Mutagenetix > Incidental Mutation

Incidental Mutation 'R1748:Tmem144'

194102

Institutional Source

Beutler Lab

Gene Symbol

Tmem144

Ensembl Gene

ENSMUSG00000027956

Gene Name

transmembrane protein 144

Synonyms

5730537D05Rik, 1110057I03Rik

MMRRC Submission

039780-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R1748 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79719871-79760080 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 79732594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 228 (S228N)

Ref Sequence

ENSEMBL: ENSMUSP00000127837 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029568] [ENSMUST00000168038]

AlphaFold

Q8VEH0

Predicted Effect

probably damaging
Transcript: ENSMUST00000029568
AA Change: S228N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029568
Gene: ENSMUSG00000027956
AA Change: S228N

Domain	Start	End	E-Value	Type
Pfam:DUF1632	11	266	3.7e-107	PFAM
Pfam:Sugar_transport	238	348	3.6e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000168038
AA Change: S228N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127837
Gene: ENSMUSG00000027956
AA Change: S228N

Domain	Start	End	E-Value	Type
Pfam:TMEM144	9	347	9.1e-142	PFAM
Pfam:Sugar_transport	238	348	4.9e-13	PFAM

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	T	16: 20,152,338 (GRCm39)	Q1403K	probably benign	Het
Adamts12	G	A	15: 11,241,548 (GRCm39)	M373I	probably damaging	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Aire	T	C	10: 77,879,314 (GRCm39)	H15R	probably damaging	Het
Aldh3b2	T	C	19: 4,027,572 (GRCm39)	F38L	probably damaging	Het
Alk	A	C	17: 72,910,416 (GRCm39)	C97G	probably benign	Het
Ano8	T	C	8: 71,931,602 (GRCm39)		probably benign	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arsk	T	A	13: 76,210,529 (GRCm39)	H506L	probably benign	Het
Asgr2	G	T	11: 69,987,658 (GRCm39)	R52L	probably damaging	Het
Atp2a1	A	G	7: 126,058,780 (GRCm39)	I145T	possibly damaging	Het
Atrnl1	A	G	19: 57,703,134 (GRCm39)	T1051A	probably damaging	Het
Cacna1e	A	T	1: 154,362,315 (GRCm39)	V424D	possibly damaging	Het
Capn3	T	C	2: 120,327,494 (GRCm39)	V574A	probably benign	Het
Capzb	C	A	4: 138,984,679 (GRCm39)	D67E	probably damaging	Het
Ccdc68	A	T	18: 70,089,062 (GRCm39)	T202S	probably benign	Het
Ccser2	T	C	14: 36,618,270 (GRCm39)	K123R	probably damaging	Het
Ccser2	T	A	14: 36,618,271 (GRCm39)	K123*	probably null	Het
Ces2h	T	C	8: 105,744,473 (GRCm39)	I316T	probably benign	Het
Chd3	T	G	11: 69,255,523 (GRCm39)	K122Q	possibly damaging	Het
Col12a1	T	C	9: 79,580,279 (GRCm39)	T1533A	probably benign	Het
Cr2	T	A	1: 194,838,213 (GRCm39)	K1084*	probably null	Het
Ddx28	A	G	8: 106,737,314 (GRCm39)	L248P	probably benign	Het
Depdc5	A	G	5: 33,075,286 (GRCm39)	E488G	probably benign	Het
Dld	T	C	12: 31,384,745 (GRCm39)	T305A	probably benign	Het
Dok5	T	A	2: 170,683,373 (GRCm39)	F211L	probably damaging	Het
Duox2	T	C	2: 122,117,532 (GRCm39)	D934G	probably benign	Het
