Mutagenetix > Incidental Mutation

Incidental Mutation 'R5218:Tmem74'

403619

Institutional Source

Beutler Lab

Gene Symbol

Tmem74

Ensembl Gene

ENSMUSG00000054409

Gene Name

transmembrane protein 74

Synonyms

B230382K22Rik

MMRRC Submission

042791-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5218 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43728042-43733432 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43730640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 134 (N134K)

Ref Sequence

ENSEMBL: ENSMUSP00000070748 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067469]

AlphaFold

Q8BQU7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067469
AA Change: N134K

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000070748
Gene: ENSMUSG00000054409
AA Change: N134K

Domain	Start	End	E-Value	Type
low complexity region	60	71	N/A	INTRINSIC
Pfam:Neurensin	147	269	1.1e-12	PFAM

Meta Mutation Damage Score

0.0663

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,629,628 (GRCm39)	N230K	possibly damaging	Het
4933428M09Rik	G	T	X: 138,080,282 (GRCm39)	G16*	probably null	Het
Albfm1	A	G	5: 90,729,777 (GRCm39)	K400R	probably benign	Het
Amigo1	A	G	3: 108,095,086 (GRCm39)		probably null	Het
Arhgap30	A	T	1: 171,236,328 (GRCm39)	T901S	probably benign	Het
Arpp21	T	C	9: 111,972,499 (GRCm39)	D264G	probably damaging	Het
Ccbe1	C	T	18: 66,216,229 (GRCm39)	G165S	probably damaging	Het
Celsr1	T	C	15: 85,816,585 (GRCm39)	D1786G	probably damaging	Het
Cntn1	T	C	15: 92,237,430 (GRCm39)	L1008P	unknown	Het
Dclk2	T	A	3: 86,712,985 (GRCm39)	D489V	probably damaging	Het
Dip2b	T	A	15: 100,052,177 (GRCm39)	D259E	probably benign	Het
Disp3	T	C	4: 148,327,333 (GRCm39)	S1184G	possibly damaging	Het
Dync1li2	C	T	8: 105,169,179 (GRCm39)	W36*	probably null	Het
Ece2	A	T	16: 20,437,290 (GRCm39)	M211L	probably benign	Het
Edn3	C	T	2: 174,603,345 (GRCm39)	A31V	probably benign	Het
Enpp2	T	C	15: 54,750,982 (GRCm39)	Q266R	possibly damaging	Het
Fabp1	C	A	6: 71,176,944 (GRCm39)	Q12K	probably damaging	Het
Flt1	G	A	5: 147,618,738 (GRCm39)	T199M	probably damaging	Het
Galns	T	A	8: 123,325,328 (GRCm39)	I275F	probably damaging	Het
Gapvd1	T	C	2: 34,618,488 (GRCm39)	D295G	probably benign	Het
Gatb	A	G	3: 85,511,751 (GRCm39)	I169V	probably benign	Het
Gpd1	T	A	15: 99,618,011 (GRCm39)	I109N	probably damaging	Het
Gps2	T	C	11: 69,807,121 (GRCm39)		probably null	Het
Hsd17b12	T	C	2: 93,913,608 (GRCm39)	N99D	probably benign	Het
Itga3	A	T	11: 94,953,574 (GRCm39)	V256E	probably benign	Het
Kcnma1	T	A	14: 23,513,253 (GRCm39)	Y527F	probably damaging	Het
Lamc1	C	A	1: 153,103,442 (GRCm39)	V1375L	probably damaging	Het
Lrp1	C	A	10: 127,384,488 (GRCm39)	E3580D	probably damaging	Het
Ltbp4	AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC	AATTCAGGCCTAGGCTGGGATTCAGGC	7: 27,026,736 (GRCm39)		probably benign	Het
Medag	A	T	5: 149,345,719 (GRCm39)		probably benign	Het
Ncdn	C	A	4: 126,644,603 (GRCm39)	R73L	probably benign	Het
Nr4a1	T	C	15: 101,170,034 (GRCm39)	V339A	probably benign	Het
Ocln	G	T	13: 100,642,822 (GRCm39)	P420Q	probably damaging	Het
Or5ac24	A	T	16: 59,165,270 (GRCm39)	S265T	probably benign	Het
Pank4	C	T	4: 155,064,185 (GRCm39)	T681I	probably benign	Het
Pcdhb6	T	A	18: 37,467,388 (GRCm39)	V103E	possibly damaging	Het
Pcsk6	T	C	7: 65,675,036 (GRCm39)	F469S	probably benign	Het
Phrf1	A	G	7: 140,841,214 (GRCm39)	N1353S	possibly damaging	Het
Pou6f2	A	G	13: 18,326,586 (GRCm39)	I72T	probably damaging	Het
Ppig	T	C	2: 69,563,127 (GRCm39)		probably benign	Het
Ptprh	T	C	7: 4,600,919 (GRCm39)	S153G	probably benign	Het
Rab11b	T	C	17: 33,967,924 (GRCm39)	N91S	probably benign	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Slc2a9	A	G	5: 38,610,524 (GRCm39)	S92P	probably damaging	Het
Slit3	G	A	11: 35,575,002 (GRCm39)		probably null	Het
Sox5	T	C	6: 143,906,616 (GRCm39)	I280V	possibly damaging	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Tdrd9	C	T	12: 112,029,909 (GRCm39)		probably benign	Het
Tmem273	T	A	14: 32,538,793 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Txnl1	T	G	18: 63,812,538 (GRCm39)	K85N	probably benign	Het
Vmn2r77	T	A	7: 86,451,341 (GRCm39)	M409K	probably damaging	Het
Wipf1	T	C	2: 73,274,812 (GRCm39)	D53G	probably damaging	Het
Wnt10a	G	A	1: 74,832,754 (GRCm39)	V116I	probably benign	Het
Xpot	T	A	10: 121,455,043 (GRCm39)	D33V	probably damaging	Het
Znrf3	C	T	11: 5,231,519 (GRCm39)	V665M	possibly damaging	Het

