Mutagenetix > Incidental Mutation

Incidental Mutation 'R8074:Tmem121b'

620407

Institutional Source

Beutler Lab

Gene Symbol

Tmem121b

Ensembl Gene

ENSMUSG00000094626

Gene Name

transmembrane protein 121B

Synonyms

Cecr6

MMRRC Submission

067508-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8074 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120465900-120470768 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120469869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 283 (K283E)

Ref Sequence

ENSEMBL: ENSMUSP00000135924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178687]

AlphaFold

Q99MX7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178687
AA Change: K283E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135924
Gene: ENSMUSG00000094626
AA Change: K283E

Domain	Start	End	E-Value	Type
low complexity region	8	25	N/A	INTRINSIC
low complexity region	33	73	N/A	INTRINSIC
low complexity region	88	193	N/A	INTRINSIC
low complexity region	196	215	N/A	INTRINSIC
transmembrane domain	219	241	N/A	INTRINSIC
low complexity region	253	271	N/A	INTRINSIC
low complexity region	273	305	N/A	INTRINSIC
Pfam:CECR6_TMEM121	308	512	3.6e-61	PFAM
low complexity region	521	550	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,829,320 (GRCm39)	I1380L	probably benign	Het
Adcy3	T	C	12: 4,184,420 (GRCm39)	V32A	probably benign	Het
Ano3	T	A	2: 110,780,577 (GRCm39)		probably benign	Het
Arhgef12	G	A	9: 42,882,399 (GRCm39)	R1482*	probably null	Het
Cd300lg	T	G	11: 101,932,427 (GRCm39)	L4R	probably damaging	Het
Cfap57	T	A	4: 118,426,822 (GRCm39)	K1072M	possibly damaging	Het
Clasp1	G	T	1: 118,390,213 (GRCm39)	M132I	probably benign	Het
Clec18a	T	G	8: 111,798,230 (GRCm39)	D489A	probably damaging	Het
Cngb1	A	G	8: 95,978,801 (GRCm39)	S551P		Het
Efna4	G	A	3: 89,242,633 (GRCm39)	T87M	probably benign	Het
Fam229b	T	C	10: 38,996,255 (GRCm39)	R42G	probably null	Het
Gm17175	C	T	14: 51,809,080 (GRCm39)	M95I	probably damaging	Het
Grk4	A	G	5: 34,833,482 (GRCm39)	E96G	probably benign	Het
Helb	A	C	10: 119,925,321 (GRCm39)	F1019V	probably benign	Het
Hsd17b2	T	C	8: 118,485,440 (GRCm39)	V301A	possibly damaging	Het
Htr1b	A	G	9: 81,513,582 (GRCm39)	F342L	probably benign	Het
Idua	C	A	5: 108,828,441 (GRCm39)	A265E	possibly damaging	Het
Jup	T	G	11: 100,277,113 (GRCm39)	T32P	probably damaging	Het
Kidins220	A	G	12: 25,107,715 (GRCm39)	K1632E	probably benign	Het
Lef1	G	A	3: 130,997,954 (GRCm39)		probably null	Het
Lypla2	A	G	4: 135,697,112 (GRCm39)		probably null	Het
Mall	A	G	2: 127,571,785 (GRCm39)	M1T	probably null	Het
Mettl25	G	T	10: 105,661,941 (GRCm39)	A343E	probably benign	Het
Mpdz	T	C	4: 81,267,324 (GRCm39)	N940S	probably benign	Het
Nsun4	A	T	4: 115,908,631 (GRCm39)	V643D	possibly damaging	Het
Nupr1	A	T	7: 126,224,109 (GRCm39)	F70Y	possibly damaging	Het
Or1e17	T	A	11: 73,831,213 (GRCm39)	V47D	possibly damaging	Het
Or52b4i	A	G	7: 102,191,830 (GRCm39)	H229R	probably benign	Het
Or52e8	A	T	7: 104,624,934 (GRCm39)	I90N	probably damaging	Het
Or5ac20	A	G	16: 59,104,549 (GRCm39)	F104L	probably benign	Het
Or8g32	A	T	9: 39,305,242 (GRCm39)	I49F	probably damaging	Het
Or8k3	C	G	2: 86,058,473 (GRCm39)	V281L	possibly damaging	Het
Pabpc4	A	T	4: 123,180,508 (GRCm39)	M77L	probably benign	Het
Phactr3	A	G	2: 177,944,589 (GRCm39)	E429G	probably damaging	Het
Polr3b	A	G	10: 84,549,523 (GRCm39)	D915G	probably damaging	Het
Pramel14	A	T	4: 143,718,424 (GRCm39)	F340I	probably benign	Het
Prkcg	T	A	7: 3,372,037 (GRCm39)	M501K	probably damaging	Het
Prkch	G	A	12: 73,747,041 (GRCm39)	A307T	possibly damaging	Het
Ptprt	A	G	2: 161,769,581 (GRCm39)	V428A	possibly damaging	Het
Rnf145	C	A	11: 44,448,263 (GRCm39)	D373E	probably damaging	Het
Scfd2	G	T	5: 74,680,257 (GRCm39)	Q299K	probably benign	Het
Septin2	A	G	1: 93,433,283 (GRCm39)	D315G	probably benign	Het
Sf3a1	T	A	11: 4,125,435 (GRCm39)	Y408*	probably null	Het
Siglecf	A	T	7: 43,001,214 (GRCm39)	N61Y	possibly damaging	Het
Sis	A	T	3: 72,824,531 (GRCm39)	I1334K	probably damaging	Het
Slc38a6	A	T	12: 73,391,658 (GRCm39)	T307S	possibly damaging	Het
Spag9	T	A	11: 94,002,877 (GRCm39)	F1129Y	probably damaging	Het
Sra1	G	A	18: 36,808,064 (GRCm39)	A388V	possibly damaging	Het
Srpk1	T	G	17: 28,840,990 (GRCm39)	K12T	probably damaging	Het
Stam2	A	T	2: 52,596,438 (GRCm39)	I333K	probably damaging	Het
Tle1	GAA	GA	4: 72,057,216 (GRCm39)		probably null	Het
Tmem200a	T	C	10: 25,868,850 (GRCm39)	E473G	probably damaging	Het
Tnxb	T	A	17: 34,922,955 (GRCm39)	S2513T	probably benign	Het
Ttc16	A	T	2: 32,664,135 (GRCm39)		probably benign	Het
Ttll8	C	T	15: 88,799,578 (GRCm39)	C621Y	probably damaging	Het
Ubn2	T	A	6: 38,417,475 (GRCm39)	M171K	probably benign	Het
Vmn2r19	T	A	6: 123,312,904 (GRCm39)	V658D	probably damaging	Het
Vmn2r6	A	T	3: 64,455,064 (GRCm39)		probably benign	Het
Vwa3a	A	T	7: 120,398,321 (GRCm39)	I941L	probably benign	Het
Zbtb24	A	G	10: 41,327,228 (GRCm39)	D38G	probably damaging	Het
Zfp628	T	C	7: 4,923,205 (GRCm39)	C476R	probably damaging	Het
Zfp831	A	C	2: 174,486,528 (GRCm39)	N401T	possibly damaging	Het

