Mutagenetix > Incidental Mutation

Incidental Mutation 'R4870:Tmem44'

376530

Institutional Source

Beutler Lab

Gene Symbol

Tmem44

Ensembl Gene

ENSMUSG00000022537

Gene Name

transmembrane protein 44

Synonyms

9330161C17Rik, 1700007N03Rik

MMRRC Submission

042480-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R4870 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30330673-30369643 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30359591 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 46 (L46Q)

Ref Sequence

ENSEMBL: ENSMUSP00000116531 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089775] [ENSMUST00000140402] [ENSMUST00000144001] [ENSMUST00000149110]

AlphaFold

E9Q4M0

Predicted Effect

probably benign
Transcript: ENSMUST00000089775

SMART Domains

Protein: ENSMUSP00000087207
Gene: ENSMUSG00000022537

Domain	Start	End	E-Value	Type
transmembrane domain	26	48	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125260

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125559

Predicted Effect

probably damaging
Transcript: ENSMUST00000140402
AA Change: L249Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123494
Gene: ENSMUSG00000022537
AA Change: L249Q

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	63	85	N/A	INTRINSIC
transmembrane domain	90	112	N/A	INTRINSIC
transmembrane domain	133	155	N/A	INTRINSIC
transmembrane domain	179	197	N/A	INTRINSIC
transmembrane domain	209	231	N/A	INTRINSIC
transmembrane domain	246	268	N/A	INTRINSIC
low complexity region	273	287	N/A	INTRINSIC
low complexity region	383	395	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144001

SMART Domains

Protein: ENSMUSP00000119318
Gene: ENSMUSG00000022537

Domain	Start	End	E-Value	Type
transmembrane domain	26	48	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144491

Predicted Effect

probably damaging
Transcript: ENSMUST00000149110
AA Change: L46Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116531
Gene: ENSMUSG00000022537
AA Change: L46Q

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
transmembrane domain	44	65	N/A	INTRINSIC
low complexity region	70	84	N/A	INTRINSIC
low complexity region	180	192	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153380

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232166

Meta Mutation Damage Score

0.3926

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

100% (77/77)

Allele List at MGI

All alleles(8) : Targeted, other(3) Gene trapped(5)

