Mutagenetix > Incidental Mutation

Incidental Mutation 'R9488:Hnrnpll'

716778

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpll

Ensembl Gene

ENSMUSG00000024095

Gene Name

heterogeneous nuclear ribonucleoprotein L-like

Synonyms

Hnrpll, 2510028H02Rik, 2810036L13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R9488 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80336916-80369697 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80369385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 13 (T13A)

Ref Sequence

ENSEMBL: ENSMUSP00000139372 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061331] [ENSMUST00000184297] [ENSMUST00000184635]

AlphaFold

Q921F4

Predicted Effect

unknown
Transcript: ENSMUST00000061331
AA Change: T13A

SMART Domains

Protein: ENSMUSP00000058308
Gene: ENSMUSG00000024095
AA Change: T13A

Domain	Start	End	E-Value	Type
low complexity region	52	104	N/A	INTRINSIC
RRM	126	195	2.99e-4	SMART
RRM	216	289	1.26e-2	SMART
low complexity region	314	325	N/A	INTRINSIC
RRM	385	454	1.36e-7	SMART
Blast:RRM_2	504	582	3e-32	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000184297
AA Change: T13A

SMART Domains

Protein: ENSMUSP00000139075
Gene: ENSMUSG00000024095
AA Change: T13A

Domain	Start	End	E-Value	Type
low complexity region	52	104	N/A	INTRINSIC
RRM	126	195	2.99e-4	SMART
RRM	216	289	1.26e-2	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000184635
AA Change: T13A

SMART Domains

Protein: ENSMUSP00000139372
Gene: ENSMUSG00000024095
AA Change: T13A

Domain	Start	End	E-Value	Type
low complexity region	52	104	N/A	INTRINSIC
RRM	126	195	2.99e-4	SMART
RRM	216	289	1.26e-2	SMART
low complexity region	314	325	N/A	INTRINSIC
RRM	385	454	1.36e-7	SMART
Blast:RRM_2	504	582	3e-32	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HNRNPLL is a master regulator of activation-induced alternative splicing in T cells. In particular, it alters splicing of CD45 (PTPRC; MIM 151460), a tyrosine phosphatase essential for T-cell development and activation (Oberdoerffer et al., 2008 [PubMed 18669861]).[supplied by OMIM, Aug 2008]
PHENOTYPE: Mice homozygous for a point mutation in a RNA recognition motif of the gene product have defects in the generation of alternative transcripts normally found in memory T cells. Total CD4⁺ T cell counts are lower, with a reduction of naï¿½ve CD44^lo T cells occurring as mice age. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Gene trapped(5) Chemically induced(1)

