Mutagenetix > Incidental Mutations

Incidental Mutation 'R2875:Gm38394'

260496

Institutional Source

Beutler Lab

Gene Symbol

Gm38394

Ensembl Gene

ENSMUSG00000094410

Gene Name

predicted gene, 38394

Synonyms

MMRRC Submission

040463-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.482) question?

Stock #

R2875 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133619940-133661318 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 133656860 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 913 (C913Y)

Ref Sequence

ENSEMBL: ENSMUSP00000140892 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027736] [ENSMUST00000179598] [ENSMUST00000186476] [ENSMUST00000190574] [ENSMUST00000191896] [ENSMUST00000193504] [ENSMUST00000194668] [ENSMUST00000195424] [ENSMUST00000195067]

Predicted Effect

probably benign
Transcript: ENSMUST00000027736

SMART Domains

Protein: ENSMUSP00000027736
Gene: ENSMUSG00000116275

Domain	Start	End	E-Value	Type
ZnF_C3H1	3	28	4.26e-1	SMART
ZnF_C3H1	31	56	7.62e0	SMART
ZnF_C3H1	60	86	6.83e1	SMART
low complexity region	161	176	N/A	INTRINSIC
low complexity region	218	241	N/A	INTRINSIC
low complexity region	367	376	N/A	INTRINSIC
low complexity region	625	647	N/A	INTRINSIC
low complexity region	717	730	N/A	INTRINSIC
low complexity region	770	788	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000179598
AA Change: C913Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136026
Gene: ENSMUSG00000094410
AA Change: C913Y

Domain	Start	End	E-Value	Type
low complexity region	57	84	N/A	INTRINSIC
ZnF_BED	130	183	1.42e-8	SMART
low complexity region	203	215	N/A	INTRINSIC
ZnF_BED	265	318	5.37e-9	SMART
low complexity region	840	862	N/A	INTRINSIC
Pfam:Dimer_Tnp_hAT	869	950	9.3e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000186476
AA Change: C913Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139417
Gene: ENSMUSG00000094410
AA Change: C913Y

Domain	Start	End	E-Value	Type
low complexity region	57	84	N/A	INTRINSIC
ZnF_BED	130	183	1.42e-8	SMART
low complexity region	203	215	N/A	INTRINSIC
ZnF_BED	265	318	5.37e-9	SMART
low complexity region	840	862	N/A	INTRINSIC
Pfam:Dimer_Tnp_hAT	869	950	1.9e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000190574
AA Change: C913Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140892
Gene: ENSMUSG00000102049
AA Change: C913Y

Domain	Start	End	E-Value	Type
low complexity region	57	84	N/A	INTRINSIC
ZnF_BED	130	183	1.42e-8	SMART
low complexity region	203	215	N/A	INTRINSIC
ZnF_BED	265	318	5.37e-9	SMART
low complexity region	840	862	N/A	INTRINSIC
Pfam:Dimer_Tnp_hAT	869	950	1.9e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191705

Predicted Effect

probably benign
Transcript: ENSMUST00000191896

SMART Domains

Protein: ENSMUSP00000141255
Gene: ENSMUSG00000102976

Domain	Start	End	E-Value	Type
ZnF_C3H1	3	28	4.26e-1	SMART
ZnF_C3H1	31	56	7.62e0	SMART
ZnF_C3H1	60	86	6.83e1	SMART
low complexity region	161	176	N/A	INTRINSIC
low complexity region	218	241	N/A	INTRINSIC
low complexity region	367	376	N/A	INTRINSIC
low complexity region	625	647	N/A	INTRINSIC
low complexity region	717	730	N/A	INTRINSIC
low complexity region	770	788	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192107

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192148

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192775

Predicted Effect

probably benign
Transcript: ENSMUST00000193504

SMART Domains

Protein: ENSMUSP00000141895
Gene: ENSMUSG00000102976

Domain	Start	End	E-Value	Type
ZnF_C3H1	3	28	1.8e-3	SMART
ZnF_C3H1	31	56	3.2e-2	SMART
Blast:ZnF_C3H1	60	84	2e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000194668

SMART Domains

Protein: ENSMUSP00000141727
Gene: ENSMUSG00000102976

Domain	Start	End	E-Value	Type
ZnF_C3H1	3	28	1.8e-3	SMART
ZnF_C3H1	31	56	3.2e-2	SMART
ZnF_C3H1	60	86	2.9e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195424

SMART Domains

Protein: ENSMUSP00000142066
Gene: ENSMUSG00000102976

Domain	Start	End	E-Value	Type
ZnF_C3H1	3	28	1.8e-3	SMART
ZnF_C3H1	31	56	3.2e-2	SMART
ZnF_C3H1	60	86	2.9e-1	SMART
low complexity region	161	176	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195067

