Mutagenetix > Incidental Mutation

Incidental Mutation 'R6862:Tmem144'

535675

Institutional Source

Beutler Lab

Gene Symbol

Tmem144

Ensembl Gene

ENSMUSG00000027956

Gene Name

transmembrane protein 144

Synonyms

5730537D05Rik, 1110057I03Rik

MMRRC Submission

045026-MU

Accession Numbers

Essential gene?

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

Stock #

R6862 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79719871-79760080 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79739406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 126 (M126L)

Ref Sequence

ENSEMBL: ENSMUSP00000141832 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029568] [ENSMUST00000168038] [ENSMUST00000193410]

AlphaFold

Q8VEH0

Predicted Effect

probably benign
Transcript: ENSMUST00000029568
AA Change: M126L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029568
Gene: ENSMUSG00000027956
AA Change: M126L

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 benign
Transcript: ENSMUST00000168038
AA Change: M126L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127837
Gene: ENSMUSG00000027956
AA Change: M126L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000193410
AA Change: M126L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141832
Gene: ENSMUSG00000027956
AA Change: M126L

Domain	Start	End	E-Value	Type
Pfam:DUF1632	11	137	7.3e-58	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	C	T	3: 137,891,949 (GRCm39)		probably benign	Het
Adgra2	T	A	8: 27,603,465 (GRCm39)	C417S	probably damaging	Het
Adgra2	C	A	8: 27,603,464 (GRCm39)	H416Q	probably benign	Het
Aff3	C	A	1: 38,445,578 (GRCm39)	R307L	possibly damaging	Het
Arhgap17	T	C	7: 122,921,124 (GRCm39)	D121G	probably damaging	Het
Ascc3	G	T	10: 50,725,742 (GRCm39)	R2155I	probably null	Het
Ccdc115	C	T	1: 34,478,364 (GRCm39)	S19N	possibly damaging	Het
Ccser2	T	C	14: 36,662,038 (GRCm39)	N382S	probably benign	Het
Cct6b	A	T	11: 82,610,785 (GRCm39)	V500E	probably damaging	Het
Cenpo	A	T	12: 4,266,539 (GRCm39)	Y190N	probably damaging	Het
Cfh	T	A	1: 140,030,100 (GRCm39)	K924N	probably damaging	Het
Col4a1	A	G	8: 11,252,926 (GRCm39)		probably benign	Het
Coro1b	T	C	19: 4,200,770 (GRCm39)	V234A	probably benign	Het
Crot	T	C	5: 9,039,641 (GRCm39)	K69E	probably damaging	Het
Cyp2d11	A	T	15: 82,274,339 (GRCm39)	H347Q	probably benign	Het
Efcab3	A	T	11: 104,612,284 (GRCm39)	K636*	probably null	Het
Fbn2	T	A	18: 58,257,393 (GRCm39)	I325F	probably benign	Het
Fbxw4	T	A	19: 45,571,187 (GRCm39)	R41S	probably benign	Het
Fn1	T	A	1: 71,653,066 (GRCm39)	I1308F	probably benign	Het
Frem1	C	A	4: 82,930,251 (GRCm39)	E232*	probably null	Het
Gabrg3	T	C	7: 56,423,059 (GRCm39)	Q213R	possibly damaging	Het
Garin3	G	A	11: 46,298,418 (GRCm39)	G574D	possibly damaging	Het
Gsdme	A	T	6: 50,204,378 (GRCm39)	V193E	probably damaging	Het
Hadha	C	A	5: 30,352,977 (GRCm39)		probably null	Het
Hdgfl2	C	A	17: 56,406,211 (GRCm39)	A533E	probably damaging	Het
Hivep2	T	C	10: 14,006,327 (GRCm39)	F975S	probably damaging	Het
Htatip2	T	A	7: 49,420,666 (GRCm39)	S171T	probably benign	Het
Ift57	A	T	16: 49,584,167 (GRCm39)	I307F	possibly damaging	Het
Il22	A	T	10: 118,041,715 (GRCm39)	R110W	probably benign	Het
Kcnk13	G	T	12: 100,027,948 (GRCm39)	R341L	probably damaging	Het
Kif2b	G	A	11: 91,466,741 (GRCm39)	T514M	probably damaging	Het
Kmt2c	A	C	5: 25,515,515 (GRCm39)	I2776S	probably damaging	Het
Ly9	T	C	1: 171,428,723 (GRCm39)	D189G	probably benign	Het
Mal2	T	C	15: 54,451,753 (GRCm39)	V58A	probably damaging	Het
Mettl21e	T	A	1: 44,245,526 (GRCm39)	N240I	probably benign	Het
Msantd5f1	A	G	4: 73,605,621 (GRCm39)	N344S	probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Nacc1	G	A	8: 85,399,844 (GRCm39)	R458C	probably damaging	Het
Ncapd3	T	C	9: 26,942,105 (GRCm39)	C14R	probably damaging	Het
Obscn	G	T	11: 58,886,279 (GRCm39)		probably benign	Het
Or13c3	A	G	4: 52,855,695 (GRCm39)	F273L	probably benign	Het
Or1j4	A	T	2: 36,740,234 (GRCm39)	M59L	possibly damaging	Het
Or8d23	T	A	9: 38,841,772 (GRCm39)	F102I	possibly damaging	Het
Parp12	T	C	6: 39,088,670 (GRCm39)	I189V	probably benign	Het
Pde4dip	C	A	3: 97,674,340 (GRCm39)	R192L	possibly damaging	Het
Pdlim4	C	A	11: 53,946,674 (GRCm39)	E204D	probably damaging	Het
Phf3	T	C	1: 30,853,063 (GRCm39)	Q1049R	probably damaging	Het
Prr14l	A	G	5: 32,985,103 (GRCm39)	L1464P	probably damaging	Het
Psg25	C	T	7: 18,255,323 (GRCm39)	V398I	probably benign	Het
Ptprq	T	A	10: 107,522,086 (GRCm39)	N622Y	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Tex36	A	G	7: 133,189,002 (GRCm39)	L190P	probably benign	Het
Tk1	A	G	11: 117,707,320 (GRCm39)	C156R	probably damaging	Het
Tmem208	G	A	8: 106,054,862 (GRCm39)		probably null	Het
Trappc13	T	C	13: 104,286,660 (GRCm39)	Q199R	probably damaging	Het
Trim30b	T	A	7: 104,012,960 (GRCm39)	K156N	probably damaging	Het
Trps1	A	G	15: 50,695,001 (GRCm39)		probably null	Het
Washc4	T	A	10: 83,394,757 (GRCm39)	F329Y	possibly damaging	Het
Zbed5	T	G	5: 129,932,026 (GRCm39)	D658E	probably benign	Het
Zfyve28	T	G	5: 34,445,449 (GRCm39)	K11N	probably benign	Het
Zp1	C	T	19: 10,893,877 (GRCm39)	V443I	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
R1748:Tmem144	UTSW	3	79,732,594 (GRCm39)	missense	probably damaging	0.99
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
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'- TGTGCTGGAAATAAGGTCTGTC -3'
(R):5'- CCAGTGCCTCAACTGCTCTT -3'

Sequencing Primer
(F):5'- CAGGGAATTGGGCACTCTTCTC -3'
(R):5'- GGCACAGTATGGAAAGTAGTTTATCC -3'

Posted On

2018-10-18