Eif3a	G	A	19: 60,755,236 (GRCm39)	T982I	unknown	Het
Erbb2	G	T	11: 98,326,161 (GRCm39)	R979L	probably benign	Het
Espl1	G	T	15: 102,206,964 (GRCm39)	V143L	possibly damaging	Het
Fanci	T	C	7: 79,080,236 (GRCm39)	L598P	probably damaging	Het
Fat2	T	A	11: 55,147,473 (GRCm39)	E3923V	probably damaging	Het
Fhod3	A	T	18: 24,903,550 (GRCm39)	K95*	probably null	Het
Gpr108	G	T	17: 57,543,217 (GRCm39)	T484K	probably damaging	Het
Hao1	T	A	2: 134,340,238 (GRCm39)	N351I	possibly damaging	Het
Hepacam	A	T	9: 37,295,189 (GRCm39)	N308I	possibly damaging	Het
Herc2	T	C	7: 55,798,571 (GRCm39)		probably null	Het
Hltf	T	C	3: 20,130,685 (GRCm39)	I301T	probably benign	Het
Igsf10	A	T	3: 59,226,514 (GRCm39)	N2386K	probably damaging	Het
Ikbke	G	T	1: 131,186,937 (GRCm39)	T585K	probably benign	Het
Iqgap3	A	G	3: 88,021,287 (GRCm39)	T448A	possibly damaging	Het
Kl	T	C	5: 150,904,450 (GRCm39)	S401P	possibly damaging	Het
Lama4	T	C	10: 38,941,615 (GRCm39)	V684A	probably benign	Het
Lgals8	A	T	13: 12,469,824 (GRCm39)	F45Y	probably damaging	Het
Lgalsl	G	A	11: 20,776,491 (GRCm39)	R134C	probably benign	Het
Lmcd1	T	C	6: 112,306,875 (GRCm39)	V349A	probably benign	Het
Lrp1b	T	A	2: 41,618,718 (GRCm39)	N119Y	possibly damaging	Het
Lrrc73	T	A	17: 46,566,621 (GRCm39)	I157N	probably damaging	Het
Map3k8	A	G	18: 4,334,766 (GRCm39)	Y293H	probably damaging	Het
Mybphl	A	T	3: 108,282,400 (GRCm39)		probably null	Het
Naa12	T	C	18: 80,255,161 (GRCm39)	S152P	probably benign	Het
Ndrg1	A	G	15: 66,802,930 (GRCm39)	M140T	possibly damaging	Het
Or2n1e	T	A	17: 38,585,997 (GRCm39)	C112S	possibly damaging	Het
Or8b38	A	G	9: 37,972,796 (GRCm39)	Y60C	probably damaging	Het
Pbx2	T	C	17: 34,812,951 (GRCm39)	S76P	possibly damaging	Het
Plcl2	T	A	17: 50,913,826 (GRCm39)	S278R	probably benign	Het
Polr3d	A	T	14: 70,676,915 (GRCm39)	L393*	probably null	Het
Prmt6	T	C	3: 110,157,683 (GRCm39)	Q202R	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Sag	T	A	1: 87,759,662 (GRCm39)	I300N	probably damaging	Het
Sap25	T	A	5: 137,640,180 (GRCm39)		probably null	Het
Scarb2	A	G	5: 92,608,695 (GRCm39)	L177P	probably damaging	Het
Sh3pxd2b	A	T	11: 32,372,203 (GRCm39)	N457Y	possibly damaging	Het
Siae	T	A	9: 37,542,902 (GRCm39)		probably null	Het
Slc36a1	T	C	11: 55,119,150 (GRCm39)	L375P	probably damaging	Het
Smg8	A	G	11: 86,976,594 (GRCm39)	V329A	probably damaging	Het
Tas2r113	A	T	6: 132,870,695 (GRCm39)	Y241F	probably damaging	Het
Tm9sf3	T	G	19: 41,244,668 (GRCm39)	S70R	probably benign	Het
Tmem45a	C	A	16: 56,642,701 (GRCm39)	V157F	possibly damaging	Het
Tpbg	G	T	9: 85,726,429 (GRCm39)	V133L	probably damaging	Het
Trpv3	G	A	11: 73,186,209 (GRCm39)	V667I	possibly damaging	Het
Ube2c	T	C	2: 164,613,241 (GRCm39)	F53S	probably damaging	Het
Vmn1r78	T	A	7: 11,887,250 (GRCm39)	V287D	probably damaging	Het
Vmn2r114	T	A	17: 23,527,035 (GRCm39)	D499V	probably benign	Het
Zpld2	C	G	4: 133,927,610 (GRCm39)	C381S	probably damaging	Het
Zpld2	T	A	4: 133,929,430 (GRCm39)	T292S	possibly damaging	Het

