Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01961:Zc3h11a'

182407

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zc3h11a

Ensembl Gene

ENSMUSG00000116275

Gene Name

zinc finger CCCH type containing 11A

Synonyms

1110003F06Rik, G630041M05Rik, 5730454B08Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01961

Quality Score

Status

Chromosome

Chromosomal Location

133547600-133589137 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 133554805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 392 (R392W)

Ref Sequence

ENSEMBL: ENSMUSP00000141255 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027736] [ENSMUST00000179598] [ENSMUST00000186476] [ENSMUST00000191896]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027736
AA Change: R392W

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000027736
Gene: ENSMUSG00000116275
AA Change: R392W

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 benign
Transcript: ENSMUST00000179598

SMART Domains

Protein: ENSMUSP00000136026
Gene: ENSMUSG00000094410

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 benign
Transcript: ENSMUST00000186476

SMART Domains

Protein: ENSMUSP00000139417
Gene: ENSMUSG00000094410

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: ENSMUST00000191828

Predicted Effect

probably benign
Transcript: ENSMUST00000191896
AA Change: R392W

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000141255
Gene: ENSMUSG00000102976
AA Change: R392W

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 benign
Transcript: ENSMUST00000195669

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Catsperg2	A	G	7: 29,421,097 (GRCm39)		probably benign	Het
Gm9958	C	A	5: 90,515,837 (GRCm39)		probably benign	Het
Kdelr2	T	C	5: 143,406,556 (GRCm39)	V202A	probably benign	Het
Mideas	T	C	12: 84,220,388 (GRCm39)	K189E	probably damaging	Het
Mlh3	T	C	12: 85,313,118 (GRCm39)	R1023G	probably benign	Het
Pcdhb7	A	G	18: 37,475,526 (GRCm39)	K221E	probably damaging	Het
Ptprq	A	G	10: 107,479,515 (GRCm39)	S1171P	probably damaging	Het
Sez6l	G	A	5: 112,619,597 (GRCm39)	T345M	probably damaging	Het
Skint7	T	C	4: 111,834,660 (GRCm39)	Y15H	probably benign	Het
Strip2	T	C	6: 29,928,426 (GRCm39)		probably benign	Het
Syne1	C	A	10: 4,993,723 (GRCm39)	R8339M	possibly damaging	Het
Tmtc3	A	T	10: 100,282,893 (GRCm39)	D887E	probably benign	Het
Ush1g	A	G	11: 115,209,361 (GRCm39)	S278P	probably benign	Het
Wars1	A	T	12: 108,832,096 (GRCm39)	M323K	probably damaging	Het
Zswim8	T	C	14: 20,762,402 (GRCm39)	F305L	possibly damaging	Het

