Mutagenetix > Incidental Mutation

Incidental Mutation 'RF035:Polr1has'

604550

Institutional Source

Beutler Lab

Gene Symbol

Polr1has

Ensembl Gene

ENSMUSG00000036214

Gene Name

RNA polymerase I subunit H, antisense

Synonyms

Znrd1as, 1700022C21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

RF035 (G1)

Quality Score

103.467

Status

Not validated

Chromosome

Chromosomal Location

37269484-37276517 bp(+) (GRCm39)

Type of Mutation

small insertion (7 aa in frame mutation)

DNA Base Change (assembly)

CACCAC to CACCACCCCCACCACCACCACAACCAC at 37275958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147556 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040177] [ENSMUST00000173814] [ENSMUST00000209623]

AlphaFold

Q8R0E5

Predicted Effect

probably benign
Transcript: ENSMUST00000040177

SMART Domains

Protein: ENSMUSP00000048695
Gene: ENSMUSG00000036214

Domain	Start	End	E-Value	Type
low complexity region	98	115	N/A	INTRINSIC
coiled coil region	163	195	N/A	INTRINSIC
low complexity region	224	236	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173814

SMART Domains

Protein: ENSMUSP00000134016
Gene: ENSMUSG00000036214

Domain	Start	End	E-Value	Type
low complexity region	19	36	N/A	INTRINSIC
coiled coil region	84	116	N/A	INTRINSIC
low complexity region	145	157	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000209623

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	T	TTTGGCTGCC	1: 82,891,310 (GRCm39)		probably benign	Het
Acap3	TGCATCCTGGGCTGC	TGCATCCTGGGCTGCCGCATCCTGGGCTGC	4: 155,989,548 (GRCm39)		probably benign	Het
AI837181	G	GGCT	19: 5,475,266 (GRCm39)		probably benign	Het
Amfr	GCC	GCCGGCGCGAGCTCC	8: 94,738,920 (GRCm39)		probably benign	Het
Amot	GGAGCAGCAA	G	X: 144,233,984 (GRCm39)		probably benign	Het
Bltp1	TAT	TATTATTATTATTATGAT	3: 37,104,907 (GRCm39)		probably benign	Het
Cacna1f	GAG	GAGTAG	X: 7,486,293 (GRCm39)		probably null	Het
Calhm1	CTGTGGCTGTGGCTGTGGCTGTGG	CTGTGGCTGTGGTTGTGGCTGTGGCTGTGGCTGTGG	19: 47,129,692 (GRCm39)		probably benign	Het
Chga	G	GCAT	12: 102,527,686 (GRCm39)		probably benign	Het
E4f1	CGC	CGCTGC	17: 24,674,164 (GRCm39)		probably benign	Het
E4f1	CCG	CCGGCG	17: 24,674,169 (GRCm39)		probably benign	Het
Eps8	C	CTCAG	6: 137,494,068 (GRCm39)		probably null	Het
Exd2	GCAGCCACAGCAGCCGCAGCAGCCGCAGCCACAGCCACAGCCACAGCCACAGCCACAGC	GCAGCCACAGC	12: 80,522,674 (GRCm39)		probably benign	Het
Exd2	CAGCCAGAGC	CAGC	12: 80,522,729 (GRCm39)		probably benign	Het
Gm10447	AAAAAAAAAGAAAAA	AAAAAA	11: 53,347,165 (GRCm39)		probably benign	Het
Gm10521	CTCTCTCTCT	CTCTCTCTCTCTCT	1: 171,723,860 (GRCm39)		probably null	Het
Gm8369	TGTG	TGTGCGAGTG	19: 11,489,137 (GRCm39)		probably benign	Het
Gucy1b2	CACACACACACACACACTTAC	CAC	14: 62,646,090 (GRCm39)		probably benign	Het
Ier5l	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTG	2: 30,363,832 (GRCm39)		probably benign	Het
Kmt2b	TTCTCCT	TTCTCCTTCTCCT	7: 30,285,782 (GRCm39)		probably benign	Het
Krtap28-10	CAG	CAGCCAAAG	1: 83,019,867 (GRCm39)		probably benign	Het
Krtap28-10	CCACCACAGC	CCACCACAGCCACAGTCACCACAGC	1: 83,020,002 (GRCm39)		probably benign	Het
Lmx1b	TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA	TACATCTTGATGCCGTCCA	2: 33,530,501 (GRCm39)		probably null	Het
Mamld1	GCAACA	GCAACAACA	X: 70,162,418 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCGGC	X: 70,162,456 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,444 (GRCm39)		probably benign	Het
Manbal	CGATAGAAT	C	2: 157,237,932 (GRCm39)		probably null	Het
Map1a	GCTCCAGCTCCAGCTCCA	GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCAGCTCCA	2: 121,136,782 (GRCm39)		probably benign	Het
Mcph1	CTCT	CTCTTCT	8: 18,702,541 (GRCm39)		probably benign	Het
Nefh	CCTCACCTGGGGACTTGG	CCTCACCTGGGGACTTGGGCTCACCTGGGGACTTGG	11: 4,891,039 (GRCm39)		probably benign	Het
Nusap1	GATACACGTTAGCAGTGAGGAGCAAGCTGA	GATACACGTTAGCAGTGAGGAGCAAGCTGATATACACGTTAGCAGTGAGGAGCAAGCTGA	2: 119,458,060 (GRCm39)		probably benign	Het
Or2t49	TGGAGGTGGATTGG	TG	11: 58,393,208 (GRCm39)		probably benign	Het
P4ha2	CCAGGTG	C	11: 54,001,061 (GRCm39)		probably benign	Het
Pdik1l	CCACCA	CCACCAACACCA	4: 134,006,821 (GRCm39)		probably benign	Het
Rassf6	GCCTCACTCATGGTCCTGTAGAGCAATGGGGATTC	GCCTCACTCATGGTCCTGTAGAGCAATGGGGATTCTTCCTCACTCATGGTCCTGTAGAGCAATGGGGATTC	5: 90,756,767 (GRCm39)		probably benign	Het
Rfx4	TCTCTCTCTCTCTCT	TCTCTCTCTCTCTCTCGCTCTCTCTCTCTCT	10: 84,694,344 (GRCm39)		probably benign	Het
Rgs22	GCTAAAAAAAAAAAAAAAAA	G	15: 36,010,981 (GRCm39)		probably benign	Het
Rpgrip1	AGG	AGGGGG	14: 52,386,850 (GRCm39)		probably benign	Het
Slc39a4	TGTGGTC	TGTGGTCATCATGATCACCATGGTCACCATGAGCACGGTGGTC	15: 76,499,066 (GRCm39)		probably benign	Het
Srpk2	ATCCT	AT	5: 23,730,573 (GRCm39)		probably benign	Het
Strn	AGTC	AGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCTGTC	17: 78,984,714 (GRCm39)		probably null	Het
Tcof1	AAGAT	AAGATTGGCCCTTTCCCAGAGATGCCCTTGGCTGCTGAGAT	18: 60,966,625 (GRCm39)		probably benign	Het
Tfeb	AGC	AGCCGC	17: 48,097,036 (GRCm39)		probably benign	Het
Tmem59	T	TGTTTGTTG	4: 107,047,729 (GRCm39)		probably benign	Het
Trav6d-5	ATTTTT	ATTTTTTTTTT	14: 53,032,791 (GRCm39)		probably benign	Het
Triobp	CAGGACTCCCTGTGCCCAACGG	CAGGACTCCCTGTGCCCAACGGAACAACCCAAGGACTCCCTGTGCCCAACGG	15: 78,851,239 (GRCm39)		probably benign	Het
Tsen2	GGA	GGATGA	6: 115,537,028 (GRCm39)		probably benign	Het
Ttf2	TTCT	TTCTTCT	3: 100,870,473 (GRCm39)		probably benign	Het
Vat1l	C	T	8: 115,016,069 (GRCm39)	L320F	probably damaging	Het
Xirp2	TT	TTTAT	2: 67,355,888 (GRCm39)		probably benign	Het
Yipf3	AGAGGA	AGA	17: 46,559,898 (GRCm39)		probably benign	Het
Zfp933	TT	TTTGCGT	4: 147,910,188 (GRCm39)		probably null	Het