Other mutations in Tmem74

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01873:Tmem74	APN	15	43,730,782 (GRCm39)	missense	probably benign	0.05
IGL01985:Tmem74	APN	15	43,730,476 (GRCm39)	missense	probably damaging	1.00
R1102:Tmem74	UTSW	15	43,730,186 (GRCm39)	missense	probably benign	0.00
R1782:Tmem74	UTSW	15	43,730,348 (GRCm39)	missense	probably damaging	1.00
R1851:Tmem74	UTSW	15	43,730,559 (GRCm39)	missense	probably benign	0.29
R1852:Tmem74	UTSW	15	43,730,559 (GRCm39)	missense	probably benign	0.29
R2352:Tmem74	UTSW	15	43,730,506 (GRCm39)	missense	probably damaging	1.00
R3401:Tmem74	UTSW	15	43,730,417 (GRCm39)	missense	probably damaging	1.00
R3402:Tmem74	UTSW	15	43,730,417 (GRCm39)	missense	probably damaging	1.00
R3403:Tmem74	UTSW	15	43,730,417 (GRCm39)	missense	probably damaging	1.00
R4095:Tmem74	UTSW	15	43,730,678 (GRCm39)	nonsense	probably null
R4607:Tmem74	UTSW	15	43,730,554 (GRCm39)	missense	probably damaging	0.98
R4608:Tmem74	UTSW	15	43,730,554 (GRCm39)	missense	probably damaging	0.98
R5304:Tmem74	UTSW	15	43,730,217 (GRCm39)	nonsense	probably null
R5375:Tmem74	UTSW	15	43,730,564 (GRCm39)	missense	possibly damaging	0.77
R6074:Tmem74	UTSW	15	43,730,134 (GRCm39)	missense	possibly damaging	0.77
R7264:Tmem74	UTSW	15	43,730,864 (GRCm39)	missense	probably benign	0.00
R7485:Tmem74	UTSW	15	43,730,761 (GRCm39)	missense	probably benign	0.01
R7909:Tmem74	UTSW	15	43,730,795 (GRCm39)	missense	probably benign	0.12
R8366:Tmem74	UTSW	15	43,730,315 (GRCm39)	missense	probably damaging	1.00
R8389:Tmem74	UTSW	15	43,730,315 (GRCm39)	missense	probably damaging	1.00
R8732:Tmem74	UTSW	15	43,731,456 (GRCm39)	splice site	probably benign
R8855:Tmem74	UTSW	15	43,730,231 (GRCm39)	missense	probably damaging	1.00
R8866:Tmem74	UTSW	15	43,730,231 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCACTGTATTGGGATCCAC -3'
(R):5'- AAACAAGCTTCTCCCTATCTGG -3'

Sequencing Primer
(F):5'- ACTGTATTGGGATCCACTGTCAC -3'
(R):5'- ATCTGGACCTCCTGACTCAG -3'

Posted On

2016-07-22