Other mutations in Tmem144

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00594:Tmem144	APN	3	79,746,474 (GRCm39)	missense	probably benign	0.19
IGL01924:Tmem144	APN	3	79,746,501 (GRCm39)	missense	probably damaging	1.00
IGL02080:Tmem144	APN	3	79,730,066 (GRCm39)	splice site	probably benign
IGL02191:Tmem144	APN	3	79,734,159 (GRCm39)	missense	possibly damaging	0.59
IGL02880:Tmem144	APN	3	79,734,929 (GRCm39)	missense	probably benign	0.00
PIT4486001:Tmem144	UTSW	3	79,734,174 (GRCm39)	missense	probably benign	0.00
R0080:Tmem144	UTSW	3	79,746,580 (GRCm39)	start gained	probably benign
R0081:Tmem144	UTSW	3	79,746,580 (GRCm39)	start gained	probably benign
R0164:Tmem144	UTSW	3	79,746,580 (GRCm39)	start gained	probably benign
R0172:Tmem144	UTSW	3	79,746,580 (GRCm39)	start gained	probably benign
R0173:Tmem144	UTSW	3	79,746,580 (GRCm39)	start gained	probably benign
R0284:Tmem144	UTSW	3	79,746,580 (GRCm39)	start gained	probably benign
R0285:Tmem144	UTSW	3	79,746,580 (GRCm39)	start gained	probably benign
R0288:Tmem144	UTSW	3	79,746,580 (GRCm39)	start gained	probably benign
R0445:Tmem144	UTSW	3	79,732,661 (GRCm39)	missense	probably benign	0.01
R0549:Tmem144	UTSW	3	79,730,051 (GRCm39)	missense	probably damaging	1.00
R0687:Tmem144	UTSW	3	79,746,580 (GRCm39)	start gained	probably benign
R1720:Tmem144	UTSW	3	79,732,606 (GRCm39)	missense	probably damaging	1.00
R1937:Tmem144	UTSW	3	79,732,611 (GRCm39)	missense	probably damaging	0.99
R1955:Tmem144	UTSW	3	79,734,164 (GRCm39)	missense	probably benign	0.13
R1978:Tmem144	UTSW	3	79,732,707 (GRCm39)	splice site	probably null
R2025:Tmem144	UTSW	3	79,735,018 (GRCm39)	splice site	probably null
R5241:Tmem144	UTSW	3	79,721,431 (GRCm39)	missense	probably benign	0.13
R6674:Tmem144	UTSW	3	79,746,490 (GRCm39)	missense	possibly damaging	0.91
R6862:Tmem144	UTSW	3	79,739,406 (GRCm39)	missense	probably benign
R7536:Tmem144	UTSW	3	79,734,964 (GRCm39)	missense	probably benign
R8033:Tmem144	UTSW	3	79,732,624 (GRCm39)	missense	probably benign
R8746:Tmem144	UTSW	3	79,732,655 (GRCm39)	missense	probably damaging	0.97
R8748:Tmem144	UTSW	3	79,743,539 (GRCm39)	critical splice donor site	probably null
R9223:Tmem144	UTSW	3	79,734,964 (GRCm39)	missense	probably benign
R9641:Tmem144	UTSW	3	79,734,200 (GRCm39)	missense	probably benign	0.10
R9658:Tmem144	UTSW	3	79,729,991 (GRCm39)	missense	probably damaging	1.00
RF012:Tmem144	UTSW	3	79,729,961 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGCAGTGGAAGTGAATCCTGACC -3'
(R):5'- TCCTCGTGACTCACAGAGTCCAAG -3'

Sequencing Primer
(F):5'- GTGAATCCTGACCATAGTTGAATCC -3'
(R):5'- AGGTCTGGCTTCTGCTAAAC -3'

Posted On

2014-05-23