V	probably damaging	Het
Camta2	A	T	11: 70,573,308 (GRCm39)	C227S	probably benign	Het
Cd22	A	T	7: 30,572,658 (GRCm39)	L317Q	probably damaging	Het
Cenpf	A	T	1: 189,386,112 (GRCm39)	I2056K	probably benign	Het
Cenpi	T	A	X: 133,218,782 (GRCm39)	F161L	possibly damaging	Het
Ciapin1	C	T	8: 95,559,161 (GRCm39)	V43I	probably benign	Het
Cox5b-ps	T	G	13: 21,685,294 (GRCm39)	T99P	possibly damaging	Het
Dach1	A	G	14: 98,068,777 (GRCm39)	L601P	probably damaging	Het
Ddx11	T	A	17: 66,455,734 (GRCm39)	L711Q	probably damaging	Het
Dsg1a	A	T	18: 20,471,707 (GRCm39)	N653I	probably damaging	Het
Fezf2	G	T	14: 12,344,405 (GRCm38)	P261T	probably benign	Het
Galnt5	T	C	2: 57,914,735 (GRCm39)		probably null	Het
Gemin5	A	G	11: 58,027,743 (GRCm39)	L935P	probably damaging	Het
Gm9507	A	T	10: 77,647,519 (GRCm39)	C53*	probably null	Het
Irgm2	A	G	11: 58,110,902 (GRCm39)	I198V	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klf12	A	C	14: 100,387,162 (GRCm39)		probably null	Het
Lpp	C	T	16: 24,480,451 (GRCm39)	P73L	probably damaging	Het
Lrrc34	G	A	3: 30,696,890 (GRCm39)	H127Y	probably benign	Het
Lyar	T	C	5: 38,382,053 (GRCm39)	S12P	probably damaging	Het
Maml3	A	G	3: 52,011,473 (GRCm39)	I31T	unknown	Het
Mei1	A	G	15: 81,987,513 (GRCm39)	N859S	probably benign	Het
Minar2	T	A	18: 59,208,739 (GRCm39)	M129K	probably damaging	Het
Mysm1	A	T	4: 94,840,450 (GRCm39)	N655K	probably benign	Het
Npnt	T	C	3: 132,653,893 (GRCm39)	I29M	probably benign	Het
Nrxn1	A	G	17: 91,395,746 (GRCm39)	W137R	probably benign	Het
Numb	C	T	12: 83,844,118 (GRCm39)		probably null	Het
Obsl1	A	G	1: 75,482,480 (GRCm39)	F130S	probably damaging	Het
Or2h1	T	G	17: 37,404,295 (GRCm39)	Q157P	probably damaging	Het
Or4k47	T	A	2: 111,451,586 (GRCm39)	I278F	probably benign	Het
Pbx4	T	C	8: 70,322,776 (GRCm39)	V294A	probably benign	Het
Pde4dip	A	C	3: 97,664,312 (GRCm39)	L524R	possibly damaging	Het
Plppr1	G	A	4: 49,337,655 (GRCm39)	A319T	probably benign	Het
Ppid	A	T	3: 79,500,925 (GRCm39)	I32F	probably damaging	Het
Ppp4r3c1	A	T	X: 88,975,051 (GRCm39)	V382E	probably damaging	Het
Prkcsh	A	G	9: 21,924,164 (GRCm39)	D458G	probably damaging	Het
Prr27	A	G	5: 87,991,261 (GRCm39)	E291G	probably benign	Het
Psme4	A	T	11: 30,782,615 (GRCm39)	K923N	possibly damaging	Het
Rab25	T	C	3: 88,450,765 (GRCm39)	T45A	probably damaging	Het
Rapgef1	C	T	2: 29,612,239 (GRCm39)	P630S	probably benign	Het
Rasa2	T	C	9: 96,452,821 (GRCm39)	D355G	probably damaging	Het
Rel	C	T	11: 23,692,761 (GRCm39)	G424D	probably benign	Het
Rtn4	A	T	11: 29,658,634 (GRCm39)	E929D	probably benign	Het
Samt3	A	C	X: 85,090,740 (GRCm39)	M211L	probably benign	Het
Slk	T	G	19: 47,600,428 (GRCm39)	I151S	probably damaging	Het
Spin1	T	A	13: 51,298,506 (GRCm39)	V175D	probably damaging	Het
Ssxb10	A	G	X: 8,197,258 (GRCm39)	D77G	probably benign	Het
Ticam1	C	T	17: 56,578,555 (GRCm39)	R180H	probably damaging	Het
Tmem151b	G	C	17: 45,856,387 (GRCm39)	P351R	possibly damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpm1	T	C	7: 63,858,182 (GRCm39)	Y225H	possibly damaging	Het
Ttc17	T	C	2: 94,157,049 (GRCm39)	N411S	probably benign	Het
Tyro3	A	G	2: 119,639,298 (GRCm39)	D335G	probably benign	Het
Unc79	C	A	12: 102,977,538 (GRCm39)	Y180*	probably null	Het
Upp1	A	T	11: 9,084,872 (GRCm39)	D197V	possibly damaging	Het
Vmn1r226	T	A	17: 20,908,308 (GRCm39)	M180K	possibly damaging	Het
Vtn	T	A	11: 78,392,724 (GRCm39)	I434N	probably damaging	Het
Zfp329	T	A	7: 12,545,395 (GRCm39)	N43I	probably benign	Het
Zfp819	A	G	7: 43,265,885 (GRCm39)	T47A	probably benign	Het
Zyg11b	G	A	4: 108,123,127 (GRCm39)	T280I	probably damaging	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
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
R7212:Tmod1	UTSW	4	46,093,951 (GRCm39)	nonsense	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'- GGGTAGAGAACTAACTCAAATTAGCC -3'
(R):5'- TGGAGGCTACATCATCCCAAC -3'

Sequencing Primer
(F):5'- GAGAACTAACTCAAATTAGCCACTAC -3'
(R):5'- TCCCAACACACTGTCATATAAGGAG -3'

Posted On

2014-08-25