Meta Mutation Damage Score

0.4267

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (1/1)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	G	10: 10,422,719	T422P	probably damaging	Het
Adrm1	A	G	2: 180,175,618	T293A	probably damaging	Het
Baz1a	A	T	12: 54,923,119	D585E	probably damaging	Het
Ccdc152	T	C	15: 3,298,181	N38S	probably damaging	Het
Cenpf	A	G	1: 189,658,644	M997T	probably benign	Het
Dnah12	A	G	14: 26,693,470	I9V	probably benign	Het
Dnah12	A	G	14: 26,876,950	N995S	probably benign	Het
Dnah9	C	A	11: 66,168,461	G3C	possibly damaging	Het
Dock2	A	G	11: 34,718,885	S243P	probably damaging	Het
Eif2ak3	T	C	6: 70,883,639	S400P	probably damaging	Het
Eno1b	A	G	18: 48,047,784	K343R	possibly damaging	Het
Gm5346	T	A	8: 43,627,140	K16*	probably null	Het
Grk6	A	G	13: 55,452,304	H271R	probably damaging	Het
H2-Ab1	A	C	17: 34,263,312	M1L	probably benign	Het
Irf8	C	A	8: 120,754,463	P262Q	probably damaging	Het
Kcnc3	G	T	7: 44,591,537	G218*	probably null	Het
Krt9	C	A	11: 100,189,205	G454*	probably null	Het
Mgrn1	C	T	16: 4,907,416	T47I	possibly damaging	Het
Ndst1	A	T	18: 60,690,047	F816I	probably damaging	Het
Olfr193	A	T	16: 59,109,802	D269E	probably benign	Het
Olfr742	T	A	14: 50,515,812	W203R	probably benign	Het
Phf12	C	A	11: 78,009,747	T223N	probably damaging	Het
Rad1	T	C	15: 10,490,331	V128A	probably benign	Het
Rad54l	C	T	4: 116,101,853	R382Q	probably benign	Het
Rhbdd1	A	G	1: 82,368,369	D215G	probably benign	Het
Sdc4	T	C	2: 164,431,291	D33G	possibly damaging	Het
Smarca4	A	T	9: 21,642,580	K387N	possibly damaging	Het
St3gal5	A	G	6: 72,147,130	M214V	possibly damaging	Het
Stk25	T	C	1: 93,629,251	D15G	possibly damaging	Het
Timm21	T	C	18: 84,951,092	D69G	probably benign	Het
Ttll4	A	G	1: 74,686,438		probably null	Het
Ttn	T	A	2: 76,759,094	N21272I	probably damaging	Het
Uchl3	A	G	14: 101,668,560	H153R	probably benign	Het
Zcwpw1	T	C	5: 137,810,042	S251P	probably damaging	Het
Zeb1	GGA	GGAAGA	18: 5,772,859		probably benign	Het
Zscan29	T	C	2: 121,164,100	Y468C	probably damaging	Het

Other mutations in Gm38394

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0385:Gm38394	UTSW	1	133656784	missense	probably damaging	0.99
R0417:Gm38394	UTSW	1	133658538	missense	probably benign
R0526:Gm38394	UTSW	1	133658734	missense	probably damaging	0.99
R0576:Gm38394	UTSW	1	133657838	missense	probably benign	0.37
R1164:Gm38394	UTSW	1	133659203	missense	probably damaging	1.00
R1187:Gm38394	UTSW	1	133659203	missense	probably damaging	1.00
R1415:Gm38394	UTSW	1	133657818	missense	possibly damaging	0.80
R1997:Gm38394	UTSW	1	133656713	missense	probably damaging	1.00
R2186:Gm38394	UTSW	1	133658079	missense	probably damaging	1.00
R2876:Gm38394	UTSW	1	133656860	missense	probably damaging	1.00
R2975:Gm38394	UTSW	1	133658237	missense	probably damaging	0.99
R4573:Gm38394	UTSW	1	133659389	missense	probably benign	0.00
R4631:Gm38394	UTSW	1	133658744	missense	probably damaging	1.00
R4671:Gm38394	UTSW	1	133657040	missense	probably benign
R4976:Gm38394	UTSW	1	133658094	missense	probably benign	0.27
R5048:Gm38394	UTSW	1	133658724	missense	probably damaging	0.99
R5318:Gm38394	UTSW	1	133658115	missense	possibly damaging	0.86
R5400:Gm38394	UTSW	1	133658141	missense	probably damaging	1.00
R5427:Gm38394	UTSW	1	133657595	missense	possibly damaging	0.83
R6530:Gm38394	UTSW	1	133659201	missense	probably damaging	1.00
R7511:Gm38394	UTSW	1	133659243	missense	probably benign	0.30
R8215:Gm38394	UTSW	1	133658792	missense	probably damaging	1.00
R8529:Gm38394	UTSW	1	133656968	missense	probably benign	0.00
Z1177:Gm38394	UTSW	1	133659116	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCCCATTTTAAGTAGGACAAG -3'
(R):5'- GCTGTTGGGAGCAAAAGCTC -3'

Sequencing Primer
(F):5'- GCTCTGAACAGCCTTATTTTCAGGG -3'
(R):5'- CTCCTTGCTCCCCGCTG -3'

Posted On

2015-01-23