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,643,212 (GRCm39)	I294L	probably benign	Het
Ankrd35	A	T	3: 96,589,343 (GRCm39)	K187N	probably damaging	Het
Arhgap40	C	T	2: 158,391,571 (GRCm39)	T631M	possibly damaging	Het
Arpin	T	C	7: 79,584,979 (GRCm39)	Y5C	probably damaging	Het
B020011L13Rik	A	G	1: 117,728,724 (GRCm39)	Y77C		Het
Cdk17	A	G	10: 93,044,066 (GRCm39)	K2E	probably damaging	Het
Cdk18	A	G	1: 132,049,260 (GRCm39)	F86L	probably benign	Het
Cfap418	A	G	4: 10,893,271 (GRCm39)	D130G	probably damaging	Het
Clca4a	T	C	3: 144,659,532 (GRCm39)	T775A	probably damaging	Het
Clvs2	T	A	10: 33,389,301 (GRCm39)	D313V	possibly damaging	Het
Col6a5	T	C	9: 105,741,788 (GRCm39)	Y2377C	probably damaging	Het
Drd2	T	C	9: 49,311,094 (GRCm39)	V115A	probably damaging	Het
Dsp	A	G	13: 38,377,218 (GRCm39)	R1668G	probably benign	Het
Eif2d	T	A	1: 131,082,962 (GRCm39)	V102E	probably damaging	Het
Fmo4	A	G	1: 162,631,337 (GRCm39)	V210A	probably damaging	Het
Galntl5	A	G	5: 25,415,437 (GRCm39)	R323G	probably damaging	Het
Git2	T	C	5: 114,904,533 (GRCm39)	T129A	probably benign	Het
Gm572	A	G	4: 148,752,913 (GRCm39)	H264R	possibly damaging	Het
Ighv7-4	T	C	12: 114,186,619 (GRCm39)	Y51C	probably damaging	Het
Irag2	G	A	6: 145,113,753 (GRCm39)	R307Q	probably damaging	Het
Jam2	A	G	16: 84,619,676 (GRCm39)	D289G	probably damaging	Het
Krt27	A	G	11: 99,239,535 (GRCm39)		probably null	Het
Lama5	T	C	2: 179,823,234 (GRCm39)	N2704S	possibly damaging	Het
Lhx8	A	T	3: 154,033,764 (GRCm39)	S70T	possibly damaging	Het
Lmo7	C	A	14: 102,122,783 (GRCm39)	T324N	possibly damaging	Het
Man2a1	A	G	17: 65,040,734 (GRCm39)	T907A	possibly damaging	Het
Map3k4	C	T	17: 12,489,860 (GRCm39)	A524T	probably damaging	Het
Mga	C	T	2: 119,795,304 (GRCm39)	A2996V	possibly damaging	Het
Mybpc1	A	T	10: 88,379,624 (GRCm39)	M625K	possibly damaging	Het
Ncald	T	A	15: 37,372,369 (GRCm39)	N159Y	probably damaging	Het
Nfasc	T	C	1: 132,527,866 (GRCm39)	T832A	possibly damaging	Het
P2rx5	T	A	11: 73,056,427 (GRCm39)	I117N		Het
Pcdhb3	C	A	18: 37,435,416 (GRCm39)	R461S	possibly damaging	Het
Polr1b	T	C	2: 128,967,417 (GRCm39)	S937P	probably damaging	Het
Prep	C	A	10: 44,996,807 (GRCm39)	Q362K		Het
Prg4	T	C	1: 150,327,024 (GRCm39)	M342V	probably benign	Het
Prr14	A	T	7: 127,073,687 (GRCm39)	T184S	possibly damaging	Het
Prss58	A	G	6: 40,874,382 (GRCm39)	I98T	probably benign	Het
Pum3	T	C	19: 27,394,188 (GRCm39)	T361A	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,129 (GRCm39)		probably benign	Het
Sema4c	A	G	1: 36,591,067 (GRCm39)	V424A	probably benign	Het
Sema6a	A	T	18: 47,437,216 (GRCm39)	I58N	probably damaging	Het
Slc13a3	T	A	2: 165,250,851 (GRCm39)	Y506F	probably damaging	Het
Slc15a2	A	G	16: 36,579,651 (GRCm39)	V365A	probably benign	Het
Slc39a5	G	A	10: 128,233,628 (GRCm39)	L290F	probably damaging	Het
Spata31f1a	A	G	4: 42,850,560 (GRCm39)	V532A	probably benign	Het
Taf6l	T	C	19: 8,759,436 (GRCm39)	T161A	probably benign	Het
Tbl2	T	A	5: 135,187,471 (GRCm39)	C243S	probably benign	Het
Tet2	A	T	3: 133,193,103 (GRCm39)	S444T	probably benign	Het
Thoc1	C	T	18: 9,992,168 (GRCm39)	L499F	probably damaging	Het
Tnc	A	G	4: 63,913,942 (GRCm39)	V1290A	probably damaging	Het
Tnpo1	T	C	13: 98,990,003 (GRCm39)	D716G	probably damaging	Het
Tpp2	A	T	1: 44,041,272 (GRCm39)	K1236N	probably benign	Het
Tshr	T	C	12: 91,504,589 (GRCm39)	V509A	probably damaging	Het
U2surp	T	C	9: 95,356,535 (GRCm39)	T775A		Het
Ubap2l	T	C	3: 89,928,656 (GRCm39)	T486A	probably benign	Het
Usp28	C	A	9: 48,935,288 (GRCm39)	P457T	probably damaging	Het
Usp44	A	G	10: 93,682,851 (GRCm39)	I387V	possibly damaging	Het
Vmn1r225	A	G	17: 20,722,793 (GRCm39)	D78G	probably damaging	Het
Vps13b	T	C	15: 35,447,880 (GRCm39)	M537T	possibly damaging	Het
Wdr6	G	A	9: 108,453,182 (GRCm39)	R234C	probably damaging	Het
Zfp1005	G	A	2: 150,110,477 (GRCm39)	G389D	unknown	Het
Zfp949	C	A	9: 88,452,182 (GRCm39)	T584N	probably benign	Het