Other mutations in Polr1has

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00807:Polr1has	APN	17	37,275,813 (GRCm39)	missense	probably damaging	0.99
R0347:Polr1has	UTSW	17	37,276,207 (GRCm39)	missense	probably damaging	1.00
R0789:Polr1has	UTSW	17	37,275,852 (GRCm39)	missense	probably damaging	1.00
R0993:Polr1has	UTSW	17	37,275,939 (GRCm39)	small deletion	probably benign
R2110:Polr1has	UTSW	17	37,276,336 (GRCm39)	missense	possibly damaging	0.47
R2866:Polr1has	UTSW	17	37,276,052 (GRCm39)	missense	possibly damaging	0.91
R4224:Polr1has	UTSW	17	37,269,617 (GRCm39)	utr 5 prime	probably benign
R4746:Polr1has	UTSW	17	37,275,765 (GRCm39)	missense	probably benign	0.00
R7449:Polr1has	UTSW	17	37,275,275 (GRCm39)	missense	probably damaging	1.00
R9453:Polr1has	UTSW	17	37,275,939 (GRCm39)	small deletion	probably benign
R9651:Polr1has	UTSW	17	37,276,353 (GRCm39)	nonsense	probably null
R9709:Polr1has	UTSW	17	37,275,249 (GRCm39)	missense	probably benign	0.23
RF005:Polr1has	UTSW	17	37,275,940 (GRCm39)	small insertion	probably benign
RF008:Polr1has	UTSW	17	37,275,946 (GRCm39)	small insertion	probably benign
RF010:Polr1has	UTSW	17	37,275,955 (GRCm39)	small insertion	probably benign
RF014:Polr1has	UTSW	17	37,275,952 (GRCm39)	small insertion	probably benign
RF024:Polr1has	UTSW	17	37,275,949 (GRCm39)	small insertion	probably benign
RF025:Polr1has	UTSW	17	37,275,940 (GRCm39)	small insertion	probably benign
RF029:Polr1has	UTSW	17	37,275,963 (GRCm39)	small insertion	probably benign
RF046:Polr1has	UTSW	17	37,275,949 (GRCm39)	small insertion	probably benign
RF048:Polr1has	UTSW	17	37,275,951 (GRCm39)	small insertion	probably benign
RF053:Polr1has	UTSW	17	37,275,958 (GRCm39)	small insertion	probably benign
RF064:Polr1has	UTSW	17	37,275,942 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTGCATACAACAGCAGCAAG -3'
(R):5'- GTGGGATGCTTTCCTCCTCTAG -3'

Sequencing Primer
(F):5'- CTTGATAACTCAGAAATGCCATGAGG -3'
(R):5'- TCCTCTAGCACAATTTTGGGTAG -3'

Posted On

2019-12-04