Other mutations in Tmem121b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01355:Tmem121b	APN	6	120,469,427 (GRCm39)	missense	probably damaging	1.00
IGL02220:Tmem121b	APN	6	120,469,298 (GRCm39)	missense	probably damaging	1.00
R2256:Tmem121b	UTSW	6	120,469,032 (GRCm39)	missense	probably damaging	1.00
R2256:Tmem121b	UTSW	6	120,469,030 (GRCm39)	nonsense	probably null
R2257:Tmem121b	UTSW	6	120,469,032 (GRCm39)	missense	probably damaging	1.00
R2257:Tmem121b	UTSW	6	120,469,030 (GRCm39)	nonsense	probably null
R2999:Tmem121b	UTSW	6	120,469,943 (GRCm39)	missense	possibly damaging	0.53
R3833:Tmem121b	UTSW	6	120,469,841 (GRCm39)	missense	probably damaging	1.00
R4583:Tmem121b	UTSW	6	120,469,055 (GRCm39)	missense	probably damaging	0.99
R4752:Tmem121b	UTSW	6	120,469,995 (GRCm39)	missense	possibly damaging	0.53
R7699:Tmem121b	UTSW	6	120,470,388 (GRCm39)	missense	unknown
R7700:Tmem121b	UTSW	6	120,470,388 (GRCm39)	missense	unknown
R8061:Tmem121b	UTSW	6	120,469,064 (GRCm39)	missense	probably damaging	0.99
R8266:Tmem121b	UTSW	6	120,469,193 (GRCm39)	missense	probably damaging	1.00
R8289:Tmem121b	UTSW	6	120,469,722 (GRCm39)	missense	possibly damaging	0.91
R8527:Tmem121b	UTSW	6	120,469,055 (GRCm39)	missense	probably damaging	0.99
R8907:Tmem121b	UTSW	6	120,469,707 (GRCm39)	missense	probably damaging	0.99
R9180:Tmem121b	UTSW	6	120,469,784 (GRCm39)	missense	probably damaging	0.98
R9329:Tmem121b	UTSW	6	120,469,234 (GRCm39)	missense	probably damaging	0.98
Z1177:Tmem121b	UTSW	6	120,469,622 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TAATGGCACGCACTAGGCTG -3'
(R):5'- TTGCAGTCACTGACCTGTACTG -3'

Sequencing Primer
(F):5'- ACGCACTAGGCTGTAGAGC -3'
(R):5'- ACTGACCTGTACTGGTGCTC -3'

Posted On

2020-01-23