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,069,540 (GRCm39)	I1285N	probably damaging	Het
Abcc8	G	A	7: 45,756,683 (GRCm39)	R721*	probably null	Het
Alox8	T	C	11: 69,077,394 (GRCm39)	Y423C	probably damaging	Het
Ankle2	T	A	5: 110,399,344 (GRCm39)		probably null	Het
Cdc14a	A	G	3: 116,217,109 (GRCm39)	I9T	probably benign	Het
Ceacam18	T	C	7: 43,291,328 (GRCm39)	C257R	probably damaging	Het
Cilp	T	C	9: 65,186,980 (GRCm39)	V1025A	probably damaging	Het
Clcn7	G	T	17: 25,372,539 (GRCm39)		probably benign	Het
Csnk1d	A	T	11: 120,874,014 (GRCm39)		probably benign	Het
Cyp11b2	A	G	15: 74,724,995 (GRCm39)	S285P	probably benign	Het
Dip2b	T	A	15: 100,093,665 (GRCm39)		probably null	Het
Dmrt1	T	A	19: 25,483,219 (GRCm39)	M1K	probably null	Het
Dnajc14	T	C	10: 128,653,219 (GRCm39)	V684A	probably benign	Het
Dnmt3b	A	G	2: 153,512,284 (GRCm39)	Q335R	probably benign	Het
Exoc3l2	T	A	7: 19,229,117 (GRCm39)	C772S	unknown	Het
F2rl1	A	T	13: 95,650,492 (GRCm39)	F130Y	probably damaging	Het
Galk2	C	G	2: 125,771,557 (GRCm39)	S194*	probably null	Het
Garre1	C	A	7: 33,984,312 (GRCm39)	V104L	possibly damaging	Het
Gpbp1l1	A	G	4: 116,430,714 (GRCm39)	T62A	probably benign	Het
H2-Q10	A	T	17: 35,781,357 (GRCm39)	D53V	probably damaging	Het
H2-T22	T	C	17: 36,349,924 (GRCm39)	K356R	probably benign	Het
Insrr	G	A	3: 87,718,911 (GRCm39)	V956M	probably damaging	Het
Ints7	A	G	1: 191,328,443 (GRCm39)	T239A	probably damaging	Het
Isl1	A	G	13: 116,444,806 (GRCm39)		probably benign	Het
Kcng2	A	G	18: 80,366,083 (GRCm39)	C90R	probably benign	Het
Kif3c	C	T	12: 3,451,735 (GRCm39)	P171S	probably damaging	Het
Knl1	A	G	2: 118,911,994 (GRCm39)	T1704A	probably benign	Het
Lats1	A	G	10: 7,581,549 (GRCm39)	Y778C	probably damaging	Het
Limd2	T	C	11: 106,050,215 (GRCm39)	M1V	probably null	Het
Mcm10	A	T	2: 5,008,970 (GRCm39)	I333N	probably damaging	Het
Mipep	T	A	14: 61,040,329 (GRCm39)	L283*	probably null	Het
Mixl1	A	G	1: 180,522,237 (GRCm39)	S215P	probably benign	Het
Mmp21	A	G	7: 133,280,406 (GRCm39)	L188P	probably damaging	Het
Mob1a	T	C	6: 83,317,221 (GRCm39)	S213P	probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Ndufaf6	T	C	4: 11,060,917 (GRCm39)	T220A	probably benign	Het
Nr4a3	A	T	4: 48,051,651 (GRCm39)	Y135F	possibly damaging	Het
Ntn1	CCTTCTTCT	CCTTCT	11: 68,103,852 (GRCm39)		probably benign	Het
Obscn	A	T	11: 59,027,032 (GRCm39)	L57Q	probably damaging	Het
Or52e19b	T	A	7: 103,032,840 (GRCm39)	D123V	probably damaging	Het
Or5d35	T	C	2: 87,855,804 (GRCm39)	L246P	probably damaging	Het
Pirb	T	A	7: 3,715,661 (GRCm39)	M839L	probably benign	Het
Plcl2	A	G	17: 50,914,254 (GRCm39)	E421G	possibly damaging	Het
Ppp1r12b	T	C	1: 134,876,771 (GRCm39)	N99S	probably benign	Het
Ptpro	A	G	6: 137,354,130 (GRCm39)	K169E	probably damaging	Het
Rita1	T	A	5: 120,749,448 (GRCm39)	K88N	probably damaging	Het
Rptn	A	T	3: 93,303,776 (GRCm39)	K370*	probably null	Het
Simc1	A	G	13: 54,687,576 (GRCm39)	D115G	probably null	Het
Stab1	T	A	14: 30,864,000 (GRCm39)	N136I	probably benign	Het
Syt4	T	A	18: 31,580,409 (GRCm39)		probably benign	Het
Sytl2	A	T	7: 90,038,106 (GRCm39)	N522I	probably damaging	Het
Tax1bp1	A	G	6: 52,706,478 (GRCm39)		probably benign	Het
Tenm2	A	T	11: 35,969,396 (GRCm39)	D847E	probably damaging	Het
Th	G	T	7: 142,447,834 (GRCm39)	D321E	probably benign	Het
Trp53bp1	A	G	2: 121,087,122 (GRCm39)	L178P	probably damaging	Het
Trp63	A	G	16: 25,684,968 (GRCm39)	*285W	probably null	Het
Tsen34	T	C	7: 3,697,380 (GRCm39)		probably benign	Het
Tssk4	C	T	14: 55,889,272 (GRCm39)	T256I	probably benign	Het
Ttc17	A	T	2: 94,196,954 (GRCm39)	N464K	probably damaging	Het
Ttll2	C	T	17: 7,618,998 (GRCm39)	V310I	probably benign	Het
Ubn1	A	G	16: 4,895,177 (GRCm39)	E741G	probably damaging	Het
Urad	T	A	5: 147,252,264 (GRCm39)	I63F	probably damaging	Het
Vcan	T	C	13: 89,852,858 (GRCm39)	T701A	probably benign	Het
Vmn2r58	A	G	7: 41,486,639 (GRCm39)	V752A	possibly damaging	Het
Vmn2r69	C	A	7: 85,060,793 (GRCm39)	V264L	possibly damaging	Het
Zfp292	A	G	4: 34,808,917 (GRCm39)	S1376P	probably damaging	Het
Zfp955a	G	A	17: 33,460,699 (GRCm39)	R478*	probably null	Het
Znfx1	A	C	2: 166,897,189 (GRCm39)	F578L	probably benign	Het

Other mutations in Tmem44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02226:Tmem44	APN	16	30,358,199 (GRCm39)	splice site	probably benign
IGL03308:Tmem44	APN	16	30,362,566 (GRCm39)	missense	probably damaging	0.97
1mM(1):Tmem44	UTSW	16	30,362,315 (GRCm39)	unclassified	probably benign
R0452:Tmem44	UTSW	16	30,336,281 (GRCm39)	splice site	probably benign
R1073:Tmem44	UTSW	16	30,333,651 (GRCm39)	splice site	probably benign
R1962:Tmem44	UTSW	16	30,362,219 (GRCm39)	critical splice donor site	probably null
R2118:Tmem44	UTSW	16	30,366,262 (GRCm39)	nonsense	probably null
R2122:Tmem44	UTSW	16	30,366,262 (GRCm39)	nonsense	probably null
R2124:Tmem44	UTSW	16	30,366,262 (GRCm39)	nonsense	probably null
R5328:Tmem44	UTSW	16	30,359,709 (GRCm39)	missense	possibly damaging	0.83
R6653:Tmem44	UTSW	16	30,356,369 (GRCm39)	missense	probably damaging	0.97
R6818:Tmem44	UTSW	16	30,362,039 (GRCm39)	splice site	probably null
R7058:Tmem44	UTSW	16	30,366,213 (GRCm39)	missense	possibly damaging	0.92
R7738:Tmem44	UTSW	16	30,362,228 (GRCm39)	missense	probably benign	0.27
R9626:Tmem44	UTSW	16	30,366,226 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- GCTTGTCCCAGGCTTTTAATG -3'
(R):5'- CTTTGTAAGTGGCCGCTCATAG -3'

Sequencing Primer
(F):5'- GTCCCAGGCTTTTAATGACTGGAC -3'
(R):5'- TCATAGAGGGCTTGCCCAATG -3'

Posted On

2016-03-17