Other mutations in Hnrnpll

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
thunder	APN	17	80,361,000 (GRCm39)	missense	probably damaging	1.00
IGL01989:Hnrnpll	APN	17	80,346,169 (GRCm39)	missense	probably benign	0.15
IGL02093:Hnrnpll	APN	17	80,351,933 (GRCm39)	missense	probably benign	0.00
IGL02141:Hnrnpll	APN	17	80,358,142 (GRCm39)	missense	probably benign	0.02
IGL02749:Hnrnpll	APN	17	80,369,420 (GRCm39)	start codon destroyed	probably null
IGL03213:Hnrnpll	APN	17	80,341,527 (GRCm39)	missense	probably damaging	1.00
Grell	UTSW	17	80,341,534 (GRCm39)	missense	probably damaging	1.00
Lindsley	UTSW	17	80,357,276 (GRCm39)	missense	probably damaging	1.00
R0477:Hnrnpll	UTSW	17	80,369,261 (GRCm39)	missense	unknown
R1599:Hnrnpll	UTSW	17	80,361,054 (GRCm39)	missense	unknown
R1700:Hnrnpll	UTSW	17	80,341,534 (GRCm39)	missense	probably benign	0.18
R1838:Hnrnpll	UTSW	17	80,346,052 (GRCm39)	missense	probably damaging	1.00
R1907:Hnrnpll	UTSW	17	80,342,758 (GRCm39)	critical splice donor site	probably null
R1978:Hnrnpll	UTSW	17	80,351,947 (GRCm39)	missense	probably benign	0.01
R2079:Hnrnpll	UTSW	17	80,342,806 (GRCm39)	missense	probably benign	0.01
R4061:Hnrnpll	UTSW	17	80,340,201 (GRCm39)	missense	probably benign	0.01
R4062:Hnrnpll	UTSW	17	80,340,201 (GRCm39)	missense	probably benign	0.01
R4064:Hnrnpll	UTSW	17	80,340,201 (GRCm39)	missense	probably benign	0.01
R4226:Hnrnpll	UTSW	17	80,357,234 (GRCm39)	critical splice donor site	probably null
R4625:Hnrnpll	UTSW	17	80,358,291 (GRCm39)	nonsense	probably null
R5175:Hnrnpll	UTSW	17	80,341,499 (GRCm39)	missense	possibly damaging	0.83
R5232:Hnrnpll	UTSW	17	80,346,107 (GRCm39)	missense	probably damaging	1.00
R5620:Hnrnpll	UTSW	17	80,346,051 (GRCm39)	missense	probably damaging	1.00
R5978:Hnrnpll	UTSW	17	80,341,620 (GRCm39)	missense	probably damaging	1.00
R6183:Hnrnpll	UTSW	17	80,357,305 (GRCm39)	missense	possibly damaging	0.46
R6374:Hnrnpll	UTSW	17	80,357,303 (GRCm39)	missense	possibly damaging	0.51
R7120:Hnrnpll	UTSW	17	80,341,486 (GRCm39)	missense	probably benign	0.01
R7429:Hnrnpll	UTSW	17	80,357,276 (GRCm39)	missense	probably damaging	1.00
R7430:Hnrnpll	UTSW	17	80,357,276 (GRCm39)	missense	probably damaging	1.00
R7576:Hnrnpll	UTSW	17	80,351,943 (GRCm39)	missense	possibly damaging	0.91
R8001:Hnrnpll	UTSW	17	80,346,152 (GRCm39)	nonsense	probably null
R8010:Hnrnpll	UTSW	17	80,369,385 (GRCm39)	missense	unknown
R8060:Hnrnpll	UTSW	17	80,341,534 (GRCm39)	missense	probably damaging	1.00
R8068:Hnrnpll	UTSW	17	80,358,281 (GRCm39)	missense	possibly damaging	0.80
R8381:Hnrnpll	UTSW	17	80,337,920 (GRCm39)	missense	probably damaging	1.00
R9378:Hnrnpll	UTSW	17	80,369,291 (GRCm39)	missense	unknown
Z1177:Hnrnpll	UTSW	17	80,356,039 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTTTGTTACCGTGGACAGG -3'
(R):5'- TCGCTCTTCCAATAGGAGGC -3'

Sequencing Primer
(F):5'- TTACCGTGGACAGGGGCATG -3'
(R):5'- CTTCCAATAGGAGGCGGAAGTTC -3'

Posted On

2022-07-18