Mutagenetix > Incidental Mutation

Incidental Mutation 'R8389:Tmem74'

647296

Institutional Source

Beutler Lab

Gene Symbol

Tmem74

Ensembl Gene

ENSMUSG00000054409

Gene Name

transmembrane protein 74

Synonyms

B230382K22Rik

MMRRC Submission

067754-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8389 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43728042-43733432 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43730315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 243 (G243R)

Ref Sequence

ENSEMBL: ENSMUSP00000070748 (fasta)

Gene Model

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

AlphaFold

Q8BQU7

Predicted Effect

probably damaging
Transcript: ENSMUST00000067469
AA Change: G243R

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

SMART Domains

Protein: ENSMUSP00000070748
Gene: ENSMUSG00000054409
AA Change: G243R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	C	T	1: 66,893,906 (GRCm39)	G83E	probably damaging	Het
Adamtsl2	A	G	2: 26,993,136 (GRCm39)	D722G	possibly damaging	Het
Akap11	A	T	14: 78,756,322 (GRCm39)	D25E		Het
Akr1c21	C	T	13: 4,626,278 (GRCm39)	R101W	probably damaging	Het
Ano2	T	C	6: 125,957,132 (GRCm39)	Y634H	probably damaging	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Cfap221	T	C	1: 119,851,301 (GRCm39)	E820G	probably damaging	Het
Chad	A	G	11: 94,458,718 (GRCm39)	D289G	probably benign	Het
Col4a2	C	A	8: 11,498,132 (GRCm39)	A1647E	probably damaging	Het
Dhx32	G	T	7: 133,326,935 (GRCm39)	T522K	possibly damaging	Het
Eloa	A	G	4: 135,733,622 (GRCm39)	V707A	probably benign	Het
Fam219a	A	G	4: 41,520,935 (GRCm39)	S109P	probably damaging	Het
Ftl1	A	T	7: 45,108,651 (GRCm39)	F36I	probably benign	Het
Furin	C	T	7: 80,040,627 (GRCm39)	R737Q	probably benign	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gpt	C	T	15: 76,583,242 (GRCm39)	T393M	probably damaging	Het
Greb1l	A	T	18: 10,529,613 (GRCm39)	D865V	probably benign	Het
Ifi207	GTT	GT	1: 173,557,016 (GRCm39)		probably null	Het
Klk1b11	G	A	7: 43,649,120 (GRCm39)	C219Y	probably damaging	Het
Lcn11	A	T	2: 25,669,043 (GRCm39)	D117V	probably damaging	Het
Lrpprc	A	T	17: 85,080,742 (GRCm39)	V161D	possibly damaging	Het
Lrrk2	T	C	15: 91,584,194 (GRCm39)	L318S	probably damaging	Het
Muc5b	A	G	7: 141,415,516 (GRCm39)	T2821A	possibly damaging	Het
Mysm1	A	G	4: 94,853,849 (GRCm39)	M250T	probably benign	Het
Nol12	A	G	15: 78,819,268 (GRCm39)	K27E	probably damaging	Het
Omg	T	A	11: 79,393,001 (GRCm39)	M286L	probably benign	Het
Or4c100	G	A	2: 88,355,931 (GRCm39)	M1I	probably null	Het
Or8g32	A	G	9: 39,305,912 (GRCm39)	K272R	probably damaging	Het
Pdyn	A	G	2: 129,530,357 (GRCm39)	L104P	probably benign	Het
Pira2	A	C	7: 3,846,888 (GRCm39)	L218R	probably damaging	Het
Pnpt1	A	T	11: 29,080,758 (GRCm39)	M1L	unknown	Het
Pofut2	C	T	10: 77,101,785 (GRCm39)	T274M	probably benign	Het
Pramel34	A	T	5: 93,785,587 (GRCm39)	F231Y	probably benign	Het
Rbm12b1	C	A	4: 12,146,363 (GRCm39)	D778E	probably damaging	Het
Srsf12	C	G	4: 33,226,070 (GRCm39)	P111R	probably damaging	Het
Tbc1d14	G	A	5: 36,687,792 (GRCm39)		probably benign	Het
Tcf23	A	G	5: 31,127,464 (GRCm39)	K89E	probably benign	Het
Ufd1	T	C	16: 18,639,853 (GRCm39)	V119A	possibly damaging	Het
Vmn2r72	A	T	7: 85,401,168 (GRCm39)	Y84N	probably damaging	Het
Zfp120	A	T	2: 149,959,327 (GRCm39)	C354S	probably damaging	Het
Zfp69	G	A	4: 120,806,549 (GRCm39)	T28I	possibly damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zfp959	T	C	17: 56,204,299 (GRCm39)	V112A	probably benign	Het
Zfr2	T	A	10: 81,081,323 (GRCm39)	W458R	probably benign	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
R5218:Tmem74	UTSW	15	43,730,640 (GRCm39)	missense	possibly damaging	0.52
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
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'- GCATCTTCCTCTACCAAGGAC -3'
(R):5'- AGCCACATCTTCAGGGAAGTC -3'

Sequencing Primer
(F):5'- TCTACCAAGGACAGTTCCAGAGTG -3'
(R):5'- CCACATCTTCAGGGAAGTCTGTAG -3'

Posted On

2020-09-02