Other mutations in Zc3h11a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Zc3h11a	APN	1	133,553,600 (GRCm39)	missense	probably benign
IGL02005:Zc3h11a	APN	1	133,549,880 (GRCm39)	missense	probably benign
IGL02365:Zc3h11a	APN	1	133,565,151 (GRCm39)	missense	probably benign	0.02
IGL02454:Zc3h11a	APN	1	133,552,254 (GRCm39)	missense	probably benign	0.09
PIT4449001:Zc3h11a	UTSW	1	133,552,349 (GRCm39)	missense	probably benign	0.22
R0180:Zc3h11a	UTSW	1	133,549,349 (GRCm39)	missense	probably benign	0.11
R0965:Zc3h11a	UTSW	1	133,573,541 (GRCm39)	missense	possibly damaging	0.80
R1389:Zc3h11a	UTSW	1	133,561,541 (GRCm39)	missense	probably damaging	0.99
R1607:Zc3h11a	UTSW	1	133,552,425 (GRCm39)	missense	probably benign
R1639:Zc3h11a	UTSW	1	133,552,446 (GRCm39)	missense	probably benign	0.03
R1720:Zc3h11a	UTSW	1	133,549,439 (GRCm39)	missense	probably damaging	0.97
R1728:Zc3h11a	UTSW	1	133,552,359 (GRCm39)	missense	probably benign	0.20
R1728:Zc3h11a	UTSW	1	133,549,892 (GRCm39)	missense	probably benign
R1729:Zc3h11a	UTSW	1	133,549,892 (GRCm39)	missense	probably benign
R1730:Zc3h11a	UTSW	1	133,552,359 (GRCm39)	missense	probably benign	0.20
R1730:Zc3h11a	UTSW	1	133,549,892 (GRCm39)	missense	probably benign
R1739:Zc3h11a	UTSW	1	133,552,359 (GRCm39)	missense	probably benign	0.20
R1739:Zc3h11a	UTSW	1	133,549,892 (GRCm39)	missense	probably benign
R1762:Zc3h11a	UTSW	1	133,552,359 (GRCm39)	missense	probably benign	0.20
R1762:Zc3h11a	UTSW	1	133,549,892 (GRCm39)	missense	probably benign
R1783:Zc3h11a	UTSW	1	133,552,359 (GRCm39)	missense	probably benign	0.20
R1783:Zc3h11a	UTSW	1	133,549,892 (GRCm39)	missense	probably benign
R1784:Zc3h11a	UTSW	1	133,552,359 (GRCm39)	missense	probably benign	0.20
R1784:Zc3h11a	UTSW	1	133,549,892 (GRCm39)	missense	probably benign
R1785:Zc3h11a	UTSW	1	133,549,892 (GRCm39)	missense	probably benign
R1785:Zc3h11a	UTSW	1	133,552,359 (GRCm39)	missense	probably benign	0.20
R2508:Zc3h11a	UTSW	1	133,552,521 (GRCm39)	missense	probably benign	0.01
R4792:Zc3h11a	UTSW	1	133,568,436 (GRCm39)	missense	probably damaging	0.98
R4901:Zc3h11a	UTSW	1	133,552,449 (GRCm39)	missense	probably benign	0.00
R4932:Zc3h11a	UTSW	1	133,552,350 (GRCm39)	missense	probably benign	0.00
R5135:Zc3h11a	UTSW	1	133,561,527 (GRCm39)	missense	probably benign	0.00
R5186:Zc3h11a	UTSW	1	133,549,412 (GRCm39)	missense	probably damaging	0.99
R5357:Zc3h11a	UTSW	1	133,550,780 (GRCm39)	missense	probably damaging	1.00
R5438:Zc3h11a	UTSW	1	133,568,385 (GRCm39)	missense	probably damaging	1.00
R6149:Zc3h11a	UTSW	1	133,566,613 (GRCm39)	nonsense	probably null
R6268:Zc3h11a	UTSW	1	133,552,295 (GRCm39)	missense	probably benign	0.01
R6385:Zc3h11a	UTSW	1	133,565,192 (GRCm39)	missense	possibly damaging	0.82
R6847:Zc3h11a	UTSW	1	133,566,700 (GRCm39)	splice site	probably null
R7107:Zc3h11a	UTSW	1	133,566,655 (GRCm39)	missense	probably damaging	0.96
R7543:Zc3h11a	UTSW	1	133,554,768 (GRCm39)	missense	possibly damaging	0.49
R7693:Zc3h11a	UTSW	1	133,573,475 (GRCm39)	missense	probably damaging	1.00
R7742:Zc3h11a	UTSW	1	133,565,173 (GRCm39)	missense	probably benign	0.01
R8485:Zc3h11a	UTSW	1	133,553,633 (GRCm39)	missense	possibly damaging	0.75
R8911:Zc3h11a	UTSW	1	133,566,339 (GRCm39)	missense	probably damaging	0.99
R9539:Zc3h11a	UTSW	1	133,554,927 (GRCm39)	missense	probably benign	0.06
RF018:Zc3h11a	UTSW	1	133,554,853 (GRCm39)	missense	possibly damaging	0.66
RF020:Zc3h11a	UTSW	1	133,554,735 (GRCm39)	missense	possibly damaging	0.89

Posted On

2014-05-07